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nord_42_6 | Therapies of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia | There are currently no FDA-approved treatments for ALSP. Researchers are further investigating underlying disease mechanisms and symptom progression to develop more effective treatment options. Current treatment options do not reverse brain damage but instead are meant to manage symptoms. For patients with ALSP who hav... | Therapies of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. There are currently no FDA-approved treatments for ALSP. Researchers are further investigating underlying disease mechanisms and symptom progression to develop more effective treatment options. Current treatment options do not revers... | 42 | Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
nord_43_0 | Overview of Adult-Onset Still’s Disease | SummaryAdult-onset Still's disease (AOSD) is a rare inflammatory disorder that can affect the entire body (systemic disease). The cause of the disorder is unknown (idiopathic). Affected individuals may develop episodes of high, spiking fevers, a pink or salmon colored rash, joint pain, muscle pain, a sore throat and ot... | Overview of Adult-Onset Still’s Disease. SummaryAdult-onset Still's disease (AOSD) is a rare inflammatory disorder that can affect the entire body (systemic disease). The cause of the disorder is unknown (idiopathic). Affected individuals may develop episodes of high, spiking fevers, a pink or salmon colored rash... | 43 | Adult-Onset Still’s Disease |
nord_43_1 | Symptoms of Adult-Onset Still’s Disease | The symptoms, progression, and severity of AOSD are highly variable from one person to another, but three main patterns have been identified: Monophasic pattern: patients with monophasic AOSD have a single episode of symptoms that typically lasts weeks to months, but usually less than a year.Polyphasic (intermittent) p... | Symptoms of Adult-Onset Still’s Disease. The symptoms, progression, and severity of AOSD are highly variable from one person to another, but three main patterns have been identified: Monophasic pattern: patients with monophasic AOSD have a single episode of symptoms that typically lasts weeks to months, but usual... | 43 | Adult-Onset Still’s Disease |
nord_43_2 | Causes of Adult-Onset Still’s Disease | The cause of AOSD is unknown (idiopathic). Researchers believe that the disorder might be caused by a combination of genetic factors and an abnormal or exaggerated response to infections or other environmental exposures. AOSD is not a hereditary disease and usually does not run in families.Some researchers believe that... | Causes of Adult-Onset Still’s Disease. The cause of AOSD is unknown (idiopathic). Researchers believe that the disorder might be caused by a combination of genetic factors and an abnormal or exaggerated response to infections or other environmental exposures. AOSD is not a hereditary disease and usually does not ... | 43 | Adult-Onset Still’s Disease |
nord_43_3 | Affects of Adult-Onset Still’s Disease | The exact incidence of AOSD is unknown, but it is thought to affect between 1 and 34 people per million, depending on the population studied. Because of the highly variable symptoms and rarity of the disorder, it often goes undiagnosed or misdiagnosed, making it difficult to determine its true frequency in the general ... | Affects of Adult-Onset Still’s Disease. The exact incidence of AOSD is unknown, but it is thought to affect between 1 and 34 people per million, depending on the population studied. Because of the highly variable symptoms and rarity of the disorder, it often goes undiagnosed or misdiagnosed, making it difficult t... | 43 | Adult-Onset Still’s Disease |
nord_43_4 | Related disorders of Adult-Onset Still’s Disease | Symptoms of the following disorders can be similar to those of AOSD. Comparisons may be useful for a differential diagnosis.Autoinflammatory syndromes are a group of disorders characterized by recurrent episodes of inflammation due to an abnormality of the innate immune system. Symptoms of these syndromes often include... | Related disorders of Adult-Onset Still’s Disease. Symptoms of the following disorders can be similar to those of AOSD. Comparisons may be useful for a differential diagnosis.Autoinflammatory syndromes are a group of disorders characterized by recurrent episodes of inflammation due to an abnormality of the innate ... | 43 | Adult-Onset Still’s Disease |
nord_43_5 | Diagnosis of Adult-Onset Still’s Disease | The diagnosis of AOSD is difficult to make because there is no specific test or distinguishing laboratory finding that clearly differentiates the disorder from similar disorders. A diagnosis of AOSD is usually made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic f... | Diagnosis of Adult-Onset Still’s Disease. The diagnosis of AOSD is difficult to make because there is no specific test or distinguishing laboratory finding that clearly differentiates the disorder from similar disorders. A diagnosis of AOSD is usually made based upon a thorough clinical evaluation, a detailed pat... | 43 | Adult-Onset Still’s Disease |
nord_43_6 | Therapies of Adult-Onset Still’s Disease | TreatmentMany different therapies have been tried for individuals with AOSD. No one treatment has proven consistently effective in all patients. In addition to symptomatic and supportive treatment, a variety of different drugs taken alone or in combination may be used to treat affected individuals.Nonsteroidal anti-inf... | Therapies of Adult-Onset Still’s Disease. TreatmentMany different therapies have been tried for individuals with AOSD. No one treatment has proven consistently effective in all patients. In addition to symptomatic and supportive treatment, a variety of different drugs taken alone or in combination may be used to ... | 43 | Adult-Onset Still’s Disease |
nord_44_0 | Overview of AEC Syndrome | SummaryAnkyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome, which is also known as Hay-Wells syndrome, is a rare disorder characterized by a wide variety of symptoms that can affect the skin, hair, nails, teeth, certain glands, and the hands and feet. Common symptoms include abnormal fibrous strands of... | Overview of AEC Syndrome. SummaryAnkyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome, which is also known as Hay-Wells syndrome, is a rare disorder characterized by a wide variety of symptoms that can affect the skin, hair, nails, teeth, certain glands, and the hands and feet. Common symptoms include a... | 44 | AEC Syndrome |
nord_44_1 | Symptoms of AEC Syndrome | The symptoms of AEC syndrome are highly variable, even among members of the same family. In addition, the small number of identified cases, the lack of large clinical studies, and the possibility of other genes or factors influencing the disorder prevent physicians from developing a completely accurate picture of assoc... | Symptoms of AEC Syndrome. The symptoms of AEC syndrome are highly variable, even among members of the same family. In addition, the small number of identified cases, the lack of large clinical studies, and the possibility of other genes or factors influencing the disorder prevent physicians from developing a completely... | 44 | AEC Syndrome |
nord_44_2 | Causes of AEC Syndrome | AEC syndrome is caused by a mutation in the TP63 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 protein, this can a... | Causes of AEC Syndrome. AEC syndrome is caused by a mutation in the TP63 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 partic... | 44 | AEC Syndrome |
nord_44_3 | Affects of AEC Syndrome | AEC syndrome affects males and females in equal numbers. The exact incidence and prevalence of the disorder in the general population is unknown. AEC syndrome is a rare disorder and fewer than 100 affected individuals have been described in the medical literature. | Affects of AEC Syndrome. AEC syndrome affects males and females in equal numbers. The exact incidence and prevalence of the disorder in the general population is unknown. AEC syndrome is a rare disorder and fewer than 100 affected individuals have been described in the medical literature. | 44 | AEC Syndrome |
nord_44_4 | Related disorders of AEC Syndrome | Several disorders in addition to AEC syndrome are caused by mutations in different parts of the TP63 gene.Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder caused by mutations of the TP63 gene. (For more information choose “EEC” as your search term in the Rare Disease Database... | Related disorders of AEC Syndrome. Several disorders in addition to AEC syndrome are caused by mutations in different parts of the TP63 gene.Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder caused by mutations of the TP63 gene. (For more information choose “EEC” as your searc... | 44 | AEC Syndrome |
nord_44_5 | Diagnosis of AEC Syndrome | A diagnosis of AEC syndrome is based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. A variety of specialized tests can aid in a diagnosis. For example, molecular examination of small samples of skin tissue (skin biopsy) may reveal specific features such a... | Diagnosis of AEC Syndrome. A diagnosis of AEC syndrome is based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. A variety of specialized tests can aid in a diagnosis. For example, molecular examination of small samples of skin tissue (skin biopsy) may reve... | 44 | AEC Syndrome |
nord_44_6 | Therapies of AEC Syndrome | Treatment
The treatment of AEC 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, ophthalmologists, orthopedic surgeons, dermatologists, dentists, audiologists, otolaryngologists, and other health... | Therapies of AEC Syndrome. Treatment
The treatment of AEC 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, ophthalmologists, orthopedic surgeons, dermatologists, dentists, audiologists, otolaryn... | 44 | AEC Syndrome |
nord_45_0 | Overview of African Iron Overload | African iron overload is a rare disorder characterized abnormally elevated levels of iron in the body. The name originates from the initial description of this entity in sub-Saharan Africa, in communities where affected individuals drink a traditional, homemade beer that contains a high amount of iron. Symptoms may var... | Overview of African Iron Overload. African iron overload is a rare disorder characterized abnormally elevated levels of iron in the body. The name originates from the initial description of this entity in sub-Saharan Africa, in communities where affected individuals drink a traditional, homemade beer that contains a hi... | 45 | African Iron Overload |
nord_45_1 | Symptoms of African Iron Overload | The symptoms of African iron overload can vary from one person to another. The disorder usually develops in middle-aged or older adults. Affected individuals often develop abnormal enlargement of the liver (hepatomegaly). In more serious cases, the accumulation of fibrous tissue (fibrosis) in the main vein that supplie... | Symptoms of African Iron Overload. The symptoms of African iron overload can vary from one person to another. The disorder usually develops in middle-aged or older adults. Affected individuals often develop abnormal enlargement of the liver (hepatomegaly). In more serious cases, the accumulation of fibrous tissue (fibr... | 45 | African Iron Overload |
nord_45_2 | Causes of African Iron Overload | African iron overload was originally believed to be caused in individuals who had a diet high in iron, especially individuals in rural African communities that drank a homemade beer with high amounts of iron. However, many individuals in these regions who did not drink excessive amounts of this iron-rich beer also deve... | Causes of African Iron Overload. African iron overload was originally believed to be caused in individuals who had a diet high in iron, especially individuals in rural African communities that drank a homemade beer with high amounts of iron. However, many individuals in these regions who did not drink excessive amounts... | 45 | African Iron Overload |
nord_45_3 | Affects of African Iron Overload | African iron overload affects males and females in equal numbers. The exact incidence of the disorder is unknown. It has been reported in numerous countries in sub-Saharan Africa. Researchers believe that the disorder often goes unrecognized and is underdiagnosed, making it difficult to determine its true frequency in ... | Affects of African Iron Overload. African iron overload affects males and females in equal numbers. The exact incidence of the disorder is unknown. It has been reported in numerous countries in sub-Saharan Africa. Researchers believe that the disorder often goes unrecognized and is underdiagnosed, making it difficult t... | 45 | African Iron Overload |
nord_45_4 | Related disorders of African Iron Overload | Symptoms of the following disorders can be similar to those of African iron overload. Comparisons may be useful for a differential diagnosis.Primary disorders of iron overload are a group of primarily rare disorders characterized by iron accumulation in the body. This group includes hemochromatosis, atransferrinemia, a... | Related disorders of African Iron Overload. Symptoms of the following disorders can be similar to those of African iron overload. Comparisons may be useful for a differential diagnosis.Primary disorders of iron overload are a group of primarily rare disorders characterized by iron accumulation in the body. This group i... | 45 | African Iron Overload |
nord_45_5 | Diagnosis of African Iron Overload | A diagnosis of African iron overload is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests such as blood tests, which can reveal elevated levels of ferritin in the blood plasma. Ferritin is a protein that binds to iron... | Diagnosis of African Iron Overload. A diagnosis of African iron overload is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests such as blood tests, which can reveal elevated levels of ferritin in the blood plasma. Ferr... | 45 | African Iron Overload |
nord_45_6 | Therapies of African Iron Overload | TreatmentTherapy involving the regular removal of blood via a vein (known as a venesection or phlebotomy) is a common therapy for disorders associated with excess iron in the blood and should be beneficial to individuals with African iron overload. Controlled clinical studies of therapeutic phlebotomy for individuals w... | Therapies of African Iron Overload. TreatmentTherapy involving the regular removal of blood via a vein (known as a venesection or phlebotomy) is a common therapy for disorders associated with excess iron in the blood and should be beneficial to individuals with African iron overload. Controlled clinical studies of ther... | 45 | African Iron Overload |
nord_46_0 | Overview of Agammaglobulinemia | Agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes in the blood and lymph. Antibodies are proteins (immunoglobulins, (IgM), (IgG) etc) that are critical and key components of the immune system. They are... | Overview of Agammaglobulinemia. Agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes in the blood and lymph. Antibodies are proteins (immunoglobulins, (IgM), (IgG) etc) that are critical and key component... | 46 | Agammaglobulinemia |
nord_46_1 | Symptoms of Agammaglobulinemia | The major symptoms of agammaglobulinemia are serial bacterial infections resulting from failures in specific immune responses because of defects in B-lymphocytes. These lymphocytes govern the production of antibodies. Males with X-linked primary agammaglobulinemia usually begin to show signs of such infections only lat... | Symptoms of Agammaglobulinemia. The major symptoms of agammaglobulinemia are serial bacterial infections resulting from failures in specific immune responses because of defects in B-lymphocytes. These lymphocytes govern the production of antibodies. Males with X-linked primary agammaglobulinemia usually begin to show s... | 46 | Agammaglobulinemia |
