Preferred Label : Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1;
Symbol : MPPH1;
CISMeF acronym : MPPH; MPPH1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Megalencephaly, mega corpus callosum, and complete lack of motor development; MPPH; Megalencephaly, polymicrogyria, mega corpus callosum syndrome; Meg-pmg-megacc syndrome;
Description : This disorder comprises megalencephaly, hydrocephalus, and polymicrogyria; polydactyly
may also be seen. There is considerable phenotypic similarity between this disorder
and the megalencephaly-capillary malformation syndrome (MCAP; 602501) (summary by
Gripp et al., 2009).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the phosphatidylinositol 3-kinase, regulatory subunit 2 gene
(PIK3R2, 603157.0001);
Neoplasia : Increased risk of medulloblastoma (rare);
Prefixed ID : #603387;
Origin ID : 603387;
UMLS CUI : C4012727;
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)