Details of Disease

General Information of Disease (ID: DISXK53W)

Disease Name Pontocerebellar hypoplasia, type 2F
Synonyms
pontocerebellar hypoplasia, type 2F; PCH2F; non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15; PCH2F; pontocerebellar hypoplasia, type 2F; TSEN15 non-syndromic pontocerebellar hypoplasia
Definition Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.
Disease Hierarchy
DISXV76G: Pontocerebellar hypoplasia type 2
DISRICMU: Pontocerebellar hypoplasia
DISXK53W: Pontocerebellar hypoplasia, type 2F
Disease Identifiers
MONDO ID
MONDO_0014874
UMLS CUI
C4310757
OMIM ID
617026
MedGen ID
934724

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
TSEN15 OT14UW31 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.