Details of Disease | DrugMAP

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]
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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.