Details of Disease

General Information of Disease (ID: DISEIJV9)

Disease Name Inherited dystonia
Synonyms familial dystonia; rare genetic dystonia; rare genetic dystonic disorder; hereditary dystonic disorder
Definition An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISJLFGW: Dystonia
DISEIJV9: Inherited dystonia
Disease Identifiers
MONDO ID
MONDO_0044807
UMLS CUI
C5680022
MedGen ID
1842468
Orphanet ID
391799

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 Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.