id stringlengths 8 11 | title stringlengths 14 124 | content stringlengths 0 34k | contents stringlengths 20 34k | nordid int64 0 1.32k | rare-disease stringlengths 4 103 |
|---|---|---|---|---|---|
nord_0_0 | Overview of 47, XXY (Klinefelter Syndrome) | SummaryKlinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. Common physical features may include tall stature, red... | Overview of 47, XXY (Klinefelter Syndrome). SummaryKlinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. Common phy... | 0 | 47, XXY (Klinefelter Syndrome) |
nord_0_1 | Symptoms of 47, XXY (Klinefelter Syndrome) | At birth, most neonates with 47, XXY (KS) have no significant dysmorphic or unusual features. Most individuals with 47, XXY (KS) are identified though prenatal diagnosis or when the child does not progress through puberty completely or adequately. Infants and young children with 47, XXY (KS) are sometimes initially ide... | Symptoms of 47, XXY (Klinefelter Syndrome). At birth, most neonates with 47, XXY (KS) have no significant dysmorphic or unusual features. Most individuals with 47, XXY (KS) are identified though prenatal diagnosis or when the child does not progress through puberty completely or adequately. Infants and young children w... | 0 | 47, XXY (Klinefelter Syndrome) |
nord_0_2 | Causes of 47, XXY (Klinefelter Syndrome) | 47, XXY (KS) is not inherited. Males with 47, XXY (KS) have one extra X chromosome because of a nondisjunction error that randomly occurs during the division of the sex chromosomes in the egg or sperm. Some males with 47, XXY (KS) are mosaic, meaning that some cells have an extra X chromosome and other cells do not. Mo... | Causes of 47, XXY (Klinefelter Syndrome). 47, XXY (KS) is not inherited. Males with 47, XXY (KS) have one extra X chromosome because of a nondisjunction error that randomly occurs during the division of the sex chromosomes in the egg or sperm. Some males with 47, XXY (KS) are mosaic, meaning that some cells have an ext... | 0 | 47, XXY (Klinefelter Syndrome) |
nord_0_3 | Affects of 47, XXY (Klinefelter Syndrome) | 47, XXY (KS) is the most common human sex chromosome disorder and occurs in approximately 1 in 500-1,000 males. It is estimated that 3,000 affected boys are born each year in the United States. | Affects of 47, XXY (Klinefelter Syndrome). 47, XXY (KS) is the most common human sex chromosome disorder and occurs in approximately 1 in 500-1,000 males. It is estimated that 3,000 affected boys are born each year in the United States. | 0 | 47, XXY (Klinefelter Syndrome) |
nord_0_4 | Related disorders of 47, XXY (Klinefelter Syndrome) | Kallmann syndrome is a rare inherited disorder that mostly, but not exclusively, affects men. The major characteristics of Kallmann syndrome, in both men and women, are the failure to experience puberty and the complete or partial loss of the sense of smell. Failure to go through puberty reflects a hormonal imbalance t... | Related disorders of 47, XXY (Klinefelter Syndrome). Kallmann syndrome is a rare inherited disorder that mostly, but not exclusively, affects men. The major characteristics of Kallmann syndrome, in both men and women, are the failure to experience puberty and the complete or partial loss of the sense of smell. Failure ... | 0 | 47, XXY (Klinefelter Syndrome) |
nord_0_5 | Diagnosis of 47, XXY (Klinefelter Syndrome) | Males with 47, XXY (KS) are most commonly identified before birth (e.g. through prenatal screenings for chromosomal disorders), at puberty or later in life because of low fertility. 47, XXY (KS) is diagnosed by a chromosome karyotype analysis on a blood sample or by a chromosomal microarray (CMA) test. CMA consists of ... | Diagnosis of 47, XXY (Klinefelter Syndrome). Males with 47, XXY (KS) are most commonly identified before birth (e.g. through prenatal screenings for chromosomal disorders), at puberty or later in life because of low fertility. 47, XXY (KS) is diagnosed by a chromosome karyotype analysis on a blood sample or by a chromo... | 0 | 47, XXY (Klinefelter Syndrome) |
nord_0_6 | Therapies of 47, XXY (Klinefelter Syndrome) | Treatment
One of the hallmarks of Klinefelter syndrome is hypergonadotropic hypogonadism, a condition that results in testosterone deficiency. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. Early hormonal treatment (EHT), three month... | Therapies of 47, XXY (Klinefelter Syndrome). Treatment
One of the hallmarks of Klinefelter syndrome is hypergonadotropic hypogonadism, a condition that results in testosterone deficiency. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel... | 0 | 47, XXY (Klinefelter Syndrome) |
nord_1_0 | Overview of 48, XXYY Syndrome | 48, XXYY is a genetic disorder that occurs in males and is characterized by additional sex chromosomes compared to the typical male karyotype of 46, XY. 48, XXYY syndrome has previously been described as a variant of Klinefelter syndrome because affected males have similar physical characteristics (tall stature and sma... | Overview of 48, XXYY Syndrome. 48, XXYY is a genetic disorder that occurs in males and is characterized by additional sex chromosomes compared to the typical male karyotype of 46, XY. 48, XXYY syndrome has previously been described as a variant of Klinefelter syndrome because affected males have similar physical charac... | 1 | 48, XXYY Syndrome |
nord_1_1 | Symptoms of 48, XXYY Syndrome | In infancy and early childhood, delayed milestones in speech and motor skills are common, as are medical features including low muscle tone (hypotonia), feeding disorders, delayed appearance of teeth, crossed eyes (strabismus) and a twisted neck (torticollis) with flattening on one side of the head. Other physical feat... | Symptoms of 48, XXYY Syndrome. In infancy and early childhood, delayed milestones in speech and motor skills are common, as are medical features including low muscle tone (hypotonia), feeding disorders, delayed appearance of teeth, crossed eyes (strabismus) and a twisted neck (torticollis) with flattening on one side o... | 1 | 48, XXYY Syndrome |
nord_1_2 | Causes of 48, XXYY Syndrome | 48, XXYY syndrome is not inherited, Males with 48, XXYY have an extra X and Y chromosome because of a nondisjunction error that randomly occurs during the division of the sex chromosomes in the egg or sperm cells. There are no commonly known factors predisposing to the specific occurrence of these nondisjunction events... | Causes of 48, XXYY Syndrome. 48, XXYY syndrome is not inherited, Males with 48, XXYY have an extra X and Y chromosome because of a nondisjunction error that randomly occurs during the division of the sex chromosomes in the egg or sperm cells. There are no commonly known factors predisposing to the specific occurrence o... | 1 | 48, XXYY Syndrome |
nord_1_3 | Affects of 48, XXYY Syndrome | There is an estimated incidence of 48, XXYY in 1/18,000 to 1/50,000 male births. | Affects of 48, XXYY Syndrome. There is an estimated incidence of 48, XXYY in 1/18,000 to 1/50,000 male births. | 1 | 48, XXYY Syndrome |
nord_1_4 | Related disorders of 48, XXYY Syndrome | The hypergonadotropic hypogonadism present in 48, XXYY can be seen in other male sex chromosome aneuploidies including Klinefelter (47, XXY) syndrome, 48, XXXY syndrome and 49, XXXXY syndrome as well as 45, X/46, XY mosaicism and 46, XX sex reversal. Other genetic conditions that may have overlap with some of the behav... | Related disorders of 48, XXYY Syndrome. The hypergonadotropic hypogonadism present in 48, XXYY can be seen in other male sex chromosome aneuploidies including Klinefelter (47, XXY) syndrome, 48, XXXY syndrome and 49, XXXXY syndrome as well as 45, X/46, XY mosaicism and 46, XX sex reversal. Other genetic conditions that... | 1 | 48, XXYY Syndrome |
nord_1_5 | Diagnosis of 48, XXYY Syndrome | 48, XXYY is usually identified by a standard karyotype or chromosomal microarray (CMA) performed on peripheral blood, amniotic fluid or buccal swab. Fluorescence In Situ Hybridization (FISH) is another approach to investigate the presence of extra copies of chromosomes X and Y on a larger sample of cells. Prenatal diag... | Diagnosis of 48, XXYY Syndrome. 48, XXYY is usually identified by a standard karyotype or chromosomal microarray (CMA) performed on peripheral blood, amniotic fluid or buccal swab. Fluorescence In Situ Hybridization (FISH) is another approach to investigate the presence of extra copies of chromosomes X and Y on a large... | 1 | 48, XXYY Syndrome |
