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 |
|---|---|---|---|---|---|---|
| GRIN2B | GRIN2B:c.2664C>T(p.Thr888Thr) | Expressivity | Risk factor | P=0.028 | These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD.more | more |
| GRIN2A | GRIN2A:c.415-84729C>T | 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 |
| GRIN2A:c.415-84729C>T | Expressivity | Risk factor | P=0.046 | These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD.more | more | |
| FAN1 | FAN1:c.1520G>A(p.Arg507His) | Expressivity | Risk factor | P<10(-20) | A predicted deleterious missense alteration in FAN1 that is likely to be the functional variant responsible for modificationmore | more |
| FAN1 | Expressivity | Altered onset time | From review article | Associated with age at disease onsetmore | more | |
| DMPK | DMPK: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 |
| CNR1 | CNR1:c.*1824C>T | Expressivity | Altered onset time | P<0.05 | CNR1 variation may have modifying effects on the AO in HD.more | more |
| CNR1:repeat(AAT)n ≥ 17 | Expressivity | Altered onset time | P=0.007 | CNR1 variation may have modifying effects on the AO in HD.more | more | |
| ATXN1 | ATXN1: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 |
| ATN1 | ATN1: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 |