Dentatorubral-Pallidoluysian Atrophy (NOD) malady
Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories
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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 65Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Dentatorubral-pallidoluysian atrophy (drpla) is a progressive brain disorder that causes involuntary movements; mental and emotional problems; and a decline in thinking ability. the average age of onset of drpla is 30 years, but the condition can appear anytime from infancy to mid-adulthood. specific signs and symptoms may differ among affected individuals and sometimes affects children and adults differently. drpla is caused by aÂ mutation in the atn1 gene and is inherited in an autosomal dominant manner. treatment is symptomatic and supportive. last updated: 9/5/2012
MalaCards based summary: Dentatorubral-Pallidoluysian Atrophy, also known as drpla, is related to machado-joseph disease and huntington's disease, and has symptoms including An important gene associated with Dentatorubral-Pallidoluysian Atrophy is ATN1 (atrophin 1), and among its related pathways is beta-catenin independent WNT signaling. The compounds methamphetamine and levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and cerebellum.
Disease Ontology:8 A spinocerebellar degeneration that has material basis in expansion of cag triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
Genetics Home Reference:21 Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.
Wikipedia:65 Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration... more...
Description from OMIM:46 125370
GeneReviews summary for drpla
Dentatorubral-Pallidoluysian Atrophy, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases
Rare neurological diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Variable
HPO human phenotypes related to Dentatorubral-Pallidoluysian Atrophy:(show all 12)
MalaCards organs/tissues related to Dentatorubral-Pallidoluysian Atrophy:32
Brain, Cortex, Cerebellum, Testes, Endothelial
Articles related to Dentatorubral-Pallidoluysian Atrophy:(show top 50) (show all 127)
Search GEO for disease gene expression data for Dentatorubral-Pallidoluysian Atrophy.
Compounds related to Dentatorubral-Pallidoluysian Atrophy according to GeneCards/GeneDecks:
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet