Details of Disease

General Information of Disease (ID: DISAXT72)

Disease Name Spinocerebellar ataxia type 23
Synonyms spinocerebellar ataxia 23; spinocerebellar ataxia type 23; SCA23
Definition
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
Disease Hierarchy
DIS947AF: Autosomal dominant cerebellar ataxia type I
DISAXT72: Spinocerebellar ataxia type 23
Disease Identifiers
MONDO ID
MONDO_0012449
MESH ID
C537201
UMLS CUI
C1853250
OMIM ID
610245
MedGen ID
339942
Orphanet ID
101108
SNOMED CT ID
718772002

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
PDYN OTEJ6430 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. Am J Hum Genet. 2010 Nov 12;87(5):593-603. doi: 10.1016/j.ajhg.2010.10.001. Epub 2010 Oct 28.