Details of Disease

General Information of Disease (ID: DIS4IYFY)

Disease Name Dystonia 24
Synonyms cranio-cervical dystonia with laryngeal and upper-limb involvement; dystonic disorder caused by mutation in ANO3; DYT24; dystonia type 24; DYT-ANO3; dystonia 24; ANO3 dystonic disorder
Definition Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.|Editor note: DO classifies as purely focal
Disease Hierarchy
DISEIJV9: Inherited dystonia
DISICOLI: Focal, segmental or multifocal dystonia
DIS4IYFY: Dystonia 24
Disease Identifiers
MONDO ID
MONDO_0014019
UMLS CUI
C3554374
OMIM ID
615034
MedGen ID
767288
Orphanet ID
420485
SNOMED CT ID
783179009

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
ANO3 OTM34U6Q 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.