nord_1_6 | Therapies of 48, XXYY Syndrome | Treatment Comprehensive interdisciplinary care is important to evaluate and manage developmental, medical, and psychological conditions that may be associated with 48, XXYY syndrome. At diagnosis, a thorough physical exam, renal ultrasound and echocardiography should be performed to evaluate for congenital d... | Therapies of 48, XXYY Syndrome. Treatment Comprehensive interdisciplinary care is important to evaluate and manage developmental, medical, and psychological conditions that may be associated with 48, XXYY syndrome. At diagnosis, a thorough physical exam, renal ultrasound and echocardiography should be perfor... | 1 | 48, XXYY Syndrome |
nord_2_0 | Overview of Aarskog Syndrome | Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. Additionally, some types of cognitive disorders may occasionally be present. Up to now, the FGD1 gene on the X chromosome is the only gene known to be associated with Aarskog syndrome. | Overview of Aarskog Syndrome. Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. Additionally, some types of cognitive disorders may occasionally be present. Up to now, the FGD1 gene on the X chromosome is the only gene known to be associated... | 2 | Aarskog Syndrome |
nord_2_1 | Symptoms of Aarskog Syndrome | Aarskog syndrome primarily affects males. Affected boys exhibit a characteristic set of facial, skeletal, and genital abnormalities. Clinical signs may vary from person to person (clinical heterogeneity), even within families. Males with Aarskog syndrome often have a rounded face with a broad forehead. Additional chara... | Symptoms of Aarskog Syndrome. Aarskog syndrome primarily affects males. Affected boys exhibit a characteristic set of facial, skeletal, and genital abnormalities. Clinical signs may vary from person to person (clinical heterogeneity), even within families. Males with Aarskog syndrome often have a rounded face with a br... | 2 | Aarskog Syndrome |
nord_2_2 | Causes of Aarskog Syndrome | Although Aarskog syndrome is a clinically and genetically heterogeneous condition, the best characterized form of the disorder is inherited as an X-linked trait and caused by changes (mutations) in the FGD1 gene. Aarskog syndrome primarily affects males. However, females who carry a single copy of a FGD1 gene mutation ... | Causes of Aarskog Syndrome. Although Aarskog syndrome is a clinically and genetically heterogeneous condition, the best characterized form of the disorder is inherited as an X-linked trait and caused by changes (mutations) in the FGD1 gene. Aarskog syndrome primarily affects males. However, females who carry a single c... | 2 | Aarskog Syndrome |
nord_2_3 | Affects of Aarskog Syndrome | Approximately 60 reports of Aarskog syndrome confirmed by identification of a FGD1 gene mutation have been published worldwide. However, it is possible that some mildly affected children may be unrecognized, making it difficult to determine the true frequency of this condition in the general population. An estimated po... | Affects of Aarskog Syndrome. Approximately 60 reports of Aarskog syndrome confirmed by identification of a FGD1 gene mutation have been published worldwide. However, it is possible that some mildly affected children may be unrecognized, making it difficult to determine the true frequency of this condition in the genera... | 2 | Aarskog Syndrome |
nord_2_4 | Related disorders of Aarskog Syndrome | Symptoms of the following disorders can be similar to those of Aarskog syndrome. Comparisons may be useful for a differential diagnosis:Noonan syndrome is a relatively common genetic disorder characterized by short stature, dysmorphic facial features and congenital heart disease. The disorder is characterized by a wide... | Related disorders of Aarskog Syndrome. Symptoms of the following disorders can be similar to those of Aarskog syndrome. Comparisons may be useful for a differential diagnosis:Noonan syndrome is a relatively common genetic disorder characterized by short stature, dysmorphic facial features and congenital heart disease. ... | 2 | Aarskog Syndrome |
nord_2_5 | Diagnosis of Aarskog Syndrome | A diagnosis of Aarskog syndrome may be considered based upon a thorough clinical evaluation, a detailed patient and family history, and the identification of characteristic findings. Molecular genetic testing for FGD1 gene mutations is available to confirm the diagnosis. If a FGD1 gene mutation is not identified, molec... | Diagnosis of Aarskog Syndrome. A diagnosis of Aarskog syndrome may be considered based upon a thorough clinical evaluation, a detailed patient and family history, and the identification of characteristic findings. Molecular genetic testing for FGD1 gene mutations is available to confirm the diagnosis. If a FGD1 gene mu... | 2 | Aarskog Syndrome |
nord_2_6 | Therapies of Aarskog Syndrome | Treatment
The treatment of Aarskog syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, cardiologists, dental specialists, speech pathologists, specialists who asses and treat hearing prob... | Therapies of Aarskog Syndrome. Treatment
The treatment of Aarskog syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, cardiologists, dental specialists, speech pathologists, specialists w... | 2 | Aarskog Syndrome |
nord_3_0 | Overview of Abetalipoproteinemia | SummaryAbetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. Inability to absorb fat results in deficiencies of lipids and various essential vitamins. Affected individuals experience progressive neurological deterioration, muscle weakness, difficulty ... | Overview of Abetalipoproteinemia. SummaryAbetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. Inability to absorb fat results in deficiencies of lipids and various essential vitamins. Affected individuals experience progressive neurological deteriora... | 3 | Abetalipoproteinemia |
nord_3_1 | Symptoms of Abetalipoproteinemia | Individuals with abetalipoproteinemia may experience a wide variety of symptoms affecting various parts of the body including the gastrointestinal tract, neurological system, eyes and blood.Affected infants often present with symptoms relating to gastrointestinal disease, which occur secondary to poor fat absorption. S... | Symptoms of Abetalipoproteinemia. Individuals with abetalipoproteinemia may experience a wide variety of symptoms affecting various parts of the body including the gastrointestinal tract, neurological system, eyes and blood.Affected infants often present with symptoms relating to gastrointestinal disease, which occur s... | 3 | Abetalipoproteinemia |
nord_3_2 | Causes of Abetalipoproteinemia | Abetalipoproteinemia is caused by changes (mutations or variants) in the MTTP gene and is inherited as an autosomal recessive genetic condition. Genetic diseases are determined by two alleles, one received from the father and one from the mother. An allele refers to one of two or more alternate forms of a particular ge... | Causes of Abetalipoproteinemia. Abetalipoproteinemia is caused by changes (mutations or variants) in the MTTP gene and is inherited as an autosomal recessive genetic condition. Genetic diseases are determined by two alleles, one received from the father and one from the mother. An allele refers to one of two or more al... | 3 | Abetalipoproteinemia |
nord_3_3 | Affects of Abetalipoproteinemia | The exact prevalence and incidence of abetalipoproteinemia is unknown, but it is estimated to affect less than 1 in 1,000,000 people in the general population. Abetalipoproteinemia affects both males and females. There are no known racial or ethnic preferences for the disorder. Abetalipoproteinemia is more prevalent in... | Affects of Abetalipoproteinemia. The exact prevalence and incidence of abetalipoproteinemia is unknown, but it is estimated to affect less than 1 in 1,000,000 people in the general population. Abetalipoproteinemia affects both males and females. There are no known racial or ethnic preferences for the disorder. Abetalip... | 3 | Abetalipoproteinemia |
nord_3_4 | Related disorders of Abetalipoproteinemia | Symptoms of the following disorders can be similar to those of abetalipoproteinemia. Comparisons may be useful for a differential diagnosis.Familial hypobetalipoproteinemia due to secretion defect 2 (FHBL-SD2) is a rare genetic disorder that is highly variable in its expression and is due to variants in the APOB gene. ... | Related disorders of Abetalipoproteinemia. Symptoms of the following disorders can be similar to those of abetalipoproteinemia. Comparisons may be useful for a differential diagnosis.Familial hypobetalipoproteinemia due to secretion defect 2 (FHBL-SD2) is a rare genetic disorder that is highly variable in its expressio... | 3 | Abetalipoproteinemia |
nord_3_5 | Diagnosis of Abetalipoproteinemia | A diagnosis of abetalipoproteinemia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including tests to measure lipids (triglyceride and cholesterol) and apoB-containing lipoproteins in the plasma, determine the form a... | Diagnosis of Abetalipoproteinemia. A diagnosis of abetalipoproteinemia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including tests to measure lipids (triglyceride and cholesterol) and apoB-containing lipoproteins ... | 3 | Abetalipoproteinemia |
nord_3_6 | Therapies of Abetalipoproteinemia | Treatment
The treatment of abetalipoproteinemia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Neurologists, liver specialists (hepatologists), eye specialists (ophthalmologists), specialists in the study of fats (li... | Therapies of Abetalipoproteinemia. Treatment
The treatment of abetalipoproteinemia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Neurologists, liver specialists (hepatologists), eye specialists (ophthalmologists), s... | 3 | Abetalipoproteinemia |
nord_4_0 | Overview of Ablepharon-Macrostomia Syndrome | SummaryAblepharon-macrostomia syndrome (AMS) is a rare genetic disorder characterized by absent or underdeveloped eyelids (ablepharon or microblepharon) and a wide mouth (macrostomia). Characteristics mainly involve the face and skin and rarely involve the internal organs (viscera). Common signs and symptoms in additio... | Overview of Ablepharon-Macrostomia Syndrome. SummaryAblepharon-macrostomia syndrome (AMS) is a rare genetic disorder characterized by absent or underdeveloped eyelids (ablepharon or microblepharon) and a wide mouth (macrostomia). Characteristics mainly involve the face and skin and rarely involve the internal organs (v... | 4 | Ablepharon-Macrostomia Syndrome |
nord_4_1 | Symptoms of Ablepharon-Macrostomia Syndrome | AMS is apparent at birth from features of the head and facial (craniofacial) region. The absence of, or underdevelopment of eyelids and a wide mouth are cardinal features. The abnormalities around the eyes, poor eyelid development and absent eyebrows and eyelashes cause the upper and lower lids to turn outwards (ectrop... | Symptoms of Ablepharon-Macrostomia Syndrome. AMS is apparent at birth from features of the head and facial (craniofacial) region. The absence of, or underdevelopment of eyelids and a wide mouth are cardinal features. The abnormalities around the eyes, poor eyelid development and absent eyebrows and eyelashes cause the ... | 4 | Ablepharon-Macrostomia Syndrome |
nord_4_2 | Causes of Ablepharon-Macrostomia Syndrome | AMS is caused by changes (mutations) in the gene called TWIST2. The mutation has often occurred spontaneously in the affected individual (so not inherited from one of the parents) but inheritance from one of the parents in an autosomal dominant pattern has been reported. Dominant genetic disorders occur when only a sin... | Causes of Ablepharon-Macrostomia Syndrome. AMS is caused by changes (mutations) in the gene called TWIST2. The mutation has often occurred spontaneously in the affected individual (so not inherited from one of the parents) but inheritance from one of the parents in an autosomal dominant pattern has been reported. Domin... | 4 | Ablepharon-Macrostomia Syndrome |
nord_4_3 | Affects of Ablepharon-Macrostomia Syndrome | Between 1977 and 2020, there have been 16 documented cases of AMS in the literature and a worldwide prevalence of less than <1/1,000,000. No apparent sex or ethnic disparity exists, and males and females present with similar signs and symptoms.
| Affects of Ablepharon-Macrostomia Syndrome. Between 1977 and 2020, there have been 16 documented cases of AMS in the literature and a worldwide prevalence of less than <1/1,000,000. No apparent sex or ethnic disparity exists, and males and females present with similar signs and symptoms.
| 4 | Ablepharon-Macrostomia Syndrome |
nord_4_4 | Related disorders of Ablepharon-Macrostomia Syndrome | Barber-Say syndrome (BSS) and Setleis syndrome (also known as focal facial dermal dysplasia 3) fall within the spectrum of disorders resulting from TWIST2 mutations. Key features that differentiate BSS from AMS are presence of excessive hair (hypertrichosis), less marked eye findings, narrow ear canals and relatively n... | Related disorders of Ablepharon-Macrostomia Syndrome. Barber-Say syndrome (BSS) and Setleis syndrome (also known as focal facial dermal dysplasia 3) fall within the spectrum of disorders resulting from TWIST2 mutations. Key features that differentiate BSS from AMS are presence of excessive hair (hypertrichosis), less m... | 4 | Ablepharon-Macrostomia Syndrome |
nord_4_5 | Diagnosis of Ablepharon-Macrostomia Syndrome | A diagnosis of AMS may be suspected at birth based upon a thorough clinical evaluation, a detailed patient and family history and identification of characteristic physical findings; typically, a reliable diagnosis is possible on clinical grounds only. Differentiation from BSS and Setleis syndrome may sometimes be diffi... | Diagnosis of Ablepharon-Macrostomia Syndrome. A diagnosis of AMS may be suspected at birth based upon a thorough clinical evaluation, a detailed patient and family history and identification of characteristic physical findings; typically, a reliable diagnosis is possible on clinical grounds only. Differentiation from B... | 4 | Ablepharon-Macrostomia Syndrome |
nord_4_6 | Therapies of Ablepharon-Macrostomia Syndrome | Treatment
The currently accepted treatment is corrective and reconstructive surgery aimed at preserving vision and reducing visual complications such as corneal clouding (opacification) during the neonatal period. Providing supportive therapy such as lubricant eye drops early on may improve symptoms of eye dryness. Add... | Therapies of Ablepharon-Macrostomia Syndrome. Treatment
The currently accepted treatment is corrective and reconstructive surgery aimed at preserving vision and reducing visual complications such as corneal clouding (opacification) during the neonatal period. Providing supportive therapy such as lubricant eye drops ear... | 4 | Ablepharon-Macrostomia Syndrome |
nord_5_0 | Overview of Acanthocheilonemiasis | Acanthocheilonemiasis is a rare tropical infectious disease caused by a parasite known as Acanthocheilonema perstans, which belongs to a group of parasitic diseases known as filarial diseases (nematode). This parasite is found, for the most part, in Africa. Symptoms of infection may include red, itchy skin (pruritis), ... | Overview of Acanthocheilonemiasis. Acanthocheilonemiasis is a rare tropical infectious disease caused by a parasite known as Acanthocheilonema perstans, which belongs to a group of parasitic diseases known as filarial diseases (nematode). This parasite is found, for the most part, in Africa. Symptoms of infection may i... | 5 | Acanthocheilonemiasis |
nord_5_1 | Symptoms of Acanthocheilonemiasis | Initially people with Acanthocheilonemiasis may have no symptoms. Symptoms occur more frequently in people who visit the areas where this parasite is common (endemic), than in people who are native to that area. One common laboratory finding, in people who have recently returned from infected areas, is abnormally hig... | Symptoms of Acanthocheilonemiasis. Initially people with Acanthocheilonemiasis may have no symptoms. Symptoms occur more frequently in people who visit the areas where this parasite is common (endemic), than in people who are native to that area. One common laboratory finding, in people who have recently returned fro... | 5 | Acanthocheilonemiasis |
nord_5_2 | Causes of Acanthocheilonemiasis | Acanthocheilonemiasis is a rare infectious disease caused by long “thread-like” worms, Acanthocheilonema perstans, also known as Dipetalonema perstans. The disease is transmitted by a small black insect (midge), called A. Culicoides. | Causes of Acanthocheilonemiasis. Acanthocheilonemiasis is a rare infectious disease caused by long “thread-like” worms, Acanthocheilonema perstans, also known as Dipetalonema perstans. The disease is transmitted by a small black insect (midge), called A. Culicoides. | 5 | Acanthocheilonemiasis |
nord_5_3 | Affects of Acanthocheilonemiasis | Acanthocheilonema perstans, the parasite that causes Acanthocheilonemiasis is common in central Africa and in some areas of South America. This disorder affects males and females in equal numbers. | Affects of Acanthocheilonemiasis. Acanthocheilonema perstans, the parasite that causes Acanthocheilonemiasis is common in central Africa and in some areas of South America. This disorder affects males and females in equal numbers. | 5 | Acanthocheilonemiasis |
nord_5_4 | Related disorders of Acanthocheilonemiasis | Symptoms of the following disorders can be similar to those of Acanthocheilonemiasis. Comparisons may be useful for a differential diagnosis:Filariasis is a group of rare infectious diseases caused by parasitic worms. These disorders are characterized by abnormal changes with the lymph glands (lymphadenopathy) and ch... | Related disorders of Acanthocheilonemiasis. Symptoms of the following disorders can be similar to those of Acanthocheilonemiasis. Comparisons may be useful for a differential diagnosis:Filariasis is a group of rare infectious diseases caused by parasitic worms. These disorders are characterized by abnormal changes wi... | 5 | Acanthocheilonemiasis |
nord_5_5 | Diagnosis of Acanthocheilonemiasis | Diagnosis of Acanthocheilonemiasis. | 5 | Acanthocheilonemiasis | |
nord_5_6 | Therapies of Acanthocheilonemiasis | Acanthocheilonemiasis is treated by means of the administration of antifilarial drugs, some of which are newer than others. Ivermectin or diethyl-carbamazine (DEC) are frequently prescribed. Occasionally, surgery may be required to remove large adult worms. Mild cases of acanthocheilonemiasis do not require treatment. | Therapies of Acanthocheilonemiasis. Acanthocheilonemiasis is treated by means of the administration of antifilarial drugs, some of which are newer than others. Ivermectin or diethyl-carbamazine (DEC) are frequently prescribed. Occasionally, surgery may be required to remove large adult worms. Mild cases of acanthocheil... | 5 | Acanthocheilonemiasis |
nord_6_0 | Overview of Aceruloplasminemia | Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may also occur. Symptoms usually be... | Overview of Aceruloplasminemia. Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may... | 6 | Aceruloplasminemia |
nord_6_1 | Symptoms of Aceruloplasminemia | The symptoms and severity of aceruloplasminemia vary from one person to another even among members of the same family. The age of onset varies as well, ranging from anywhere between the 20s and 60s. The three main findings associated with aceruloplasminemia are retinal degeneration, neurological symptoms and diabetes m... | Symptoms of Aceruloplasminemia. The symptoms and severity of aceruloplasminemia vary from one person to another even among members of the same family. The age of onset varies as well, ranging from anywhere between the 20s and 60s. The three main findings associated with aceruloplasminemia are retinal degeneration, neur... | 6 | Aceruloplasminemia |
nord_6_2 | Causes of Aceruloplasminemia | Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene and is inherited in an autosomal recessive pattern. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.Recessive genetic disorders occur when an i... | Causes of Aceruloplasminemia. Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene and is inherited in an autosomal recessive pattern. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.Recessive gen... | 6 | Aceruloplasminemia |
nord_6_3 | Affects of Aceruloplasminemia | Aceruloplasminemia is an extremely rare disorder that affects males and females in equal numbers. The exact incidence of aceruloplasminemia is unknown. It may be more prevalent in Japan, where it is estimated to affect 1 individual per 2,000,000 in the general population. Because many cases of aceruloplasminemia go und... | Affects of Aceruloplasminemia. Aceruloplasminemia is an extremely rare disorder that affects males and females in equal numbers. The exact incidence of aceruloplasminemia is unknown. It may be more prevalent in Japan, where it is estimated to affect 1 individual per 2,000,000 in the general population. Because many cas... | 6 | Aceruloplasminemia |
nord_6_4 | Related disorders of Aceruloplasminemia | Symptoms of the following disorders can be similar to those of aceruloplasminemia. Comparisons may be useful for a differential diagnosis.Neurodegeneration with brain iron accumulation (NBIA) is a general term for a rare group of genetic disorders characterized by the accumulation of iron in the brain. These disorders ... | Related disorders of Aceruloplasminemia. Symptoms of the following disorders can be similar to those of aceruloplasminemia. Comparisons may be useful for a differential diagnosis.Neurodegeneration with brain iron accumulation (NBIA) is a general term for a rare group of genetic disorders characterized by the accumulati... | 6 | Aceruloplasminemia |
nord_6_5 | Diagnosis of Aceruloplasminemia | A diagnosis of aceruloplasminemia is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Blood tests can reveal certain findings associated with aceruloplasminemia including absent blood ceruloplasmin and low concentra... | Diagnosis of Aceruloplasminemia. A diagnosis of aceruloplasminemia is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Blood tests can reveal certain findings associated with aceruloplasminemia including absent bloo... | 6 | Aceruloplasminemia |
nord_6_6 | Therapies of Aceruloplasminemia | Treatment
The treatment of aceruloplasminemia is directed toward the specific symptoms that are apparent in each individual. Individuals with aceruloplasminemia may be treated with a drug called desferrioxamine, an iron chelator. Iron chelators are drugs that bind to the excess iron in the body allowing it to be dissol... | Therapies of Aceruloplasminemia. Treatment
The treatment of aceruloplasminemia is directed toward the specific symptoms that are apparent in each individual. Individuals with aceruloplasminemia may be treated with a drug called desferrioxamine, an iron chelator. Iron chelators are drugs that bind to the excess iron in ... | 6 | Aceruloplasminemia |
nord_7_0 | Overview of Achalasia | Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by impaired ability to push food down toward the stomach (peristalsis), failure of the ring-shaped muscle at the bottom of the esophagus, the lower esophageal sphincter (LES), to relax. It is th... | Overview of Achalasia. Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by impaired ability to push food down toward the stomach (peristalsis), failure of the ring-shaped muscle at the bottom of the esophagus, the lower esophageal sphincter (L... | 7 | Achalasia |
nord_7_1 | Symptoms of Achalasia | The symptoms of achalasia typically appear gradually. Most people with this disorder experience an impairment in the ability to swallow (dysphagia) as a major and early symptom. There may also be mild chest pain that comes and goes. Some affected individuals experience pain that is very intense.Retention of saliva and ... | Symptoms of Achalasia. The symptoms of achalasia typically appear gradually. Most people with this disorder experience an impairment in the ability to swallow (dysphagia) as a major and early symptom. There may also be mild chest pain that comes and goes. Some affected individuals experience pain that is very intense.R... | 7 | Achalasia |
nord_7_2 | Causes of Achalasia | The exact cause of achalasia is not known. Some clinical researchers suspect that the condition may be caused by the degeneration of a group of nerves located in the chest (Auerbach’s plexus). It is believed that there may be a rare, inherited form of achalasia, but this is not yet well understood at this time. | Causes of Achalasia. The exact cause of achalasia is not known. Some clinical researchers suspect that the condition may be caused by the degeneration of a group of nerves located in the chest (Auerbach’s plexus). It is believed that there may be a rare, inherited form of achalasia, but this is not yet well understood ... | 7 | Achalasia |
nord_7_3 | Affects of Achalasia | Achalasia is a rare disorder that typically affects adults between the ages of 25 and 60 years. However, this disorder may occur at any age, including during childhood. Achalasia affects males and females in equal numbers except in cases that appear to reflect an inherited form. In those cases, it appears that males ar... | Affects of Achalasia. Achalasia is a rare disorder that typically affects adults between the ages of 25 and 60 years. However, this disorder may occur at any age, including during childhood. Achalasia affects males and females in equal numbers except in cases that appear to reflect an inherited form. In those cases, it... | 7 | Achalasia |
nord_7_4 | Related disorders of Achalasia | Symptoms of the following disorders can be similar to those of achalasia. Comparisons may be useful for a differential diagnosis:Esophageal cancer
The symptoms of esophageal cancer resemble those associated with achalasia. Esophageal cancer may begin at almost any point in the tube. Small cancers may be asymptomatic or... | Related disorders of Achalasia. Symptoms of the following disorders can be similar to those of achalasia. Comparisons may be useful for a differential diagnosis:Esophageal cancer
The symptoms of esophageal cancer resemble those associated with achalasia. Esophageal cancer may begin at almost any point in the tube. Smal... | 7 | Achalasia |
nord_7_5 | Diagnosis of Achalasia | X-ray examination (radiology) is frequently useful in the diagnosis of achalasia. Radiological examination, especially with the use of barium, may show enlargement (dilation) of the esophagus and the retention of food and secretions within the esophagus. Devices that measure fluid pressure (manometers) within the esoph... | Diagnosis of Achalasia. X-ray examination (radiology) is frequently useful in the diagnosis of achalasia. Radiological examination, especially with the use of barium, may show enlargement (dilation) of the esophagus and the retention of food and secretions within the esophagus. Devices that measure fluid pressure (mano... | 7 | Achalasia |
nord_7_6 | Therapies of Achalasia | TreatmentThe treatment of achalasia is aimed at removing obstructions caused by the failure of the lower esophageal sphincter muscle to relax. This may be done with the administration of drugs, expanding the cross-section (manual dilation) of the sphincter muscle, or through surgery.The drug isosorbide, (a long-acting ... | Therapies of Achalasia. TreatmentThe treatment of achalasia is aimed at removing obstructions caused by the failure of the lower esophageal sphincter muscle to relax. This may be done with the administration of drugs, expanding the cross-section (manual dilation) of the sphincter muscle, or through surgery.The drug iso... | 7 | Achalasia |
nord_8_0 | Overview of Achard Thiers Syndrome | Achard-Thiers syndrome is a rare disorder that occurs primarily in postmenopausal women and is characterized by type 2 (insulin-resistant) diabetes mellitus and signs of androgen excess. The exact cause of this syndrome is unknown. | Overview of Achard Thiers Syndrome. Achard-Thiers syndrome is a rare disorder that occurs primarily in postmenopausal women and is characterized by type 2 (insulin-resistant) diabetes mellitus and signs of androgen excess. The exact cause of this syndrome is unknown. | 8 | Achard Thiers Syndrome |
nord_8_1 | Symptoms of Achard Thiers Syndrome | The original description and usual emphasis in this syndrome is on the affected individual as a bearded woman with diabetes mellitus. In older women, the first clinical symptoms are often those associated with classic diabetes and may include abnormally high blood glucose due to the body's inability to utilize insulin... | Symptoms of Achard Thiers Syndrome. The original description and usual emphasis in this syndrome is on the affected individual as a bearded woman with diabetes mellitus. In older women, the first clinical symptoms are often those associated with classic diabetes and may include abnormally high blood glucose due to the... | 8 | Achard Thiers Syndrome |
nord_8_2 | Causes of Achard Thiers Syndrome | These syndromes appear to be transmitted within families. Approximately 50% of the sisters of women with PCOS have some form of the syndrome. The exact mechanism of genetic transmission is unknown. | Causes of Achard Thiers Syndrome. These syndromes appear to be transmitted within families. Approximately 50% of the sisters of women with PCOS have some form of the syndrome. The exact mechanism of genetic transmission is unknown. | 8 | Achard Thiers Syndrome |
nord_8_3 | Affects of Achard Thiers Syndrome | Achard-Thiers Syndrome is a rare disorder that affects females after menopause. The incidence of this disorder in the general population is not known. | Affects of Achard Thiers Syndrome. Achard-Thiers Syndrome is a rare disorder that affects females after menopause. The incidence of this disorder in the general population is not known. | 8 | Achard Thiers Syndrome |
nord_8_4 | Related disorders of Achard Thiers Syndrome | Symptoms of the following disorders can be similar to those of Achard-Thiers. Comparisons may be useful for a differential diagnosis:Acquired adrenogenital syndrome is a rare endocrine disorder that occurs because of a tumor in the adrenal glands which causes the overproduction of androgens. In an adult female the sym... | Related disorders of Achard Thiers Syndrome. Symptoms of the following disorders can be similar to those of Achard-Thiers. Comparisons may be useful for a differential diagnosis:Acquired adrenogenital syndrome is a rare endocrine disorder that occurs because of a tumor in the adrenal glands which causes the overproduct... | 8 | Achard Thiers Syndrome |
nord_8_5 | Diagnosis of Achard Thiers Syndrome | The diagnosis of Achard-Thiers syndrome should be suspected based on the clinical findings. Because affected women are hyperinsulinemic, a two-hour oral glucose tolerance test shows abnormally elevated levels of glucose in the blood. | Diagnosis of Achard Thiers Syndrome. The diagnosis of Achard-Thiers syndrome should be suspected based on the clinical findings. Because affected women are hyperinsulinemic, a two-hour oral glucose tolerance test shows abnormally elevated levels of glucose in the blood. | 8 | Achard Thiers Syndrome |
nord_8_6 | Therapies of Achard Thiers Syndrome | TreatmentDiabetes may be managed by diet and/or insulin or other medications, as required. Cosmetic measures (for example, waxing and electrolysis) can be used to facilitate hair removal. For younger women with PCOS, treatment with an oral contraceptive is the most common therapy, whereas for postmenopausal women with ... | Therapies of Achard Thiers Syndrome. TreatmentDiabetes may be managed by diet and/or insulin or other medications, as required. Cosmetic measures (for example, waxing and electrolysis) can be used to facilitate hair removal. For younger women with PCOS, treatment with an oral contraceptive is the most common therapy, w... | 8 | Achard Thiers Syndrome |
nord_9_0 | Overview of Achondrogenesis | SummaryAchondrogenesis is a group of rare skeletal dysplasias characterized by extreme shortening of the arms and legs in relation to the trunk, abnormal development of ribs, vertebra and other skeletal abnormalities. The health problems associated with these conditions are life-threatening and most affected infants ar... | Overview of Achondrogenesis. SummaryAchondrogenesis is a group of rare skeletal dysplasias characterized by extreme shortening of the arms and legs in relation to the trunk, abnormal development of ribs, vertebra and other skeletal abnormalities. The health problems associated with these conditions are life-threatening... | 9 | Achondrogenesis |
nord_9_1 | Symptoms of Achondrogenesis | Achondrogenesis is characterized by premature birth, abnormal accumulation of fluid in the body (hydrops fetalis), and a head that may be abnormal in shape and less ossified. The head may look disproportionately large, because the body is small. In addition, affected individuals have extremely short limbs and ribs, sho... | Symptoms of Achondrogenesis. Achondrogenesis is characterized by premature birth, abnormal accumulation of fluid in the body (hydrops fetalis), and a head that may be abnormal in shape and less ossified. The head may look disproportionately large, because the body is small. In addition, affected individuals have extrem... | 9 | Achondrogenesis |
nord_9_2 | Causes of Achondrogenesis | Each type of achondrogenesis is caused by a mutation in a specific gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular p... | Causes of Achondrogenesis. Each type of achondrogenesis is caused by a mutation in a specific gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the fu... | 9 | Achondrogenesis |
nord_9_3 | Affects of Achondrogenesis | Achondrogenesis affect males and females in equal numbers. Achondrogenesis type IA and type IB are very rare disorders and prevalence for them is unknown. Achondrogenesis type II occurs in approximately 1/40,000-1/60,000 newborns. | Affects of Achondrogenesis. Achondrogenesis affect males and females in equal numbers. Achondrogenesis type IA and type IB are very rare disorders and prevalence for them is unknown. Achondrogenesis type II occurs in approximately 1/40,000-1/60,000 newborns. | 9 | Achondrogenesis |
nord_9_4 | Related disorders of Achondrogenesis | Skeletal dysplasias (osteochondrodysplasias) are a general term for a group of disorders characterized by abnormal growth or development or cartilage and bone. Some forms cause life-threatening complications shortly after birth, while others are only may or may not cause life-threatening complications. Some forms do no... | Related disorders of Achondrogenesis. Skeletal dysplasias (osteochondrodysplasias) are a general term for a group of disorders characterized by abnormal growth or development or cartilage and bone. Some forms cause life-threatening complications shortly after birth, while others are only may or may not cause life-threa... | 9 | Achondrogenesis |
nord_9_5 | Diagnosis of Achondrogenesis | Achondrogenesis is diagnosed by physical features, X-ray (radiographic) findings and examination of tissue samples under a microscope (histology). Molecular genetic tests for mutations in the SLC26A2 gene can be used to confirm the diagnosis of achondrogenesis type 1B.Prenatal diagnosis of achondrogenesis by ultrasound... | Diagnosis of Achondrogenesis. Achondrogenesis is diagnosed by physical features, X-ray (radiographic) findings and examination of tissue samples under a microscope (histology). Molecular genetic tests for mutations in the SLC26A2 gene can be used to confirm the diagnosis of achondrogenesis type 1B.Prenatal diagnosis of... | 9 | Achondrogenesis |
nord_9_6 | Therapies of Achondrogenesis | TreatmentTreatment of achondrogenesis is symptomatic and supportive and involves palliative care, in which physicians attempt to reduce or minimize pain, stress and specific symptoms associated with the disorder. Genetic counseling is recommended for families with an affected child. Psychosocial support for the entire ... | Therapies of Achondrogenesis. TreatmentTreatment of achondrogenesis is symptomatic and supportive and involves palliative care, in which physicians attempt to reduce or minimize pain, stress and specific symptoms associated with the disorder. Genetic counseling is recommended for families with an affected child. Psycho... | 9 | Achondrogenesis |
nord_10_0 | Overview of Achondroplasia | SummaryAchondroplasia is the most commonly occurring abnormality of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 live births. This genetic disorder is caused by a change (mutation) in the fibroblast growth factor receptor 3 (FGFR3) gene. Achondroplasia occurs as a result of a spontane... | Overview of Achondroplasia. SummaryAchondroplasia is the most commonly occurring abnormality of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 live births. This genetic disorder is caused by a change (mutation) in the fibroblast growth factor receptor 3 (FGFR3) gene. Achondroplasia occu... | 10 | Achondroplasia |
nord_10_1 | Symptoms of Achondroplasia | General
This rare genetic disorder is characterized by distinctive features: short stature (usually under 4 feet 6 inches); an unusually large head (macrocephaly) with a prominent forehead (frontal bossing) and flat (depressed) nasal bridge; short arms and legs; prominent abdomen and buttocks (due to inward curve of th... | Symptoms of Achondroplasia. General
This rare genetic disorder is characterized by distinctive features: short stature (usually under 4 feet 6 inches); an unusually large head (macrocephaly) with a prominent forehead (frontal bossing) and flat (depressed) nasal bridge; short arms and legs; prominent abdomen and buttock... | 10 | Achondroplasia |
nord_10_2 | Causes of Achondroplasia | Achondroplasia results from specific changes (mutations) of a gene known as fibroblast growth factor receptor 3 (FGFR3). For most patients, there is no apparent family history of the condition. Increased age of the father (advanced paternal age) may be a contributing factor in cases of sporadic achondroplasia.Less com... | Causes of Achondroplasia. Achondroplasia results from specific changes (mutations) of a gene known as fibroblast growth factor receptor 3 (FGFR3). For most patients, there is no apparent family history of the condition. Increased age of the father (advanced paternal age) may be a contributing factor in cases of sporad... | 10 | Achondroplasia |
nord_10_3 | Affects of Achondroplasia | Achondroplasia appears to affect males and females in equal numbers. This disorder begins in the developing fetus and is one of the most common forms of skeletal dysplasia that causes dwarfism. The estimated frequency of achondroplasia has ranged from about one in 15,000 to one in 35,000 births. | Affects of Achondroplasia. Achondroplasia appears to affect males and females in equal numbers. This disorder begins in the developing fetus and is one of the most common forms of skeletal dysplasia that causes dwarfism. The estimated frequency of achondroplasia has ranged from about one in 15,000 to one in 35,000 birt... | 10 | Achondroplasia |
nord_10_4 | Related disorders of Achondroplasia | Symptoms of the following disorders may be similar to those of Achondroplasia. Comparisons may be useful for a differential diagnosis:Hypochrondroplasia is a genetic disorder characterized by small stature and disproportionately short arms, legs, hands, and feet (i.e., short-limbed dwarfism). In those with the disorde... | Related disorders of Achondroplasia. Symptoms of the following disorders may be similar to those of Achondroplasia. Comparisons may be useful for a differential diagnosis:Hypochrondroplasia is a genetic disorder characterized by small stature and disproportionately short arms, legs, hands, and feet (i.e., short-limbed ... | 10 | Achondroplasia |
nord_10_5 | Diagnosis of Achondroplasia | Clinical and radiologic features of achondroplasia are well-characterized. Those with typical findings generally do not need molecular genetic testing to confirm the diagnosis. When clinical features raise suspicion in a newborn, X-ray (radiography) findings can be used to help confirm the diagnosis. However, if there ... | Diagnosis of Achondroplasia. Clinical and radiologic features of achondroplasia are well-characterized. Those with typical findings generally do not need molecular genetic testing to confirm the diagnosis. When clinical features raise suspicion in a newborn, X-ray (radiography) findings can be used to help confirm the ... | 10 | Achondroplasia |
nord_10_6 | Therapies of Achondroplasia | Treatment
Recommendations for managing children with achondroplasia are outlined by the American Academy of Pediatrics Committee on Genetics, which are designed to supplement guidelines for children with average stature.As outlined in Pauli and Legare (2018), the recommendations for the manifestations of achondroplasi... | Therapies of Achondroplasia. Treatment
Recommendations for managing children with achondroplasia are outlined by the American Academy of Pediatrics Committee on Genetics, which are designed to supplement guidelines for children with average stature.As outlined in Pauli and Legare (2018), the recommendations for the ma... | 10 | Achondroplasia |
nord_11_0 | Overview of Acid Sphingomyelinase Deficiency | SummaryAcid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down (metabolize) a fatty substance (lipid) called sphingomyelin. Consequently, sphingomyelin and other substances accumulate in various ti... | Overview of Acid Sphingomyelinase Deficiency. SummaryAcid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down (metabolize) a fatty substance (lipid) called sphingomyelin. Consequently, sphingomyelin... | 11 | Acid Sphingomyelinase Deficiency |
nord_11_1 | Symptoms of Acid Sphingomyelinase Deficiency | Because ASMD is a highly variable disorder, it is important to note that affected individuals will not have all of the symptoms described below and that every individual case is unique. Some children will develop severe, life-threatening complications early in life; others have mild disease that may go undiagnosed well... | Symptoms of Acid Sphingomyelinase Deficiency. Because ASMD is a highly variable disorder, it is important to note that affected individuals will not have all of the symptoms described below and that every individual case is unique. Some children will develop severe, life-threatening complications early in life; others ... | 11 | Acid Sphingomyelinase Deficiency |
nord_11_2 | Causes of Acid Sphingomyelinase Deficiency | Acid sphingomyelinase deficiency is caused by a mutation in the sphingomyelin phophodiesterase-1 (SMPD1) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending ... | Causes of Acid Sphingomyelinase Deficiency. Acid sphingomyelinase deficiency is caused by a mutation in the sphingomyelin phophodiesterase-1 (SMPD1) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may b... | 11 | Acid Sphingomyelinase Deficiency |
nord_11_3 | Affects of Acid Sphingomyelinase Deficiency | ASMD affects males and females in equal numbers. The exact incidence and prevalence of the disorder is unknown, but has been estimated at 1 in 250,000 individuals in the general population. However, because some cases go misdiagnosed or undiagnosed, determining the true frequency of ASMD in the general population is di... | Affects of Acid Sphingomyelinase Deficiency. ASMD affects males and females in equal numbers. The exact incidence and prevalence of the disorder is unknown, but has been estimated at 1 in 250,000 individuals in the general population. However, because some cases go misdiagnosed or undiagnosed, determining the true freq... | 11 | Acid Sphingomyelinase Deficiency |
nord_11_4 | Related disorders of Acid Sphingomyelinase Deficiency | Symptoms of the following disorders can be similar to those of ASMD. Comparisons may be useful for a differential diagnosis.There are several types of metabolic disorders in which there is secondary accumulation of certain substances like fats and carbohydrates including the mucopolysaccharidoses and other lysosomal st... | Related disorders of Acid Sphingomyelinase Deficiency. Symptoms of the following disorders can be similar to those of ASMD. Comparisons may be useful for a differential diagnosis.There are several types of metabolic disorders in which there is secondary accumulation of certain substances like fats and carbohydrates inc... | 11 | Acid Sphingomyelinase Deficiency |
nord_11_5 | Diagnosis of Acid Sphingomyelinase Deficiency | A diagnosis of ASMD is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Clinical Testing and Workup
Individuals suspected of ASMD will be tested to determine whether the activity of the enzyme, ASM, is reduced or absent... | Diagnosis of Acid Sphingomyelinase Deficiency. A diagnosis of ASMD is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Clinical Testing and Workup
Individuals suspected of ASMD will be tested to determine whether the ac... | 11 | Acid Sphingomyelinase Deficiency |
nord_11_6 | Therapies of Acid Sphingomyelinase Deficiency | The treatment of ASMD may require the coordinated efforts of a team of specialists. Pediatricians, neurologists, hepatologists, ophthalmologists, and other healthcare professionals may need to systematically and comprehensively plan a child’s treatment. Psychosocial support for the entire family is essential as well. G... | Therapies of Acid Sphingomyelinase Deficiency. The treatment of ASMD may require the coordinated efforts of a team of specialists. Pediatricians, neurologists, hepatologists, ophthalmologists, and other healthcare professionals may need to systematically and comprehensively plan a child’s treatment. Psychosocial suppor... | 11 | Acid Sphingomyelinase Deficiency |
nord_12_0 | Overview of Acidemia, Methylmalonic | The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). This results in an abnormally high level of acid in the blood (academia) and body tissues. In the acute form, drowsiness, coma, and seizures may occur. Me... | Overview of Acidemia, Methylmalonic. The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). This results in an abnormally high level of acid in the blood (academia) and body tissues. In the acute form, drowsin... | 12 | Acidemia, Methylmalonic |
nord_12_1 | Symptoms of Acidemia, Methylmalonic | The onset of the Methylmalonic Acidemias usually occurs during the first few months of life although onset to late childhoods has been described. Symptoms may include lethargy, failure to thrive, recurrent vomiting, acidosis, dehydration, respiratory distress, diminished muscle tone, developmental retardation, seizur... | Symptoms of Acidemia, Methylmalonic. The onset of the Methylmalonic Acidemias usually occurs during the first few months of life although onset to late childhoods has been described. Symptoms may include lethargy, failure to thrive, recurrent vomiting, acidosis, dehydration, respiratory distress, diminished muscle to... | 12 | Acidemia, Methylmalonic |
nord_12_2 | Causes of Acidemia, Methylmalonic | Researchers at the University of Calgary and McGill University in Canada announced in December 2002 that they had identified genes that underlie two severe forms of methylmalonic academia. This discovery should make possible DNA testing for carriers and prenatal diagnosis, which is important because treatment can be s... | Causes of Acidemia, Methylmalonic. Researchers at the University of Calgary and McGill University in Canada announced in December 2002 that they had identified genes that underlie two severe forms of methylmalonic academia. This discovery should make possible DNA testing for carriers and prenatal diagnosis, which is i... | 12 | Acidemia, Methylmalonic |
nord_12_3 | Affects of Acidemia, Methylmalonic | The Methylmalonic Acidemias occur at a rate of 1 in 50,000 to 1 in 100,000 live births. | Affects of Acidemia, Methylmalonic. The Methylmalonic Acidemias occur at a rate of 1 in 50,000 to 1 in 100,000 live births. | 12 | Acidemia, Methylmalonic |
nord_12_4 | Related disorders of Acidemia, Methylmalonic | Symptoms of the following disorders are similar to those of Methylmalonic Acidemias. Comparisons may be useful for a differential diagnosis.Ketotic Hyperglycinemia is a group of hereditary protein metabolism disorders. In each case, a defective enzyme prevents the breakdown of certain amino acids and lipids. High le... | Related disorders of Acidemia, Methylmalonic. Symptoms of the following disorders are similar to those of Methylmalonic Acidemias. Comparisons may be useful for a differential diagnosis.Ketotic Hyperglycinemia is a group of hereditary protein metabolism disorders. In each case, a defective enzyme prevents the breakdo... | 12 | Acidemia, Methylmalonic |
