Details of Disease

General Information of Disease (ID: DISRTJAA)

Disease Name Pontocerebellar hypoplasia type 2E
Synonyms PCH2E; pontocerebellar hypoplasia, type 2E; pontocerebellar hypoplasia type 2E; VPS53 non-syndromic pontocerebellar hypoplasia; non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53
Definition Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.
Disease Hierarchy
DISRICMU: Pontocerebellar hypoplasia
DISRTJAA: Pontocerebellar hypoplasia type 2E
Disease Identifiers
MONDO ID
MONDO_0014370
UMLS CUI
C4014488
OMIM ID
615851
MedGen ID
862925

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
VPS53 OTJUZSO1 Strong Autosomal recessive [1]
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References

1 VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). J Med Genet. 2014 May;51(5):303-8. doi: 10.1136/jmedgenet-2013-101823. Epub 2014 Feb 27.