Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

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;

Details

Origin ID

603387;

UMLS CUI

C4012727;

Currated CISMeF NLP mapping
- Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome [MeSH Supplementary Concept]
- Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome [MeSH concept]
- Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) [SNOMED CT concept]
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome [ORDO Disease]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, regulatory subunit 2 [OMIM gene]
HPO term(s)
- Abnormally large globe [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability, profound [HPO term]
- Knee flexion contracture [HPO term]
- Kyphosis [HPO term]
- Long palpebral fissure [HPO term]
- Macrocephaly [HPO term]
- Megalencephaly [HPO term]
- Mitral regurgitation [HPO term]
- Pachygyria [HPO term]
- Polymicrogyria [HPO term]
- Postaxial polydactyly [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Thick corpus callosum [HPO term]
- Thoracic scoliosis [HPO term]
- Vascular ring [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome [ORDO Disease]
See also inter- (CISMeF)
- AKT3 wt Allele [NCIt concept]
- PIK3R2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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