nord_12_5 | Diagnosis of Acidemia, Methylmalonic | Methylmalonic Acidemias can usually be diagnosed before birth (prenatally) by measuring the concentration of methylmalonic acid in amniotic fluid or activity of the deficient enzyme in fluid or tissue samples obtained from the fetus or uterus during pregnancy (amniocentesis or chorionic villus sampling [CVS]). During a... | Diagnosis of Acidemia, Methylmalonic. Methylmalonic Acidemias can usually be diagnosed before birth (prenatally) by measuring the concentration of methylmalonic acid in amniotic fluid or activity of the deficient enzyme in fluid or tissue samples obtained from the fetus or uterus during pregnancy (amniocentesis or chor... | 12 | Acidemia, Methylmalonic |
nord_12_6 | Therapies of Acidemia, Methylmalonic | TreatmentThe diet of children with Methylmalonic Acidemias must be carefully controlled. Treatment includes a low-protein diet and avoidance of the amino acids isoleucine, valine, threonine and methionine. To assure a balanced diet, certain medical foods must be fed to affected children. Massive doses of vitamin B12 ar... | Therapies of Acidemia, Methylmalonic. TreatmentThe diet of children with Methylmalonic Acidemias must be carefully controlled. Treatment includes a low-protein diet and avoidance of the amino acids isoleucine, valine, threonine and methionine. To assure a balanced diet, certain medical foods must be fed to affected chi... | 12 | Acidemia, Methylmalonic |
nord_13_0 | Overview of Acoustic Neuroma | An acoustic neuroma, also known as a vestibular schwannoma, is a rare benign (non-cancerous) growth that develops on the eighth cranial nerve. This nerve runs from the inner ear to the brain and is responsible for hearing and balance (equilibrium). Although there is no standard or typical pattern of symptom development... | Overview of Acoustic Neuroma. An acoustic neuroma, also known as a vestibular schwannoma, is a rare benign (non-cancerous) growth that develops on the eighth cranial nerve. This nerve runs from the inner ear to the brain and is responsible for hearing and balance (equilibrium). Although there is no standard or typical ... | 13 | Acoustic Neuroma |
nord_13_1 | Symptoms of Acoustic Neuroma | Some individuals, especially those with small tumors, may not have any associated symptoms (asymptomatic). However, even small tumors, depending upon their location, can cause significant symptoms or physical findings.Acoustic neuromas are slow-growing tumors that can eventually cause a variety of symptoms by pressing ... | Symptoms of Acoustic Neuroma. Some individuals, especially those with small tumors, may not have any associated symptoms (asymptomatic). However, even small tumors, depending upon their location, can cause significant symptoms or physical findings.Acoustic neuromas are slow-growing tumors that can eventually cause a va... | 13 | Acoustic Neuroma |
nord_13_2 | Causes of Acoustic Neuroma | The exact cause of an acoustic neuroma is unknown. Most cases seem to arise for no apparent reason (spontaneously). No specific risk factors for the development of these tumors have been identified.A variety of potential risk factors for acoustic neuroma have been studied including prior exposure to radiation to the he... | Causes of Acoustic Neuroma. The exact cause of an acoustic neuroma is unknown. Most cases seem to arise for no apparent reason (spontaneously). No specific risk factors for the development of these tumors have been identified.A variety of potential risk factors for acoustic neuroma have been studied including prior exp... | 13 | Acoustic Neuroma |
nord_13_3 | Affects of Acoustic Neuroma | Acoustic neuromas affect women more often than men. Most cases of acoustic neuroma develop in individuals between the ages of 30 and 60. Although quite rare, they can develop in children. Acoustic neuromas are estimated to affect about 1 in 100,000 people in the general population. Racial differences have been reported... | Affects of Acoustic Neuroma. Acoustic neuromas affect women more often than men. Most cases of acoustic neuroma develop in individuals between the ages of 30 and 60. Although quite rare, they can develop in children. Acoustic neuromas are estimated to affect about 1 in 100,000 people in the general population. Racial d... | 13 | Acoustic Neuroma |
nord_13_4 | Related disorders of Acoustic Neuroma | Symptoms of the following disorders can be similar to those of acoustic neuromas. Comparisons may be useful for a differential diagnosis.Meniere’s disease is a rare disorder affecting the inner ear that is characterized by periodic episodes of rotary vertigo or dizziness; progressive, fluctuating, low-frequency (low-pi... | Related disorders of Acoustic Neuroma. Symptoms of the following disorders can be similar to those of acoustic neuromas. Comparisons may be useful for a differential diagnosis.Meniere’s disease is a rare disorder affecting the inner ear that is characterized by periodic episodes of rotary vertigo or dizziness; progress... | 13 | Acoustic Neuroma |
nord_13_5 | Diagnosis of Acoustic Neuroma | A diagnosis of an acoustic neuroma is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings and a variety of specialized tests. Such tests include hearing exams, x-ray scans such as magnetic resonance imaging (MRI) or computed tomography (CT), a specialize... | Diagnosis of Acoustic Neuroma. A diagnosis of an acoustic neuroma is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings and a variety of specialized tests. Such tests include hearing exams, x-ray scans such as magnetic resonance imaging (MRI) or compute... | 13 | Acoustic Neuroma |
nord_13_6 | Therapies of Acoustic Neuroma | TreatmentThe treatment of an acoustic neuroma may involve observation (if the tumor is small and does not cause symptoms), surgical removal (microsurgery or excision) of the tumor, or the use of radiation to stop the tumor from growing (radiation therapy or radiosurgery).Observation
This option may be preferred in affe... | Therapies of Acoustic Neuroma. TreatmentThe treatment of an acoustic neuroma may involve observation (if the tumor is small and does not cause symptoms), surgical removal (microsurgery or excision) of the tumor, or the use of radiation to stop the tumor from growing (radiation therapy or radiosurgery).Observation
This ... | 13 | Acoustic Neuroma |
nord_14_0 | Overview of Acquired Aplastic Anemia | SummaryAcquired aplastic anemia is a rare, serious blood disorder, due to failure of the bone marrow failure to produce blood cells. Bone marrow is the spongy substance found in the center of the bones of the body, in adults mainly the spine, pelvis, and large bones of the legs. The bone marrow contains hematopoietic s... | Overview of Acquired Aplastic Anemia. SummaryAcquired aplastic anemia is a rare, serious blood disorder, due to failure of the bone marrow failure to produce blood cells. Bone marrow is the spongy substance found in the center of the bones of the body, in adults mainly the spine, pelvis, and large bones of the legs. Th... | 14 | Acquired Aplastic Anemia |
nord_14_1 | Symptoms of Acquired Aplastic Anemia | The symptoms of acquired aplastic anemia occur as a consequence of the bone marrow failing to produce enough blood cells. Specific symptoms vary from case to case. Some individuals may have mild symptoms that remain stable for many years; others may have serious symptoms that can progress to life-threatening complicati... | Symptoms of Acquired Aplastic Anemia. The symptoms of acquired aplastic anemia occur as a consequence of the bone marrow failing to produce enough blood cells. Specific symptoms vary from case to case. Some individuals may have mild symptoms that remain stable for many years; others may have serious symptoms that can p... | 14 | Acquired Aplastic Anemia |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.