Details of Disease

General Information of Disease (ID: DISIBRCT)

Disease Name Dystonia 25
Synonyms DYT25; autosomal dominant focal dystonia, DYT25 type; dystonic disorder caused by mutation in GNAL; GNAL dystonic disorder; dystonia 25; dystonia type 25
Definition Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.
Disease Hierarchy
DISTS9MR: Multifocal dystonia
DISEIJV9: Inherited dystonia
DISICOLI: Focal, segmental or multifocal dystonia
DISIBRCT: Dystonia 25
Disease Identifiers
MONDO ID
MONDO_0014033
UMLS CUI
C4304670
OMIM ID
615073
MedGen ID
930339
Orphanet ID
329466
SNOMED CT ID
719516000

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
GNAL OTESDTEU Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.