Disorder "Huntington's Disease"
Found 52 records
Disorder information
Disorder name:
Huntington's Disease
Disoder ID:
OMIM entry:
Synonyms:
Huntington's chorea, Huntington disease, HD
Definition:
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Modifier statisitcs
Record:
52
Gene:
27
Variant:
48
Reference:
13
Effect type:
Expressivity(51)
,Penetrance(1)
Modifier effect:
Altered onset time(27)
,Risk factor(20)
,Altered GM volume(2)
,Altered putamen volume(2)
,Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ATG7 | ATG7:p.Val471Ala | Expressivity | Altered onset time | P=0.0238 | We identified a significant effect of the ATG7 V471A polymorphism on the HD age at onset only in the Italian populationmore | more |
| ADORA2B | ADORA2B:rs71358386 | Expressivity | Altered GM volume | P=1.51×10(-5) | Two single-nucleotide polymorphisms (SNPs: rs71358386 in NCOR1 and rs71358386 in ADORA2B) in the HD pathway were significantly associated with GM volume in the cuneus component, with minor alleles being linked to reduced GM volume.more | more |