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HD
MCID: HNT001
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Huntington's Disease malady |
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4 drugs, 645 genes, 14 tissues, 624 related diseases, 28 phenotypes, 597 articles, clinical trials, genetic tests.
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 23MedlinePlus, 15GeneReviews, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NINDS: Huntington's disease (HD) results from genetically programmed degeneration of brain cells, called neurons, in certain areas
of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance.
HD is a familial disease, passed from parent to child through a mutation in the normal gene. Each child of an HD parent has
a 50-50 chance of inheriting the HD gene. If a child does not inherit the HD gene, he or she will not develop the disease
and cannot pass it to subsequent generations. A person who inherits the HD gene will sooner or later develop the disease.
Whether one child inherits the gene has no bearing on whether others will or will not inherit the gene. Some early symptoms
of HD are mood swings, depression, irritability or trouble driving, learning new things, remembering a fact, or making a decision.
As the disease progresses, concentration on intellectual tasks becomes increasingly difficult and the patient may have difficulty
feeding himself or herself and swallowing. The rate of disease progression and the age of onset vary from person to person.
A genetic test, coupled with a complete medical history and neurological and laboratory tests, helps physicians diagnose HD.
Presymptomic testing is available for individuals who are at risk for carrying the HD gene. In 1 to 3 percent of individuals
with HD, no family history of HD can be found.31
MalaCards: Huntington's Disease, also known as huntington disease, is related to neuronitis and carcinoma. An important gene associated with Huntington's Disease is HTT (huntingtin), and among its related pathways are Endocrine and other factor-regulated calcium reabsorption and Transcription Ligand-Dependent Transcription of Retinoid-Target genes. The drugs baclofen and coenzyme q10 and the compounds nmda and calcium have been mentioned in the context of this disorder. Affiliated tissues include whole blood, brain and cortex, and related mouse phenotypes are nervous system and mortality/aging. Disease Ontology: A neurodegenerative disease that has material basis in expansion of cag repeats resulting in neuron degeneration affecting muscle coordination, cognitive abilities.6 NIH Rare Diseases: Huntington disease is a progressive disorder that causes brain cell (neuron) degeneration in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances. Symptoms typically appear between the ages of 35 and 44 years. People with Huntington disease most often live for 15 to 18 years after the condition appears. Huntington disease caused by mutations in the HTT gene and is inherited in an autosomal dominant manner. Each child of a person with Huntington disease has a 50 percent (1 in 2) chance of inheriting the mutation. There is also a less common, early-onset from that begins in childhood or adolescence, called juvenile Huntington disease.30 MedlinePlus: Huntington's disease (hd) is an inherited disease that causes certain nerve cells in the brain to waste away. people are born with the defective gene, but symptoms usually don't appear until middle age. early symptoms of hd may include uncontrolled movements, clumsiness or balance problems. later, hd can take away the ability to walk, talk or swallow. some people stop recognizing family members. others are aware of their environment and are able to express emotions. if one of your parents has huntington's disease, you have a 50-50 chance of getting it. a blood test can tell if you have the hd gene and will develop the disease. genetic counseling can help you weigh the risks and benefits of taking the test. there is no cure. medicines can help manage some of the symptoms, but cannot slow down or stop the disease. nih: national institute of neurological disorders and stroke23 Genetics Home Reference: Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).17 Wikipedia: Huntington's disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and...44 more... OMIM: 143100 GeneReviews summary for huntington |
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Sources: 6Disease Ontology, 44Wikipedia, 30NIH Rare Diseases, 17Genetics Home Reference, 31NINDS, 23MedlinePlus, 16GeneTests, 7diseasecard, 15GeneReviews, 33OMIM, 32Novoseek , 43UMLS, 8DISEASES, 19ICD9CM, 24MeSH, 27NCIt, 40SNOMED-CT See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 143100
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 21LifeMap Discovery™, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for huntington's disease Drug clinical trials:Search ClinicalTrials for huntington's disease Search NIH Clinical Center for huntington's disease Search CenterWatch for huntington's disease Inferred drug relations via UMLS/NDF-RT:43 28 baclofen, coenzyme q10, perphenazine, pimozideCell-based therapeutics:![]() The database of embryonic development, stem cell research and regenerative medicine Stem-Cell-Based therapeutic approaches for huntington's disease:
Embryonic/Adult Cultured Cells Related to huntington's disease:
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Sources: 16GeneTests See all sources |
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Sources: 21LifeMap Discovery™, 22MalaCards See all sources |
MalaCards organs/tissues related to huntington's disease:22Whole blood, Brain, Cortex, Skin, Nk cells, T cells, B lymphoblasts, B cells, Fetal brain, Prefrontal cortex, Globus pallidus, Caudate nucleus, Pons ![]() The database of embryonic development, stem cell research and regenerative medicine Embryonic and adult cells/anatomical compartments related to huntington's disease:
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to huntington's disease:25 (show all 28)
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Sources: 35PubMed See all sources |
Articles related to huntington's disease:(show top 50) (show all 597)
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Sources: 1BioGPS See all sources |
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Sources: 20KEGG, 10EMD Millipore, 36QIAGEN, 41Thomson Reuters, 3Cell Signaling Technology See all sources |
Pathways related to huntington's disease according to GeneDecks:(show top 50) (show all 510)
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Sources: 32Novoseek , 42Tocris Bioscience, 9DrugBank, 18HMDB, 34PharmGKB See all sources |
Compounds related to huntington's disease according to GeneDecks:(show top 50) (show all 430)
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Sources: 12Gene Ontology See all sources |
Cellular components related to huntington's disease according to GeneDecks:(show all 41)
Biological processes related to huntington's disease according to GeneDecks:(show top 50) (show all 119)
Molecular functions related to huntington's disease according to GeneDecks:(show all 40)
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