Details of Disease | DrugMAP

General Information of Disease (ID: DISLITFQ)

Disease Name	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Synonyms	MPPH2; megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2; AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3; megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Definition	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.
Disease Hierarchy	DISWVM8Y: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome DISLITFQ: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Disease Identifiers	MONDO ID MONDO_0014407 UMLS CUI C4014738 OMIM ID 615937 MedGen ID 863175

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
AKT3	TTAZ05C	Strong	Autosomal dominant	[1]
AKT3	TTO6SGY	Strong	CausalMutation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AKT3	OT5M2LFI	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.
2	De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May;46(5):510-515. doi: 10.1038/ng.2948. Epub 2014 Apr 6.