nord_46_2 | Causes of Agammaglobulinemia | X-linked agammaglobulinemia (B-lymphocyte defect) is inherited as an X-linked recessive genetic trait. The abnormal gene, named BTK, has been mapped to gene locus Xq21.3-q22. A different mutation in the BTK gene causes X-linked agammaglobulinemia with growth hormone deficiency. The genetic cause of ARAG is much more ... | Causes of Agammaglobulinemia. X-linked agammaglobulinemia (B-lymphocyte defect) is inherited as an X-linked recessive genetic trait. The abnormal gene, named BTK, has been mapped to gene locus Xq21.3-q22. A different mutation in the BTK gene causes X-linked agammaglobulinemia with growth hormone deficiency. The genet... | 46 | Agammaglobulinemia |
nord_46_3 | Affects of Agammaglobulinemia | Primary Agammaglobulinemia is a rare disorder that occurs almost exclusively in males although some females have been affected by certain types of this disorder. | Affects of Agammaglobulinemia. Primary Agammaglobulinemia is a rare disorder that occurs almost exclusively in males although some females have been affected by certain types of this disorder. | 46 | Agammaglobulinemia |
nord_46_4 | Related disorders of Agammaglobulinemia | Symptoms of the following disorders can be similar to those of primary agammaglobulinemias. Comparisons may be useful for a differential diagnosis:Common Variable Immunodeficiency (CVID) is rare immunodeficiency disorder characterized by recurrent infections in the lungs, sinuses or ears. The range and severity of sym... | Related disorders of Agammaglobulinemia. Symptoms of the following disorders can be similar to those of primary agammaglobulinemias. Comparisons may be useful for a differential diagnosis:Common Variable Immunodeficiency (CVID) is rare immunodeficiency disorder characterized by recurrent infections in the lungs, sinuse... | 46 | Agammaglobulinemia |
nord_46_5 | Diagnosis of Agammaglobulinemia | Diagnosis of Agammaglobulinemia. | 46 | Agammaglobulinemia | |
nord_46_6 | Therapies of Agammaglobulinemia | The administration of intravenous gammaglobulin replacement therapy is a standard treatment for agammaglobulinemia. Intravenous gammaglobulin or subcutaneou. is used to treat agammaglobulinemias and common variable immunodeficiency.Antibiotics are prescribed for people with agammaglobulinemia when bacterial infections ... | Therapies of Agammaglobulinemia. The administration of intravenous gammaglobulin replacement therapy is a standard treatment for agammaglobulinemia. Intravenous gammaglobulin or subcutaneou. is used to treat agammaglobulinemias and common variable immunodeficiency.Antibiotics are prescribed for people with agammaglobul... | 46 | Agammaglobulinemia |
nord_47_0 | Overview of Agenesis of Corpus Callosum | Agenesis of corpus callosum (ACC) is a rare disorder that is present at birth (congenital). It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. This part of the brain is normally composed of transverse fibers. The cause of agenesis of corpu... | Overview of Agenesis of Corpus Callosum. Agenesis of corpus callosum (ACC) is a rare disorder that is present at birth (congenital). It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. This part of the brain is normally composed of transver... | 47 | Agenesis of Corpus Callosum |
nord_47_1 | Symptoms of Agenesis of Corpus Callosum | Agenesis of corpus callosum (ACC) may initially become evident through the onset of epileptic seizures during the first weeks of life or within the first two years. However, not all individuals with ACC have seizures. (For more information on these types of seizures choose “epilepsy” as your search term in ... | Symptoms of Agenesis of Corpus Callosum. Agenesis of corpus callosum (ACC) may initially become evident through the onset of epileptic seizures during the first weeks of life or within the first two years. However, not all individuals with ACC have seizures. (For more information on these types of seizures choose ̶... | 47 | Agenesis of Corpus Callosum |
nord_47_2 | Causes of Agenesis of Corpus Callosum | In most cases, the cause of ACC is unknown. However, agenesis of corpus callosum can be inherited as an autosomal recessive trait or an X-linked dominant trait. This disorder may also be due in part to an infection during pregnancy (intrauterine) leading to abnormal development of the fetal brain.Genetic diseases are d... | Causes of Agenesis of Corpus Callosum. In most cases, the cause of ACC is unknown. However, agenesis of corpus callosum can be inherited as an autosomal recessive trait or an X-linked dominant trait. This disorder may also be due in part to an infection during pregnancy (intrauterine) leading to abnormal development of... | 47 | Agenesis of Corpus Callosum |
nord_47_3 | Affects of Agenesis of Corpus Callosum | Agenesis of Corpus Callosum produces symptoms during the first two years of life in approximately ninety percent of those affected. It has been thought to be a very rare condition but the increased use of neuro-imaging techniques, such as MRI, is resulting in an increased rate of diagnosis. This condition may also be i... | Affects of Agenesis of Corpus Callosum. Agenesis of Corpus Callosum produces symptoms during the first two years of life in approximately ninety percent of those affected. It has been thought to be a very rare condition but the increased use of neuro-imaging techniques, such as MRI, is resulting in an increased rate of... | 47 | Agenesis of Corpus Callosum |
nord_47_4 | Related disorders of Agenesis of Corpus Callosum | Agenesis of corpus callosum can occur in conjunction with spina bifida. Spina bifida is a term meaning open (or non-fused) spine. In spina bifida, one or more of the individual bones of the spine fails to close completely, leaving a cleft or defect in the spinal canal. Part of the contents of the spine can protrude or ... | Related disorders of Agenesis of Corpus Callosum. Agenesis of corpus callosum can occur in conjunction with spina bifida. Spina bifida is a term meaning open (or non-fused) spine. In spina bifida, one or more of the individual bones of the spine fails to close completely, leaving a cleft or defect in the spinal canal. ... | 47 | Agenesis of Corpus Callosum |
nord_47_5 | Diagnosis of Agenesis of Corpus Callosum | Ultrasound and magnetic resonance imaging (MRI) are imaging techniques that aid in diagnosis of agenesis of corpus callosum. | Diagnosis of Agenesis of Corpus Callosum. Ultrasound and magnetic resonance imaging (MRI) are imaging techniques that aid in diagnosis of agenesis of corpus callosum. | 47 | Agenesis of Corpus Callosum |
nord_47_6 | Therapies of Agenesis of Corpus Callosum | TreatmentTreatment is symptomatic and supportive. Anti-seizure medications, special education, physical therapy, and related services may be of benefit depending upon the range and severity of symptoms. When hydrocephalus is present it may be treated with a surgical shunt to drain the fluid from the brain cavity, there... | Therapies of Agenesis of Corpus Callosum. TreatmentTreatment is symptomatic and supportive. Anti-seizure medications, special education, physical therapy, and related services may be of benefit depending upon the range and severity of symptoms. When hydrocephalus is present it may be treated with a surgical shunt to dr... | 47 | Agenesis of Corpus Callosum |
nord_48_0 | Overview of Agranulocytosis, Acquired | Acquired agranulocytosis is a rare, drug-induced blood disorder that is characterized by a severe reduction in the number of white blood cells (granulocytes) in the circulating blood. The name granulocyte refers to grain-like bodies within the cell. Granulocytes include basophils, eosinophils, and neutrophils.Acquired ... | Overview of Agranulocytosis, Acquired. Acquired agranulocytosis is a rare, drug-induced blood disorder that is characterized by a severe reduction in the number of white blood cells (granulocytes) in the circulating blood. The name granulocyte refers to grain-like bodies within the cell. Granulocytes include basophils,... | 48 | Agranulocytosis, Acquired |
nord_48_1 | Symptoms of Agranulocytosis, Acquired | The first symptoms of acquired agranulocytosis are usually those associated with a bacterial infection such as general weakness, chills, fever, and/or extreme exhaustion. Symptoms that are associated with rapidly falling white blood cell levels (granulocytopenia) may include the development of infected ulcers in the m... | Symptoms of Agranulocytosis, Acquired. The first symptoms of acquired agranulocytosis are usually those associated with a bacterial infection such as general weakness, chills, fever, and/or extreme exhaustion. Symptoms that are associated with rapidly falling white blood cell levels (granulocytopenia) may include the ... | 48 | Agranulocytosis, Acquired |
