General Information of Disease (ID: DISWPQUM)

Disease Name Pontocerebellar hypoplasia, type 13
Synonyms PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
Disease Hierarchy
DISRICMU: Pontocerebellar hypoplasia
DISWPQUM: Pontocerebellar hypoplasia, type 13
Disease Identifiers
MONDO ID
MONDO_0032831
UMLS CUI
C5231425
OMIM ID
618606
MedGen ID
1684708
Orphanet ID
613267

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VPS51 OT2M01JL Moderate Autosomal recessive [1]
VPS53 OTJUZSO1 Strong Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes. Hum Mol Genet. 2019 May 1;28(9):1548-1560. doi: 10.1093/hmg/ddy423.
2 HCCS1 overexpression induces apoptosis via cathepsin D and intracellular calcium, and HCCS1 disruption in mice causes placental abnormality. Cell Death Differ. 2008 Sep;15(9):1481-90. doi: 10.1038/cdd.2008.73. Epub 2008 May 30.