Details of Disease

General Information of Disease (ID: DISHC8YI)

Disease Name Pontocerebellar hypoplasia type 2C
Synonyms pontocerebellar hypoplasia, type 2C; PCH2C; TSEN34 non-syndromic pontocerebellar hypoplasia; non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34
Definition Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.
Disease Hierarchy
DISXV76G: Pontocerebellar hypoplasia type 2
DISRICMU: Pontocerebellar hypoplasia
DISHC8YI: Pontocerebellar hypoplasia type 2C
Disease Identifiers
MONDO ID
MONDO_0012891
MESH ID
C567324
UMLS CUI
C2676465
OMIM ID
612390
MedGen ID
382856

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
TSEN34 OTH5FQHP Strong Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.