nord_48_2 | Causes of Agranulocytosis, Acquired | Acquired agranulocytosis is almost invariably caused by exposure to drugs and/or chemicals. Any chemical or drug that depresses the activity of the bone marrow may cause agranulocytosis. Some drugs cause this reaction in anyone given large enough doses. Other drugs may cause the reaction in one person but not in anot... | Causes of Agranulocytosis, Acquired. Acquired agranulocytosis is almost invariably caused by exposure to drugs and/or chemicals. Any chemical or drug that depresses the activity of the bone marrow may cause agranulocytosis. Some drugs cause this reaction in anyone given large enough doses. Other drugs may cause the r... | 48 | Agranulocytosis, Acquired |
nord_48_3 | Affects of Agranulocytosis, Acquired | Acquired Agranulocytosis is a rare blood disorder that affects males and females in equal numbers. People who are taking certain medications such as cancer drugs, alkylating agents, anti-thyroid drugs, dibenzepin compounds, or other drugs can be at risk for this disorder. | Affects of Agranulocytosis, Acquired. Acquired Agranulocytosis is a rare blood disorder that affects males and females in equal numbers. People who are taking certain medications such as cancer drugs, alkylating agents, anti-thyroid drugs, dibenzepin compounds, or other drugs can be at risk for this disorder. | 48 | Agranulocytosis, Acquired |
nord_48_4 | Related disorders of Agranulocytosis, Acquired | Symptoms of the following disorders can be similar to those of Acquired Agranulocytosis. Comparisons may be useful for a differential diagnosis:Chronic Granulomatous Disease is a very rare blood disorder that affects specialized white blood cells (i.e., neutrophils) and is characterized by widespread granular lesions ... | Related disorders of Agranulocytosis, Acquired. Symptoms of the following disorders can be similar to those of Acquired Agranulocytosis. Comparisons may be useful for a differential diagnosis:Chronic Granulomatous Disease is a very rare blood disorder that affects specialized white blood cells (i.e., neutrophils) and ... | 48 | Agranulocytosis, Acquired |
nord_48_5 | Diagnosis of Agranulocytosis, Acquired | The diagnosis of acquired agranulocytosis is made by combining a thorough history with tests to confirm abnormally low levels of granulocytes in the circulating blood. Regular periodic blood testing is required for individuals who take drugs that place them at high risk for acquired agranulocytosis. In some cases (e.g.... | Diagnosis of Agranulocytosis, Acquired. The diagnosis of acquired agranulocytosis is made by combining a thorough history with tests to confirm abnormally low levels of granulocytes in the circulating blood. Regular periodic blood testing is required for individuals who take drugs that place them at high risk for acqui... | 48 | Agranulocytosis, Acquired |
nord_48_6 | Therapies of Agranulocytosis, Acquired | TreatmentFilgrastim (Neupogen) has been designated an orphan drug and approved by the U.S. Food and Drug Administration (FDA) for the treatment of severe, chronic neutropenia; and it has become a standard treatment for acquired agranulocytosis. Filgrastim is one of a class of colony-stimulating factors that does, indee... | Therapies of Agranulocytosis, Acquired. TreatmentFilgrastim (Neupogen) has been designated an orphan drug and approved by the U.S. Food and Drug Administration (FDA) for the treatment of severe, chronic neutropenia; and it has become a standard treatment for acquired agranulocytosis. Filgrastim is one of a class of col... | 48 | Agranulocytosis, Acquired |
nord_49_0 | Overview of Ahumada-Del Castillo Syndrome | Ahumada-Del Castillo is a rare endocrine disorder affecting adult females, which is characterized by impairment in the function of the pituitary and hypothalamus glands. Symptoms may include the production of breast milk (lactation) not associated with nursing and the absence of menstrual periods (amenorrhea) due to th... | Overview of Ahumada-Del Castillo Syndrome. Ahumada-Del Castillo is a rare endocrine disorder affecting adult females, which is characterized by impairment in the function of the pituitary and hypothalamus glands. Symptoms may include the production of breast milk (lactation) not associated with nursing and the absence ... | 49 | Ahumada-Del Castillo Syndrome |
nord_49_1 | Symptoms of Ahumada-Del Castillo Syndrome | The symptoms of Ahumada-Del Castillo syndrome include the abnormal production of breast milk (galactorrhea) without childbirth and nursing, and the lack of regular menstrual periods (amenorrhea). Women with this disorder have breasts and nipples of normal size and appearance. Secondary female sexual characteristics, ... | Symptoms of Ahumada-Del Castillo Syndrome. The symptoms of Ahumada-Del Castillo syndrome include the abnormal production of breast milk (galactorrhea) without childbirth and nursing, and the lack of regular menstrual periods (amenorrhea). Women with this disorder have breasts and nipples of normal size and appearance.... | 49 | Ahumada-Del Castillo Syndrome |
nord_49_2 | Causes of Ahumada-Del Castillo Syndrome | The exact cause of Ahumada-Del Castillo syndrome is not known, although some research suggests that small tumors in the pituitary or hypothalamus glands may be responsible for some cases. These tumors are frequently microscopic and extremely difficult to detect. Rarer causes of Ahumada-Del Castillo syndrome may be as... | Causes of Ahumada-Del Castillo Syndrome. The exact cause of Ahumada-Del Castillo syndrome is not known, although some research suggests that small tumors in the pituitary or hypothalamus glands may be responsible for some cases. These tumors are frequently microscopic and extremely difficult to detect. Rarer causes o... | 49 | Ahumada-Del Castillo Syndrome |
nord_49_3 | Affects of Ahumada-Del Castillo Syndrome | Ahumada-Del Castillo affects only females. The symptoms usually begin during adulthood. | Affects of Ahumada-Del Castillo Syndrome. Ahumada-Del Castillo affects only females. The symptoms usually begin during adulthood. | 49 | Ahumada-Del Castillo Syndrome |
nord_49_4 | Related disorders of Ahumada-Del Castillo Syndrome | Symptoms of the following disorders can be similar to those of Ahumada-Del Castillo syndrome. Comparisons may be useful for a differential diagnosis:Chiari-Frommel syndrome is a rare endocrine disorder that affects females who have recently had a baby (postpartum). It is characterized by the production of breast milk... | Related disorders of Ahumada-Del Castillo Syndrome. Symptoms of the following disorders can be similar to those of Ahumada-Del Castillo syndrome. Comparisons may be useful for a differential diagnosis:Chiari-Frommel syndrome is a rare endocrine disorder that affects females who have recently had a baby (postpartum). ... | 49 | Ahumada-Del Castillo Syndrome |
nord_49_5 | Diagnosis of Ahumada-Del Castillo Syndrome | Diagnosis of Ahumada-Del Castillo Syndrome. | 49 | Ahumada-Del Castillo Syndrome | |
nord_49_6 | Therapies of Ahumada-Del Castillo Syndrome | The diagnosis of Ahumada-Del Castillo Syndrome is usually made by specialized blood tests that detect abnormally elevated levels of the milk-producing hormone prolactin and low levels of the other hormones such as gonadotropins (e.g., follicle stimulating hormone or FSH).The treatment of Ahumada-Del Castillo syndrome i... | Therapies of Ahumada-Del Castillo Syndrome. The diagnosis of Ahumada-Del Castillo Syndrome is usually made by specialized blood tests that detect abnormally elevated levels of the milk-producing hormone prolactin and low levels of the other hormones such as gonadotropins (e.g., follicle stimulating hormone or FSH).The ... | 49 | Ahumada-Del Castillo Syndrome |
