Huntington Disease malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 34LifeMap Discovery®, 36MedGen, 37MedlinePlus, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
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Aliases & Descriptions for Huntington Disease:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: any age
juvenile huntington disease:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe); Age of onset: Adolescent,Childhood
Inheritance: autosomal dominant inheritance
Penetrance: alleles that contain more than 35 cag repeats are considered hd-causing alleles and confer risk of developing the disease...
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Nephrological diseases
ICD10: 30 29
Rare neurological diseases
MedlinePlus:37 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 huntington disease-like 2 and huntington disease-like 1, 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 are Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics and Amphetamine addiction. The drugs perphenazine and coenzyme q10 have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and testes, and related mouse phenotypes are muscle and respiratory system.
Disease Ontology:11 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:25 Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).
NIH Rare Diseases:47 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:51 Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype... (143100) more...
NINDS:48 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:69 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:70 Huntington\'s disease (HD), also known as Huntington\'s chorea, is an inherited disorder that results in... more...
Description from OMIM:51 143400
GeneReviews for NBK1305
Human phenotypes related to Huntington Disease:63 53 (show all 18)
UMLS symptoms related to Huntington Disease:athetosis, back pain, headache, myoclonus, pain, sciatica, seizures, syncope, tremor, chronic pain, bradykinesia, hyperexplexia, personality change, vertigo/dizziness, sleeplessness, tremor nec in icd9cm_2014
Drugs for Huntington Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 741)
Interventional clinical trials:(show top 50) (show all 1033)
Search NIH Clinical Center for Huntington Disease
Inferred drug relations via UMLS67/NDF-RT45:
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:35
Brain, Lung, Testes, Kidney, Prostate, Bone, Heart
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:40 (show all 16)
Articles related to Huntington Disease:(show top 50) (show all 320)
UniProtKB/Swiss-Prot genetic disease variations for Huntington Disease:69
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:33
Pathways related to Huntington Disease according to GeneCards Suite gene sharing:(show all 14)
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 12)
Molecular functions related to Huntington Disease according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet