Details of Disease | DrugMAP

General Information of Disease (ID: DISP3DLV)

Disease Name	Pontocerebellar hypoplasia, type 12
Synonyms	PONTOCEREBELLAR HYPOPLASIA, TYPE 12; COASY-related pontocerebellar hypoplasia; PCH12
Disease Hierarchy	DISRICMU: Pontocerebellar hypoplasia DISP3DLV: Pontocerebellar hypoplasia, type 12
Disease Identifiers	MONDO ID MONDO_0032643 UMLS CUI C4748873 OMIM ID 618266 MedGen ID 1648343 Orphanet ID 611256

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COASY	TT4YO0Z	Strong	Autosomal recessive	[1]
COASY	TT4YO0Z	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

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

1	Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. Eur J Hum Genet. 2018 Dec;26(12):1752-1758. doi: 10.1038/s41431-018-0233-0. Epub 2018 Aug 8.