nord_50_0 | Overview of Aicardi Syndrome | SummaryAicardi syndrome is an extremely rare genetic disorder. Almost all people with Aicardi syndrome are females. Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures. Agenesis of the corpus callosum means that the structure that connects the right half of the bra... | Overview of Aicardi Syndrome. SummaryAicardi syndrome is an extremely rare genetic disorder. Almost all people with Aicardi syndrome are females. Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures. Agenesis of the corpus callosum means that the structure that conn... | 50 | Aicardi Syndrome |
nord_50_1 | Symptoms of Aicardi Syndrome | Aicardi syndrome typically begins as involuntary muscle spasms between four months and four years of age. Other symptoms may include epilepsy, intellectual disability, profound muscle weakness (hypotonia), abnormally small eyes (microphthalmia), an incomplete development of the retina and nerve in the back of the eye (... | Symptoms of Aicardi Syndrome. Aicardi syndrome typically begins as involuntary muscle spasms between four months and four years of age. Other symptoms may include epilepsy, intellectual disability, profound muscle weakness (hypotonia), abnormally small eyes (microphthalmia), an incomplete development of the retina and ... | 50 | Aicardi Syndrome |
nord_50_2 | Causes of Aicardi Syndrome | Aicardi syndrome is likely caused by a new change (variant or mutation) in a gene located on the X chromosome. The gene that causes Aicardi syndrome is not known. A report describing changes in the genes TEAD1 and OCEL1 in two girls with Aicardi syndrome was not confirmed in a large cohort of other girls with Aicardi s... | Causes of Aicardi Syndrome. Aicardi syndrome is likely caused by a new change (variant or mutation) in a gene located on the X chromosome. The gene that causes Aicardi syndrome is not known. A report describing changes in the genes TEAD1 and OCEL1 in two girls with Aicardi syndrome was not confirmed in a large cohort o... | 50 | Aicardi Syndrome |
nord_50_3 | Affects of Aicardi Syndrome | Aicardi syndrome usually affects only females. In very rare cases, males with Klinefelter syndrome (47, XXY) may have Aicardi syndrome. It has been estimated that there are between 300 and 500 people reported to have Aicardi syndrome worldwide. There do not appear to be any differences based on race or ethnicity. | Affects of Aicardi Syndrome. Aicardi syndrome usually affects only females. In very rare cases, males with Klinefelter syndrome (47, XXY) may have Aicardi syndrome. It has been estimated that there are between 300 and 500 people reported to have Aicardi syndrome worldwide. There do not appear to be any differences base... | 50 | Aicardi Syndrome |
nord_50_4 | Related disorders of Aicardi Syndrome | Symptoms of the following disorders can be similar to those of Aicardi Syndrome. Comparisons may be useful for a differential diagnosis:Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR) can be confused with Aicardi syndrome. In MCLMR, the eye abnormalities are on t... | Related disorders of Aicardi Syndrome. Symptoms of the following disorders can be similar to those of Aicardi Syndrome. Comparisons may be useful for a differential diagnosis:Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR) can be confused with Aicardi syndrome. I... | 50 | Aicardi Syndrome |
nord_50_5 | Diagnosis of Aicardi Syndrome | An MRI of the brain is usually the first step in diagnosing Aicardi syndrome. This study takes pictures of the brain to look for a small or missing corpus callosum and other problems with the formation of the brain. Individuals with Aicardi syndrome should have a test to look at the brain waves (EEG) to diagnose and tr... | Diagnosis of Aicardi Syndrome. An MRI of the brain is usually the first step in diagnosing Aicardi syndrome. This study takes pictures of the brain to look for a small or missing corpus callosum and other problems with the formation of the brain. Individuals with Aicardi syndrome should have a test to look at the brain... | 50 | Aicardi Syndrome |
nord_50_6 | Therapies of Aicardi Syndrome | Treatment
Medications may be used to suppress the seizures caused by Aicardi syndrome. The seizures are often hard to treat, and no specific seizure medication works for all girls with Aicardi syndrome. The doctor may need to try several medicines to see which medication works best. | Therapies of Aicardi Syndrome. Treatment
Medications may be used to suppress the seizures caused by Aicardi syndrome. The seizures are often hard to treat, and no specific seizure medication works for all girls with Aicardi syndrome. The doctor may need to try several medicines to see which medication works best. | 50 | Aicardi Syndrome |
nord_51_0 | Overview of Aicardi-Goutières Syndrome | SummaryAicardi-Goutières syndrome (AGS) is a progressive disease of the brain (encephalopathy) that presents within the first year of life. Some of the signs of this syndrome are a small head (microcephaly), brain calcifications (basal ganglia and other locations), abnormalities in the white matter tracts of the brain,... | Overview of Aicardi-Goutières Syndrome. SummaryAicardi-Goutières syndrome (AGS) is a progressive disease of the brain (encephalopathy) that presents within the first year of life. Some of the signs of this syndrome are a small head (microcephaly), brain calcifications (basal ganglia and other locations), abnormalities ... | 51 | Aicardi-Goutières Syndrome |
nord_51_1 | Symptoms of Aicardi-Goutières Syndrome | AGS is a disease that affects the white matter of the brain (leukoencephalopathy) and may result in severe intellectual and physical disability. Some infants will present variably in the first few weeks of life with irritability, fever, abnormal muscle contractions (dystonia), microcephaly, basal ganglia calcifications... | Symptoms of Aicardi-Goutières Syndrome. AGS is a disease that affects the white matter of the brain (leukoencephalopathy) and may result in severe intellectual and physical disability. Some infants will present variably in the first few weeks of life with irritability, fever, abnormal muscle contractions (dystonia), mi... | 51 | Aicardi-Goutières Syndrome |
nord_51_2 | Causes of Aicardi-Goutières Syndrome | Aicardi-Goutières syndrome is caused by changes (pathogenic variants or mutations) in several different genes including TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADAR1, IFIH, LSM11 and RNU7-1. These variants disrupt cellular signaling and production of immune-related molecules (interferons). AGS is characterized as ... | Causes of Aicardi-Goutières Syndrome. Aicardi-Goutières syndrome is caused by changes (pathogenic variants or mutations) in several different genes including TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADAR1, IFIH, LSM11 and RNU7-1. These variants disrupt cellular signaling and production of immune-related molecules (... | 51 | Aicardi-Goutières Syndrome |
nord_51_3 | Affects of Aicardi-Goutières Syndrome | The prevalence of AGS is unknown. Studies suggest that AGS is one of the most common genetic disorders affecting the white matter of the brain. | Affects of Aicardi-Goutières Syndrome. The prevalence of AGS is unknown. Studies suggest that AGS is one of the most common genetic disorders affecting the white matter of the brain. | 51 | Aicardi-Goutières Syndrome |
nord_51_4 | Related disorders of Aicardi-Goutières Syndrome | Since calcification of the basal ganglia can be seen in many disorders, it is important to rule out other potential causes of the clinical features. The following are a few conditions with similar symptoms | Related disorders of Aicardi-Goutières Syndrome. Since calcification of the basal ganglia can be seen in many disorders, it is important to rule out other potential causes of the clinical features. The following are a few conditions with similar symptoms | 51 | Aicardi-Goutières Syndrome |
