General Information of Disease (ID: DISUPR8L)

Disease Name Spinocerebellar ataxia type 31
Synonyms spinocerebellar ataxia 16q22-linked; spinocerebellar ataxia, 16Q22-linked; spinocerebellar ataxia 31; SCA31; spinocerebellar ataxia type 31
Definition
Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.
Disease Hierarchy
DISQBYEM: Autosomal dominant cerebellar ataxia type III
DISUPR8L: Spinocerebellar ataxia type 31
Disease Identifiers
MONDO ID
MONDO_0007296
MESH ID
C566146
UMLS CUI
C1861736
OMIM ID
117210
MedGen ID
348439
Orphanet ID
217012
SNOMED CT ID
715826005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
TGM6 DEUWCVD Disputed Genetic Variation [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLEKHG4 OT3RBPFL Disputed Biomarker [2]
SACS OTZGXQ8A Disputed Genetic Variation [1]
SETX OTG3JNOQ Disputed Genetic Variation [1]
BEAN1 OT0WLH27 Strong Autosomal dominant [3]
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References

1 Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.Mov Disord. 2012 Mar;27(3):442-6. doi: 10.1002/mds.24064. Epub 2012 Jan 27.
2 Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.Neurogenetics. 2010 Oct;11(4):409-15. doi: 10.1007/s10048-010-0245-6. Epub 2010 Apr 28.
3 Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet. 2009 Nov;85(5):544-57. doi: 10.1016/j.ajhg.2009.09.019. Epub 2009 Oct 29.