Details of Disease

General Information of Disease (ID: DIS6NPU1)

Disease Name Dystonia 30
Synonyms DYT30
Disease Hierarchy
DISEIJV9: Inherited dystonia
DIS6NPU1: Dystonia 30
Disease Identifiers
MONDO ID
MONDO_0025691
UMLS CUI
C5543312
OMIM ID
619291
MedGen ID
1785079

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VPS16 OTLWUS3T Strong Autosomal dominant [1]
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References

1 Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia. Sci Rep. 2016 May 12;6:25834. doi: 10.1038/srep25834.