nord_51_5 | Diagnosis of Aicardi-Goutières Syndrome | Aicardi-Goutières syndrome can be diagnosed when there is suspicion based on clinical features in addition to characteristic neuroimaging and laboratory findings. Neuroradiographic findings best visualized by CT scan or MRI include calcifications of the basal ganglia, particularly the putamen, globus pallidus and thala... | Diagnosis of Aicardi-Goutières Syndrome. Aicardi-Goutières syndrome can be diagnosed when there is suspicion based on clinical features in addition to characteristic neuroimaging and laboratory findings. Neuroradiographic findings best visualized by CT scan or MRI include calcifications of the basal ganglia, particular... | 51 | Aicardi-Goutières Syndrome |
nord_51_6 | Therapies of Aicardi-Goutières Syndrome | TreatmentA multidisciplinary approach to the support and care of affected individuals is necessary.There are no definitive or curative treatments for Aicardi-Goutières syndrome. However, recent medical advances have shown janus kinase inhibitors to be useful in suppressing interferon activation in individuals with AGS.... | Therapies of Aicardi-Goutières Syndrome. TreatmentA multidisciplinary approach to the support and care of affected individuals is necessary.There are no definitive or curative treatments for Aicardi-Goutières syndrome. However, recent medical advances have shown janus kinase inhibitors to be useful in suppressing inter... | 51 | Aicardi-Goutières Syndrome |
nord_52_0 | Overview of AIDS Dysmorphic Syndrome | The term “AIDS dysmorphic syndrome” or “HIV embryopathy” has been used by some researchers to describe specific facial malformations (i.e., craniofacial dysmorphism), an unusually small head, and growth deficiency in some infants infected with HIV.* Such craniofacial abnormalities have included ... | Overview of AIDS Dysmorphic Syndrome. The term “AIDS dysmorphic syndrome” or “HIV embryopathy” has been used by some researchers to describe specific facial malformations (i.e., craniofacial dysmorphism), an unusually small head, and growth deficiency in some infants infected with HIV.* Such cra... | 52 | AIDS Dysmorphic Syndrome |
nord_52_1 | Symptoms of AIDS Dysmorphic Syndrome | Some researchers have reported particular craniofacial abnormalities, described as “AIDS dysmorphic syndrome” or “HIV embryopathy”, in some infants who acquired HIV infection from their mother (perinatally). Such features have included a small head circumference (microcephaly); a prominent, box... | Symptoms of AIDS Dysmorphic Syndrome. Some researchers have reported particular craniofacial abnormalities, described as “AIDS dysmorphic syndrome” or “HIV embryopathy”, in some infants who acquired HIV infection from their mother (perinatally). Such features have included a small head circumfe... | 52 | AIDS Dysmorphic Syndrome |
nord_52_2 | Causes of AIDS Dysmorphic Syndrome | Most new cases of HIV infection in young children (pediatric HIV infection) are caused by transmission from the mother during pregnancy, labor and delivery, or breastfeeding (perinatal transmission). Estimates suggest that the transmission rate from untreated HIV-positive mothers in the United States is approximately ... | Causes of AIDS Dysmorphic Syndrome. Most new cases of HIV infection in young children (pediatric HIV infection) are caused by transmission from the mother during pregnancy, labor and delivery, or breastfeeding (perinatal transmission). Estimates suggest that the transmission rate from untreated HIV-positive mothers in... | 52 | AIDS Dysmorphic Syndrome |
nord_52_3 | Affects of AIDS Dysmorphic Syndrome | Perinatal HIV infection is thought to affect males and females in relatively equal numbers. As noted above, in some cases, certain dysmorphic features have been observed prior to the onset of symptoms associated with immunodeficiency. However, the significance of such observations has been questioned (see “Symp... | Affects of AIDS Dysmorphic Syndrome. Perinatal HIV infection is thought to affect males and females in relatively equal numbers. As noted above, in some cases, certain dysmorphic features have been observed prior to the onset of symptoms associated with immunodeficiency. However, the significance of such observations... | 52 | AIDS Dysmorphic Syndrome |
nord_52_4 | Related disorders of AIDS Dysmorphic Syndrome | Related disorders of AIDS Dysmorphic Syndrome. | 52 | AIDS Dysmorphic Syndrome | |
nord_52_5 | Diagnosis of AIDS Dysmorphic Syndrome | Perinatal HIV infection is considered in infants of mothers known to be HIV-positive and/or in infants and children who have certain characteristic symptoms of HIV infection or immune system abnormalities. Infants who are born to mothers with HIV have antibodies against the virus in the bloodstream at birth (passively ... | Diagnosis of AIDS Dysmorphic Syndrome. Perinatal HIV infection is considered in infants of mothers known to be HIV-positive and/or in infants and children who have certain characteristic symptoms of HIV infection or immune system abnormalities. Infants who are born to mothers with HIV have antibodies against the virus ... | 52 | AIDS Dysmorphic Syndrome |
nord_52_6 | Therapies of AIDS Dysmorphic Syndrome | TreatmentDisease management and treatment may require the coordinated efforts of a team of medical professionals, including obstetricians, pediatricians, specialists in HIV infection, and additional health care professionals.If pregnant women are infected with HIV, certain preventive measures may help to decrease the r... | Therapies of AIDS Dysmorphic Syndrome. TreatmentDisease management and treatment may require the coordinated efforts of a team of medical professionals, including obstetricians, pediatricians, specialists in HIV infection, and additional health care professionals.If pregnant women are infected with HIV, certain prevent... | 52 | AIDS Dysmorphic Syndrome |
nord_53_0 | Overview of ALAD Porphyria | SummaryALAD porphyria is a very rare genetic metabolic disease characterized by almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) dehydratase. Deficiency of this enzyme leads to the accumulation of the porphyrin precursor ALA, which can potentially result in a variety of symptoms. Symptoms vary f... | Overview of ALAD Porphyria. SummaryALAD porphyria is a very rare genetic metabolic disease characterized by almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) dehydratase. Deficiency of this enzyme leads to the accumulation of the porphyrin precursor ALA, which can potentially result in a variety ... | 53 | ALAD Porphyria |
nord_53_1 | Symptoms of ALAD Porphyria | The onset, severity and type of symptoms can vary greatly in individuals with a specific type of porphyria. This variation may depend on, in part, the amount of residual enzyme activity in each individual. Individuals with more significant enzyme deficiency may have more severe symptoms and earlier onset. Individuals w... | Symptoms of ALAD Porphyria. The onset, severity and type of symptoms can vary greatly in individuals with a specific type of porphyria. This variation may depend on, in part, the amount of residual enzyme activity in each individual. Individuals with more significant enzyme deficiency may have more severe symptoms and ... | 53 | ALAD Porphyria |
nord_53_2 | Causes of ALAD Porphyria | ALAD porphyria is caused by mutations in the ALAD gene, and the disease is inherited as an autosomal recessive disorder. This means that both copies of the ALAD gene have a mutation. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father a... | Causes of ALAD Porphyria. ALAD porphyria is caused by mutations in the ALAD gene, and the disease is inherited as an autosomal recessive disorder. This means that both copies of the ALAD gene have a mutation. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes ... | 53 | ALAD Porphyria |
nord_53_3 | Affects of ALAD Porphyria | ALAD porphyria is an extremely rare disorder with few cases reported in the medical literature. Most cases have occurred in Europe. However, the disorder can potentially occur in any population. More males have been identified with ALAD porphyria than females in the medical literature, but the disorder affects probably... | Affects of ALAD Porphyria. ALAD porphyria is an extremely rare disorder with few cases reported in the medical literature. Most cases have occurred in Europe. However, the disorder can potentially occur in any population. More males have been identified with ALAD porphyria than females in the medical literature, but th... | 53 | ALAD Porphyria |
