Details of Disease

General Information of Disease (ID: DISY3Q3K)

Disease Name Dystonia 23
Synonyms adult-onset cervical dystonia, DYT23 type; dystonia type 23; CACNA1B dystonic disorder; dystonic disorder caused by mutation in CACNA1B; DYT23; dystonia 23
Definition Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.
Disease Hierarchy
DISEIJV9: Inherited dystonia
DISICOLI: Focal, segmental or multifocal dystonia
DIS26D7O: Focal dystonia
DISY3Q3K: Dystonia 23
Disease Identifiers
MONDO ID
MONDO_0013928
UMLS CUI
C3538999
OMIM ID
614860
MedGen ID
761274
Orphanet ID
420492
SNOMED CT ID
783242003

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
CIZ1 OT3UKHPI Moderate Unknown [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.