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GENE - TERM ANNOTATION REPORT

CRRD ID: 8895901
Species: Chinchilla lanigera
CRRD Object: Gene
Symbol: Map3k5
Name: mitogen-activated protein kinase kinase kinase 5
Acc ID: DOID:12858
Term: Huntington's disease
Definition: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)
Definition Source(s): MESH:D006816, http://en.wikipedia.org/wiki/Huntington_disease, http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:118595689068941CRRDprotein:increased expression:cortex, striatum, nucleus:

PMID:19646509, REF_RGD_ID:10412311
onsetISSRGD:118595689068941CRRDDNa:SNO:promoter:rs5880308(human)

PMID:18327563, REF_RGD_ID:10412314
treatmentISSRGD:118595689068941CRRD PMID:19646509, REF_RGD_ID:10412311
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.