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 |
|---|---|---|---|---|---|---|
| MTMR10 | MTMR10 | Expressivity | Altered onset time | From review article | Associated with age at disease onsetmore | more |
| MT-CO1 | MT-CO1:c.7028C>T | Expressivity | Altered onset time | P=0.027 | 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 |
| JPH3 | JPH3:CTGrepeat | 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 |
| ISPD | ISPD:n.16495406T>C | Expressivity | Altered onset time | P=2.2×10(-8) | rs12668183 is associated with a -2.8 year effect size per minor allele in Venezuelan HD, but no effect in European HD subjectsmore | more |
| ISPD:n.16495406T>C | Expressivity | Altered onset time | P=2.2×10(-8) | The accelerated onset of HD caused by this modifier locus is due to reduced levels of SOSTDC1.more | more | |
| IL1R1 | IL1R1:p.Asn171-82Gln | Penetrance | Altered incidence | Study on animal models | Its basal function and protective effects may be important for preventing the neuropathology seen in HD.more | more |
| HERC2P10 | HERC2P10 | Expressivity | Altered onset time | From review article | Associated with age at disease onsetmore | more |
| Haplotype | Haplotype:(NRF-1:rs6949152,CO1:C7028T) | Expressivity | Altered onset time | P<0.0001 | With the addition of each SNP-SNP interaction, along with each SNP's respective main effect, the variability in adjusted log motor AO increasedmore | more |
| Haplotype:(NRF-1:rs7781972,TFAM:rs1100613) | Expressivity | Altered onset time | P<0.003 | With the addition of each SNP-SNP interaction, along with each SNP's respective main effect, the variability in adjusted log motor AO increasedmore | more | |
| GRIN2B | GRIN2B:c.*409T>G | 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 |