Details of Disease | DrugMAP

General Information of Disease (ID: DISQNDTP)

Disease Name	Pontocerebellar hypoplasia, type 16
Synonyms	PCH16
Disease Hierarchy	DISRICMU: Pontocerebellar hypoplasia DISQNDTP: Pontocerebellar hypoplasia, type 16
Disease Identifiers	MONDO ID MONDO_0030438 UMLS CUI C5561987 OMIM ID 619527 MedGen ID 1794197

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MINPP1	DE5Q1SP	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MINPP1	OTNYPPCC	Strong	Autosomal recessive	[1]
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References

1	MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia. Nat Commun. 2020 Nov 30;11(1):6087. doi: 10.1038/s41467-020-19919-y.