Details of Disease

General Information of Disease (ID: DISP7IPL)

Disease Name Spinocerebellar ataxia type 36
Synonyms spinocerebellar ataxia 36; SCA36; spinocerebellar ataxia type 36; Asidan
Definition
Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.
Disease Hierarchy
DIS947AF: Autosomal dominant cerebellar ataxia type I
DISP7IPL: Spinocerebellar ataxia type 36
Disease Identifiers
MONDO ID
MONDO_0013594
UMLS CUI
C3472711
OMIM ID
614153
MedGen ID
483339
Orphanet ID
276198
SNOMED CT ID
711158005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATXN10 OTKRDUNN Strong Genetic Variation [1]
SUPT4H1 OTB3UCTB Strong Biomarker [2]
NOP56 OTT67SRZ Definitive Autosomal dominant [3]
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References

1 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.Brain. 2012 May;135(Pt 5):1423-35. doi: 10.1093/brain/aws069. Epub 2012 Apr 3.
2 Suppression of the yeast elongation factor Spt4 ortholog reduces expanded SCA36 GGCCUG repeat aggregation and cytotoxicity.Brain Res. 2019 May 15;1711:29-40. doi: 10.1016/j.brainres.2018.12.045. Epub 2019 Jan 2.
3 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.