Details of Disease

General Information of Disease (ID: DIS6NFPX)

Disease Name Spinocerebellar ataxia type 25
Synonyms spinocerebellar ataxia 25; SCA25
Definition Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.
Disease Hierarchy
DIS947AF: Autosomal dominant cerebellar ataxia type I
DIS6NFPX: Spinocerebellar ataxia type 25
Disease Identifiers
MONDO ID
MONDO_0012103
MESH ID
C537202
UMLS CUI
C1837518
OMIM ID
608703
MedGen ID
373347
Orphanet ID
101111
SNOMED CT ID
718770005

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
PNPT1 OTBR2Q0F 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.