Details of Disease | DrugMAP

General Information of Disease (ID: DIS94HL6)

Disease Name	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Synonyms	MPPH3; megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3; megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3; megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2; CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Definition	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.
Disease Hierarchy	DISWVM8Y: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome DIS94HL6: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Disease Identifiers	MONDO ID MONDO_0014408 UMLS CUI C4014742 OMIM ID 615938 MedGen ID 863179

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
CCND2	OTDULQF9	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.