Huntington Disease malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 32LifeMap Discovery®, 65UMLS, 68Wikipedia, 46NINDS, 12DISEASES, 35MedlinePlus, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Huntington Disease:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: any age
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Nephrological diseases
ICD10: 28 27
Rare neurological diseases
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
MalaCards based summary: Huntington Disease, also known as huntington's disease, is related to juvenile huntington disease and huntington disease-like 2, and has symptoms including abnormality of movement, developmental regression and eeg abnormality. An important gene associated with Huntington Disease is HTT (Huntingtin). The drugs baclofen and coenzyme q10 have been mentioned in the context of this disorder. Affiliated tissues include brain, breast and lung, and related mouse phenotypes are reproductive system and behavior/neurological.
Disease Ontology:10 A neurodegenerative disease that has material basis in autosomal dominant inheritance and 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...
NINDS:46 Huntington's disease (HD) is an inherited disorder that causes degeneration of brain cells, called neurons, in motor control regions of the brain, as well as other areas. Symptoms of the disease, which gets progressively worse, include uncontrolled movements (called chorea), abnormal body postures, and changes in behavior, emotion, judgment, and cognition. People with HD also develop impaired coordination, slurred speech, and difficulty feeding and swallowing. HD typically begins between ages 30 and 50. An earlier onset form called juvenile HD, occurs under age 20.
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 NBK1305
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 17)
UMLS symptoms related to Huntington Disease:tremor nec in icd9cm_2014, sleeplessness, vertigo/dizziness, personality change, hyperexplexia, bradykinesia, chronic pain, tremor, syncope, seizures, sciatica, pain, myoclonus, headache, back pain, athetosis
Drugs for Huntington Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 668)
Interventional clinical trials:(show top 50) (show all 925)
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, Breast, Lung, Testes, Prostate, Heart, Kidney
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 280)
Clinvar genetic disease variations for Huntington Disease:5
Search GEO for disease gene expression data for Huntington Disease.
Pathways related to Huntington Disease according to KEGG:31
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet