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 |
|---|---|---|---|---|---|---|
| NRF1 | NRF1:c.90C>T(p.Asp30Asp) | 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.-9-10747A>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.-9-13485A>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.-9-16675G>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.-9-6624G>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.-9-9073T>C | 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.-9-9562T>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 | |
| NONE | NONE:rs146353869 | Expressivity | Altered putamen volume | Statistically reliable that the 95% ci did not contain 0 | Associated with a lower putamen volumemore | more |
| NCOR1 | NCOR1:c.6537-747A>G | Expressivity | Altered GM volume | P=2.38×10(-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 |
| MTMR10 | MTMR10:rs2140734 | Expressivity | Altered onset time | Statistically reliable that the 95% ci did not contain 0 | The minor allele of rs2140734, is associated with a delay in onsetmore | more |