Details of Disease

General Information of Disease (ID: DIS06C5U)

Disease Name Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Synonyms
MPPH1; megalencephaly, polymicrogyria, mega corpus callosum syndrome; Meg-PMG-Megacc syndrome; megalencephaly, mega corpus callosum, and complete lack of motor development; megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1; PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1; megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2
Definition Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.
Disease Hierarchy
DISWVM8Y: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
DIS06C5U: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Disease Identifiers
MONDO ID
MONDO_0011313
UMLS CUI
C4012727
OMIM ID
603387
MedGen ID
861164

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 Biomarker [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 Strong Autosomal dominant [1]
CCND2 OTDULQF9 Definitive Autosomal dominant [2]
PIK3R2 OTZSUQK5 Definitive Autosomal dominant [3]
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References

1 Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron. 2012 Apr 12;74(1):41-8. doi: 10.1016/j.neuron.2012.03.010.
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.
3 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.