Details of Disease

General Information of Disease (ID: DISUC2CF)

Disease Name Spinocerebellar ataxia type 38
Synonyms spinocerebellar ataxia 38; spinocerebellar ataxia type 38; SCA38
Definition
Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.
Disease Hierarchy
DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
DISQBYEM: Autosomal dominant cerebellar ataxia type III
DISUC2CF: Spinocerebellar ataxia type 38
Disease Identifiers
MONDO ID
MONDO_0014417
UMLS CUI
C4518337
OMIM ID
615957
MedGen ID
1379865
Orphanet ID
423296
SNOMED CT ID
734021001

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
ELOVL5 OT375W1Z Strong Autosomal dominant [1]
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References

1 Deletion of ELOVL5 leads to fatty liver through activation of SREBP-1c in mice. J Lipid Res. 2009 Mar;50(3):412-423. doi: 10.1194/jlr.M800383-JLR200. Epub 2008 Oct 6.