Disorder "Autosomal Dominant Torsion Dystonia 1"
Found 1 record
Disorder information
Disorder name:
Autosomal Dominant Torsion Dystonia 1
Disoder ID:
Synonyms:
Autosomal Dominant Torsion Dystonia 1, DYT1
Definition:
An autosomal dominant inherited disorder caused by mutations in the TOR1A gene. It usually begins in childhood or adolescence and is characterized by involuntary muscle contractions in the arms, legs, trunk, and neck.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TOR1A | TOR1A:rs1801968 | Expressivity | Altered severity | P=0.001 | The polymorphism is associated with the disease severitymore | more |
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