Huntington Disease malady
Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases categories
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 32LifeMap Discovery®, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 68Wikipedia, 22GeneTests, 46NINDS, 12DISEASES, 35MedlinePlus, 24GTR, 29ICD9CM, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
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Aliases & Descriptions for Huntington Disease:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Nephrological diseases
ICD10: 28 27
Rare neurological diseases
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: any age
NINDS:46 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.
MalaCards based summary: Huntington Disease, also known as huntington's disease, is related to spinocerebellar ataxia 17 and parkinson disease, late-onset, and has symptoms including behavioral abnormality, hypertonia and abnormality of the voice. An important gene associated with Huntington Disease is HTT (Huntingtin), and among its related pathways is Neuroscience. The drugs perphenazine and coenzyme q10 have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and kidney, and related mouse phenotypes are reproductive system and growth/size/body.
Disease Ontology:10 A neurodegenerative disease and an autosomal dominant disease that is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has material basis in expansion of cag triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
Genetics Home Reference:23 Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).
NIH Rare Diseases:45 Huntington disease (hd) is an inherited condition that causes progressive degeneration of neurons in the brain. signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. people with hd usually live for about 15 to 20 years after the condition begins. it is caused by changes (mutations) in the htt gene and is inherited in an autosomal dominant manner. treatment is based on the symptoms present in each person and may include various medications. there is also a less common, early-onset form of hd which begins in childhood or adolescence. for more information on this form, please visit gard's juvenile huntington disease web page. last updated: 7/8/2015
OMIM:49 Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype... (143100) more...
MedlinePlus:35 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, and balance problems. later, hd can take away the ability to walk, talk, and 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 percent chance of getting it. a blood test can tell you if 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 stroke
UniProtKB/Swiss-Prot:67 Huntington disease: A neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen.
Wikipedia:68 Huntington\'s disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and... more...
GeneReviews summary for huntington
Symptoms by clinical synopsis from OMIM:143100
Clinical features from OMIM:143100
Symptoms:51 (show all 8)
HPO human phenotypes related to Huntington Disease:(show all 18)
Drugs for Huntington Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 458)
Interventional clinical trials:(show top 50) (show all 902)
Search NIH Clinical Center for Huntington Disease
Inferred drug relations via UMLS65/NDF-RT43:
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Huntington Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Huntington Disease:
Embryonic/Adult Cultured Cells Related to Huntington Disease:
MalaCards organs/tissues related to Huntington Disease:33
Brain, Testes, Kidney, Heart, Cortex, Eye, Prefrontal cortex
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Huntington Disease:
MGI Mouse Phenotypes related to Huntington Disease:38
Articles related to Huntington Disease:(show top 50) (show all 252)
Clinvar genetic disease variations for Huntington Disease:5
Search GEO for disease gene expression data for Huntington Disease.
Cellular components related to Huntington Disease according to GeneCards Suite gene sharing:
Biological processes related to Huntington Disease according to GeneCards Suite gene sharing:(show all 10)
Molecular functions related to Huntington Disease according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet