Details of Disease

General Information of Disease (ID: DIS9BC64)

Disease Name Spinocerebellar ataxia, autosomal recessive 29
Synonyms SCAR29; Barakat-Van Ham-Kaya syndrome; neurodevelopmental disorder with hypotonia and cerebellar ataxia; spinocerebellar ataxia, autosomal recessive 29
Disease Hierarchy
DISWBOUC: Autosomal recessive cerebellar ataxia
DIS9BC64: Spinocerebellar ataxia, autosomal recessive 29
Disease Identifiers
MONDO ID
MONDO_0030312
UMLS CUI
C5543595
OMIM ID
619389
MedGen ID
1788435

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
VPS41 OTJGJ6QN Limited Unknown [1]
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References

1 Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21.