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
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