nord_53_4 | Related disorders of ALAD Porphyria | Symptoms of the following disorders can be similar to those of ALAD porphyria. Comparisons may be useful for a differential diagnosis.Lead poisoning occurs when lead accumulates in the tissues of the body. This accumulation may occur slowly over months or years. The symptoms of lead poisoning vary depending upon the am... | Related disorders of ALAD Porphyria. Symptoms of the following disorders can be similar to those of ALAD porphyria. Comparisons may be useful for a differential diagnosis.Lead poisoning occurs when lead accumulates in the tissues of the body. This accumulation may occur slowly over months or years. The symptoms of lead... | 53 | ALAD Porphyria |
nord_53_5 | Diagnosis of ALAD Porphyria | A diagnosis of ALAD porphyria is made based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation and of specialized tests that can detect delta-aminolevulinic acid in the urine.Molecular genetic testing can confirm a diagnosis of ALAD porphyria by identifying th... | Diagnosis of ALAD Porphyria. A diagnosis of ALAD porphyria is made based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation and of specialized tests that can detect delta-aminolevulinic acid in the urine.Molecular genetic testing can confirm a diagnosis of ALA... | 53 | ALAD Porphyria |
nord_53_6 | Therapies of ALAD Porphyria | TreatmentThe treatment of ALAD porphyria is directed toward the specific symptoms that are present in each individual. Because there have been so few cases of ALAD porphyria, there is only limited information on treatment for the disorder.Avoidance of triggering factors such as alcohol, certain drugs, fasting, and low ... | Therapies of ALAD Porphyria. TreatmentThe treatment of ALAD porphyria is directed toward the specific symptoms that are present in each individual. Because there have been so few cases of ALAD porphyria, there is only limited information on treatment for the disorder.Avoidance of triggering factors such as alcohol, cer... | 53 | ALAD Porphyria |
nord_54_0 | Overview of Alagille Syndrome | Alagille syndrome (ALGS) is a rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. The specific symptoms and severity of Alagille syndrome can vary greatly from one person to another, even within the same family. Some individuals may have mild ... | Overview of Alagille Syndrome. Alagille syndrome (ALGS) is a rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. The specific symptoms and severity of Alagille syndrome can vary greatly from one person to another, even within the same family. ... | 54 | Alagille Syndrome |
nord_54_1 | Symptoms of Alagille Syndrome | The symptoms and severity of Alagille syndrome can vary greatly from one person to another, even among members of the same family. Some individuals may have a mild form of the disorder that can virtually go unnoticed; other individuals may have a serious form of the disorder that can potentially cause life-threatening ... | Symptoms of Alagille Syndrome. The symptoms and severity of Alagille syndrome can vary greatly from one person to another, even among members of the same family. Some individuals may have a mild form of the disorder that can virtually go unnoticed; other individuals may have a serious form of the disorder that can pote... | 54 | Alagille Syndrome |
nord_54_2 | Causes of Alagille Syndrome | Alagille syndrome is caused by mutations in one of two genes – the JAG1 gene or the NOTCH2 gene. Mutations of the JAG1 gene have been identified in more than 88 percent of cases. Mutations in the NOTCH2 gene account for less than 1 percent of cases. These mutations are inherited in an autosomal dominant pattern. In som... | Causes of Alagille Syndrome. Alagille syndrome is caused by mutations in one of two genes – the JAG1 gene or the NOTCH2 gene. Mutations of the JAG1 gene have been identified in more than 88 percent of cases. Mutations in the NOTCH2 gene account for less than 1 percent of cases. These mutations are inherited in an autos... | 54 | Alagille Syndrome |
nord_54_3 | Affects of Alagille Syndrome | Alagille syndrome affects males and females in equal numbers. The incidence of Alagille syndrome has been estimated to be approximately 1 in 30,000-45,000 individuals in the general population. Some cases of Alagille syndrome may go undiagnosed or misdiagnosed making it difficult to determine the true frequency of Alag... | Affects of Alagille Syndrome. Alagille syndrome affects males and females in equal numbers. The incidence of Alagille syndrome has been estimated to be approximately 1 in 30,000-45,000 individuals in the general population. Some cases of Alagille syndrome may go undiagnosed or misdiagnosed making it difficult to determ... | 54 | Alagille Syndrome |
nord_54_4 | Related disorders of Alagille Syndrome | Symptoms of the following disorders can be similar to those of Alagille syndrome. Comparisons may be useful for a differential diagnosis.Extrahepatic biliary atresia is a rare gastrointestinal disorder characterized by destruction or absence of all or a portion of the bile duct that lies outside the liver (extrahepatic... | Related disorders of Alagille Syndrome. Symptoms of the following disorders can be similar to those of Alagille syndrome. Comparisons may be useful for a differential diagnosis.Extrahepatic biliary atresia is a rare gastrointestinal disorder characterized by destruction or absence of all or a portion of the bile duct t... | 54 | Alagille Syndrome |
nord_54_5 | Diagnosis of Alagille Syndrome | A diagnosis of Alagille syndrome is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Because the symptoms of Alagille syndrome are highly variable, obtaining a diagnosis can be difficult. Surgical removal and micros... | Diagnosis of Alagille Syndrome. A diagnosis of Alagille syndrome is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Because the symptoms of Alagille syndrome are highly variable, obtaining a diagnosis can be diffic... | 54 | Alagille Syndrome |
nord_54_6 | Therapies of Alagille Syndrome | The treatment of Alagille 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, gastroenterologists, cardiologists, ophthalmologists, and other healthcare professionals may need to systematically and... | Therapies of Alagille Syndrome. The treatment of Alagille 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, gastroenterologists, cardiologists, ophthalmologists, and other healthcare professional... | 54 | Alagille Syndrome |
nord_55_0 | Overview of Alexander Disease | SummaryAlexander disease is an extremely rare, usually progressive and fatal, neurological disorder. Initially it was detected most often during infancy or early childhood, but as better diagnostic tools have become available has been found to occur with similar frequency at all stages of life. Alexander disease has hi... | Overview of Alexander Disease. SummaryAlexander disease is an extremely rare, usually progressive and fatal, neurological disorder. Initially it was detected most often during infancy or early childhood, but as better diagnostic tools have become available has been found to occur with similar frequency at all stages of... | 55 | Alexander Disease |
nord_55_1 | Symptoms of Alexander Disease | Historically, three forms of Alexander disease have been described based on age of onset, Infantile, Juvenile and Adult; but an analysis of a large number of patients concluded that the disease is better described as having two forms, Type I, which generally has an onset by age 4, and Type II, which can have onset at a... | Symptoms of Alexander Disease. Historically, three forms of Alexander disease have been described based on age of onset, Infantile, Juvenile and Adult; but an analysis of a large number of patients concluded that the disease is better described as having two forms, Type I, which generally has an onset by age 4, and Typ... | 55 | Alexander Disease |
