Details of Disease

General Information of Disease (ID: DIS2XQ03)

Disease Name Pontocerebellar hypoplasia, type 14
Synonyms pontocerebellar hypoplasia, type 14; PCH14
Disease Hierarchy
DISRICMU: Pontocerebellar hypoplasia
DIS2XQ03: Pontocerebellar hypoplasia, type 14
Disease Identifiers
MONDO ID
MONDO_0030258
UMLS CUI
C5543322
OMIM ID
619301
MedGen ID
1778516
Orphanet ID
613274

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
PPIL1 OTS5S837 Strong Autosomal recessive [1]
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References

1 Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. 2021 Jan 20;109(2):241-256.e9. doi: 10.1016/j.neuron.2020.10.035. Epub 2020 Nov 20.