Details of Disease

General Information of Disease (ID: DIS78MR0)

Disease Name Torsion dystonia 4
Synonyms
dystonia musculorum deformans 4; whispering dysphonia, hereditary; dystonia 4, torsion, autosomal dominant; autosomal dominant torsion dystonia-4; primary dystonia, DYT4 type; whispering dysphonia; torsion dystonia type 4; hereditary whispering dysphonia; DYT4
Definition DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
Disease Hierarchy
DISICOLI: Focal, segmental or multifocal dystonia
DIS78MR0: Torsion dystonia 4
Disease Identifiers
MONDO ID
MONDO_0007493
MESH ID
C538004
UMLS CUI
C1851943
OMIM ID
128101
MedGen ID
342124
Orphanet ID
98805

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
TUBB4A OT6SQEO5 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.