Details of Disease

General Information of Disease (ID: DISYX3KE)

Disease Name Spinocerebellar ataxia type 40
Synonyms spinocerebellar ataxia 40; spinocerebellar ataxia type 40; SCA40
Definition
Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.
Disease Hierarchy
DIS947AF: Autosomal dominant cerebellar ataxia type I
DISYX3KE: Spinocerebellar ataxia type 40
Disease Identifiers
MONDO ID
MONDO_0014475
UMLS CUI
C4518336
OMIM ID
616053
MedGen ID
1385103
Orphanet ID
423275
SNOMED CT ID
734020000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CCDC8 OTO295IH Limited Autosomal dominant [1]
CCDC88C OTIU02BS Moderate Autosomal dominant [2]
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References

1 A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J Med Genet. 2014 Sep;51(9):590-5. doi: 10.1136/jmedgenet-2014-102333. Epub 2014 Jul 25.
2 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.