Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2

Preferred Label : Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2;

Symbol : MPPH2;

CISMeF acronym : MPPH2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the v-AKT murine thymoma viral oncogene homolog 3 gene (AKT3, 611223.0001);

Prefixed ID : #615937;

Details

Origin ID

615937;

UMLS CUI

C4014738;

Genes related to phenotype
- Akt serine/threonine kinase 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cutis marmorata [HPO term]
- Hemimegalencephaly [HPO term]
- Hydrocephalus [HPO term]
- Hyperextensible skin [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Polymicrogyria [HPO term]
- Postaxial hand polydactyly [HPO term]
- Seizure [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome [ORDO Disease]
See also inter- (CISMeF)
- AKT3 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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