Details of Disease

General Information of Disease (ID: DISXC1FU)

Disease Name Spinocerebellar ataxia 47
Synonyms SCA47; spinocerebellar ataxia 47; PUM1-related cerebellar ataxia
Definition
A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.
Disease Hierarchy
DISYMHUK: Spinocerebellar ataxia
DISXC1FU: Spinocerebellar ataxia 47
Disease Identifiers
MONDO ID
MONDO_0033482
UMLS CUI
C4693672
OMIM ID
617931
MedGen ID
1636349
SNOMED CT ID
1260097007

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
PUM1 OTTMWP8L Moderate Autosomal dominant [1]
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References

1 PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. Am J Med Genet A. 2020 Mar;182(3):591-594. doi: 10.1002/ajmg.a.61463. Epub 2019 Dec 20.