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 |
---|---|---|---|---|---|---|
UCHL1 | UCHL1:c.53C>A(p.Ser18Tyr) | Expressivity | Altered onset time | Gene activity study | The UCH-L1 gene may be a genetic factor that influences the variability in age-at-onset of HD.more | more |
UBR5 | UBR5 | Expressivity | Altered onset time | From review article | Associated with age at disease onsetmore | more |
TFAM | TFAM:rs1049432 | Expressivity | Altered onset time | P=0.042 | When combining these results with the previously described modifiers rs7665116 in PPARGC1A and C7028T in the cytochrome c oxidase subunit I (CO1, mt haplogroup H) in a multivariable model, a substantial proportion of the variation in AO can be explained by the joint effect of significant modifiers and their interactions,more | more |
TCERG1 | TCERG1:(Gln-Ala)38repeat | Expressivity | Altered onset time | Study on mouse strains | The (Gln-Ala)38 repeat is required for the nuclear restriction of exogenous CA150, suggesting that rescue requires nuclear CA150.more | more |
TCERG1:(Gln-Ala)38repeat | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Polymorphisms in the genes affect the age at onset of Huntington disease in Tunisian patientsmore | more | |
TBP | TBP:CAGrepeat | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | Polymorphisms in the genes affect the age at onset of Huntington disease in Tunisian patientsmore | more |
RRM2B | RRM2B:rs1037699 | Expressivity | Altered putamen volume | Statistically reliable that the 95% ci did not contain 0 | Associated with a higher putamen volumemore | more |
RRM2B | Expressivity | Altered onset time | From review article | Associated with age at disease onsetmore | more | |
PTGS1 | PTGS1:c.7028C>T | Expressivity | Risk factor | P<0.05 | When combining these results with the previously described modifiers rs7665116 in PPARGC1A and C7028T in the cytochrome c oxidase subunit I (CO1, mt haplogroup H) in a multivariable model, a substantial proportion of the variation in AO can be explained by the joint effect of significant modifiers and their interactions,more | more |
PPARGC1A | PPARGC1A:c.1835C>T(p.Thr612Met) | Expressivity | Altered onset time | P=0.0164 | A coding variant (rs3736265) in PPARGC1A is associated with an earlier motor AO in men but not women carrying the HD mutation.more | more |