Disorder "Prader-Willi syndrome"
Found 1 record
Disorder information
Disorder name:
Prader-Willi syndrome
Disoder ID:
OMIM entry:
Synonyms:
Willi-Prader syndrome, Prader Willi syndrome, Prader-Willi syndrome, Prader-Willi-Labhart syndrome, Prader-Labhart-Willi syndrome
Definition:
A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SNURF | SNURF:rs186748238 | Expressivity | Risk factor | Gene activity study | A possibly inactivating mutation in the SNRPN minimal promoter region was identified. PWS may result from a stochastic partial inactivation of important genes.more | more |
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