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 |
|---|---|---|---|---|---|---|
| PPARGC1A | PPARGC1A:c.235-19637A>G | Expressivity | Risk factor | P=0.012 | 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:c.235-19637A>G | Expressivity | Altered onset time | P<0.007 | 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 | |
| NRF1 | NRF1:c.-10+5909G>A | Expressivity | Risk factor | P<0.05 | Polymorphisms in the nuclear respiratory factor 1 gene, NRF-1, and the mitochondrial transcription factor A, encoded by TFAM showed nominally significant association with AO of HD.more | more |
| NRF1:c.-10+8078C>T | Expressivity | Risk factor | P<0.05 | Polymorphisms in the nuclear respiratory factor 1 gene, NRF-1, and the mitochondrial transcription factor A, encoded by TFAM showed nominally significant association with AO of HD.more | more | |
| NRF1:c.-10+8127T>A | Expressivity | Risk factor | P<0.05 | Polymorphisms in the nuclear respiratory factor 1 gene, NRF-1, and the mitochondrial transcription factor A, encoded by TFAM showed nominally significant association with AO of HD.more | more | |
| NRF1:c.1065+304G>A | Expressivity | Risk factor | P<0.05 | Polymorphisms in the nuclear respiratory factor 1 gene, NRF-1, and the mitochondrial transcription factor A, encoded by TFAM showed nominally significant association with AO of HD.more | more | |
| NRF1:c.1349-2857C>G | Expressivity | Risk factor | P<0.05 | Polymorphisms in the nuclear respiratory factor 1 gene, NRF-1, and the mitochondrial transcription factor A, encoded by TFAM showed nominally significant association with AO of HD.more | more | |
| NRF1:c.1349-4212C>T | Expressivity | Risk factor | P<0.05 | Polymorphisms in the nuclear respiratory factor 1 gene, NRF-1, and the mitochondrial transcription factor A, encoded by TFAM showed nominally significant association with AO of HD.more | more | |
| NRF1:c.1406-1517A>G | Expressivity | Risk factor | P<0.05 | Polymorphisms in the nuclear respiratory factor 1 gene, NRF-1, and the mitochondrial transcription factor A, encoded by TFAM showed nominally significant association with AO of HD.more | more | |
| NRF1:c.141T>G(p.Ser47Ser) | Expressivity | Risk factor | P<0.05 | Polymorphisms in the nuclear respiratory factor 1 gene, NRF-1, and the mitochondrial transcription factor A, encoded by TFAM showed nominally significant association with AO of HD.more | more |