nord_55_2 | Causes of Alexander Disease | About 95% of Alexander disease cases are caused by mutations in a gene called GFAP for a structural protein called glial fibrillary acidic protein that is found exclusively in astrocytes in the CNS. The cause of the other 5% of cases is not known.The GFAP mutations are dominant. Dominant genetic disorders occur when on... | Causes of Alexander Disease. About 95% of Alexander disease cases are caused by mutations in a gene called GFAP for a structural protein called glial fibrillary acidic protein that is found exclusively in astrocytes in the CNS. The cause of the other 5% of cases is not known.The GFAP mutations are dominant. Dominant ge... | 55 | Alexander Disease |
nord_55_3 | Affects of Alexander Disease | Alexander disease has been estimated to occur at a frequency of about 1 in 1 million births. No racial, ethnic, geographic, or sex preference has been observed, nor is any expected given the de novo (new) nature of the mutations responsible for most cases. Although initially diagnosed primarily in young children, it is... | Affects of Alexander Disease. Alexander disease has been estimated to occur at a frequency of about 1 in 1 million births. No racial, ethnic, geographic, or sex preference has been observed, nor is any expected given the de novo (new) nature of the mutations responsible for most cases. Although initially diagnosed prim... | 55 | Alexander Disease |
nord_55_4 | Related disorders of Alexander Disease | Symptoms of the following disorders can be similar to those of Alexander disease. Comparisons may be useful for a differential diagnosis:Hydrocephalus is a condition in which the normal flow of cerebrospinal fluid (CSF) is restricted and the spaces in the brain (ventricles) become abnormally enlarged. Fluid accumulates... | Related disorders of Alexander Disease. Symptoms of the following disorders can be similar to those of Alexander disease. Comparisons may be useful for a differential diagnosis:Hydrocephalus is a condition in which the normal flow of cerebrospinal fluid (CSF) is restricted and the spaces in the brain (ventricles) becom... | 55 | Alexander Disease |
nord_55_5 | Diagnosis of Alexander Disease | For many years a brain biopsy to determine the presence of Rosenthal fibers was required for the diagnosis of Alexander disease. However, even this procedure can be ambiguous, because Rosenthal fibers are also found in certain other disorders, such as tumors of astrocytes. More recently, MRI criteria have been develope... | Diagnosis of Alexander Disease. For many years a brain biopsy to determine the presence of Rosenthal fibers was required for the diagnosis of Alexander disease. However, even this procedure can be ambiguous, because Rosenthal fibers are also found in certain other disorders, such as tumors of astrocytes. More recently,... | 55 | Alexander Disease |
nord_55_6 | Therapies of Alexander Disease | TreatmentTreatment is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families. Fetal diagnosis is an option for a couple who have had a previously affected child. | Therapies of Alexander Disease. TreatmentTreatment is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families. Fetal diagnosis is an option for a couple who have had a previously affected child. | 55 | Alexander Disease |
nord_56_0 | Overview of Alkaptonuria | Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air. However, ... | Overview of Alkaptonuria. Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when... | 56 | Alkaptonuria |
nord_56_1 | Symptoms of Alkaptonuria | Alkaptonuria is a genetic disorder, and urine that turns dark is present from birth. However, additional symptoms usually do not appear until adulthood. Symptoms are generally slowly progressive. The urine of individuals with alkaptonuria may be abnormally dark or it may turn black upon long-standing exposure to the ai... | Symptoms of Alkaptonuria. Alkaptonuria is a genetic disorder, and urine that turns dark is present from birth. However, additional symptoms usually do not appear until adulthood. Symptoms are generally slowly progressive. The urine of individuals with alkaptonuria may be abnormally dark or it may turn black upon long-s... | 56 | Alkaptonuria |
nord_56_2 | Causes of Alkaptonuria | Alkaptonuria is caused by mutation of the homogentisate 1,2-dioxygenase (HGD) gene. The HGD gene contains instructions for creating (encoding) an enzyme known as homogentisate 1,2-dioxygenase. This enzyme is essential for the breakdown of homogentisic acid. Mutations of the HGD gene result in deficient levels of functi... | Causes of Alkaptonuria. Alkaptonuria is caused by mutation of the homogentisate 1,2-dioxygenase (HGD) gene. The HGD gene contains instructions for creating (encoding) an enzyme known as homogentisate 1,2-dioxygenase. This enzyme is essential for the breakdown of homogentisic acid. Mutations of the HGD gene result in de... | 56 | Alkaptonuria |
nord_56_3 | Affects of Alkaptonuria | Alkaptonuria affects males and females in equal numbers, although symptoms tend to develop sooner and become more severe in males. More than 1,000 affected individuals have been reported in the medical literature. The exact incidence of alkaptonuria is unknown. In the United States it is estimated to occur in 1 in 250,... | Affects of Alkaptonuria. Alkaptonuria affects males and females in equal numbers, although symptoms tend to develop sooner and become more severe in males. More than 1,000 affected individuals have been reported in the medical literature. The exact incidence of alkaptonuria is unknown. In the United States it is estima... | 56 | Alkaptonuria |
nord_56_4 | Related disorders of Alkaptonuria | Symptoms of the following disorders can be similar to those of alkaptonuria. Comparisons may be useful for a differential diagnosis.Ochronosis can also occur as a reversible, acquired condition that is unrelated to alkaptonuria. In such cases, ochronosis occurs secondary to exposure to a variety of substances including... | Related disorders of Alkaptonuria. Symptoms of the following disorders can be similar to those of alkaptonuria. Comparisons may be useful for a differential diagnosis.Ochronosis can also occur as a reversible, acquired condition that is unrelated to alkaptonuria. In such cases, ochronosis occurs secondary to exposure t... | 56 | Alkaptonuria |
nord_56_5 | Diagnosis of Alkaptonuria | The diagnosis of alkaptonuria is made upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Identification of vastly elevated levels of homogentisic acid in the urine is indicative of alkaptonuria. Alkaptonuria should be suspected ... | Diagnosis of Alkaptonuria. The diagnosis of alkaptonuria is made upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Identification of vastly elevated levels of homogentisic acid in the urine is indicative of alkaptonuria. Alkapt... | 56 | Alkaptonuria |
nord_56_6 | Therapies of Alkaptonuria | TreatmentThe treatment of alkaptonuria is aimed at the specific symptoms that are present in each individual. Individuals with alkaptonuria often receive anti-inflammatory medications to treat joint pain. In severe cases, stronger medications such as narcotics may be recommended. Pain management is tailored to each ind... | Therapies of Alkaptonuria. TreatmentThe treatment of alkaptonuria is aimed at the specific symptoms that are present in each individual. Individuals with alkaptonuria often receive anti-inflammatory medications to treat joint pain. In severe cases, stronger medications such as narcotics may be recommended. Pain managem... | 56 | Alkaptonuria |
nord_57_0 | Overview of Alopecia Areata | Alopecia areata is a disorder characterized by loss of hair. Sometimes, this means simply a few bare patches on the scalp. In other cases, hair loss is more extensive. Although the exact cause is not known, this is thought to be an autoimmune disorder in which the immune system, the body's own defense system, mistakenl... | Overview of Alopecia Areata. Alopecia areata is a disorder characterized by loss of hair. Sometimes, this means simply a few bare patches on the scalp. In other cases, hair loss is more extensive. Although the exact cause is not known, this is thought to be an autoimmune disorder in which the immune system, the body's ... | 57 | Alopecia Areata |
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