Details of Disease | DrugMAP

General Information of Disease (ID: DISWVM8Y)

Disease Name	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Synonyms	megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome; megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus; megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome; MPPH syndrome
Definition	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.
Disease Hierarchy	DISWECW7: Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes DISIZUF7: Hydrocephalus DISNK0Q9: Non-syndromic polydactyly DISD715V: Hereditary neurological disease DISWVM8Y: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Disease Identifiers	MONDO ID MONDO_0019375 UMLS CUI C4302893 MedGen ID 928562 Orphanet ID 83473 SNOMED CT ID 722036008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AKT3	TTAZ05C	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AKT3	OT5M2LFI	Supportive	Autosomal dominant	[1]
CCND2	OTDULQF9	Supportive	Autosomal dominant	[2]
PIK3R2	OTZSUQK5	Supportive	Autosomal dominant	[1]
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References

1	De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331.
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.