Details of Disease

General Information of Disease (ID: DISCS85P)

Disease Name Developmental malformations-deafness-dystonia syndrome
Synonyms dystonia, juvenile-onset; DJO; juvenile-onset dystonia
Definition Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.
Disease Hierarchy
DISEIJV9: Inherited dystonia
DIS2BIP8: Congenital nervous system disorder
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DISCS85P: Developmental malformations-deafness-dystonia syndrome
Disease Identifiers
MONDO ID
MONDO_0011823
MESH ID
C537704
UMLS CUI
C1846331
OMIM ID
607371
MedGen ID
339494
Orphanet ID
79107

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
ACTB OT1MCP2F 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.