Details of Disease

General Information of Disease (ID: DIS3KNNO)

Disease Name Spinocerebellar ataxia type 37
Synonyms spinocerebellar ataxia 37; spinocerebellar ataxia with altered vertical eye movements; SCA37
Definition Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.
Disease Hierarchy
DIS947AF: Autosomal dominant cerebellar ataxia type I
DIS3KNNO: Spinocerebellar ataxia type 37
Disease Identifiers
MONDO ID
MONDO_0014410
UMLS CUI
C3889636
OMIM ID
615945
MedGen ID
855217
Orphanet ID
363710
SNOMED CT ID
719301002

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
DAB1 OTPL9MA3 Supportive Autosomal dominant [1]
DNAAF3 OT3OHO0O Definitive Genetic Variation [2]
OMA1 OT0JRVY7 Definitive Genetic Variation [2]
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References

1 A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. Am J Hum Genet. 2017 Jul 6;101(1):87-103. doi: 10.1016/j.ajhg.2017.06.007.
2 Mutational mechanism for DAB1 (ATTTC)(n) insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution.Hum Mutat. 2019 Apr;40(4):404-412. doi: 10.1002/humu.23704. Epub 2019 Jan 9.