Megalencephaly-capillary malformation-polymicrogyria syndrome

Preferred Label : Megalencephaly-capillary malformation-polymicrogyria syndrome;

Symbol : MCAP;

CISMeF acronym : MCAP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macrocephaly-capillary malformation; Megalencephaly-capillary malformation syndrome; MCMTC; Megalencephaly-cutis marmorata telangiectatica congenita; Macrocephaly-cutis marmorata telangiectatica congenita; MCM;

Description : Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by Mirzaa et al., 2012). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (Conway et al., 2007). Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria.;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, 171834.0003);

Neoplasia : Increased risk of meningioma; Increased risk of Wilms tumor; Increased risk of leukemia;

Prefixed ID : #602501;

Details

Origin ID

602501;

UMLS CUI

C1865285;

Automatic exact mappings (from CISMeF team)
- BRD4 wt Allele [NCIt concept]
- Cisplatin/Cyclophosphamide/Doxorubicin/Misonidazole [NCIt concept]
- Micron [NCIt concept]
- Multicentric Castleman Disease [NCIt concept]
- Multicentric Castleman disease [ORDO Disease]
- PIK3CA wt Allele [NCIt concept]
- bromodomain containing 4 [ORDO Gene]
- bromodomain containing 4 [HGNC gene]
- methylmalonyl-CoA mutase [ORDO Gene]
- multi-centric castleman's disease [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Megalencephaly capillary malformation (disorder) [SNOMED CT concept]
- Megalencephaly cutis marmorata telangiectatica congenita [MeSH concept]
- Megalencephaly-capillary malformation syndrome (disorder) [SNOMED CT concept]
- Megalencephaly-capillary malformation-polymicrogyria syndrome [ORDO Disease]
- megalencephaly cutis marmorata telangiectatica congenita [MeSH Supplementary Concept]
False automatic mappings
- Medical Countermeasure [NCIt concept]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
HPO term(s)
- Broad forehead [HPO term]
- Cavum septum pellucidum [HPO term]
- Cutis marmorata [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hernia [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Joint laxity [HPO term]
- Large earlobe [HPO term]
- Leukemia [HPO term]
- Megalencephaly [HPO term]
- Meningioma [HPO term]
- Microphthalmia [HPO term]
- Nephroblastoma [HPO term]
- Overgrowth [HPO term]
- Polydactyly [HPO term]
- Polymicrogyria [HPO term]
- Progressive macrocephaly [HPO term]
- Seizure [HPO term]
- Smooth philtrum [HPO term]
- Somatic mutation [HPO term]
- Sporadic [HPO term]
- Syndactyly [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Megalencephaly-capillary malformation-polymicrogyria syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Megalencephaly capillary malformation (disorder) [SNOMED CT concept]
- Megalencephaly cutis marmorata telangiectatica congenita [MeSH concept]
- Megalencephaly-capillary malformation syndrome [MedDRA LLT]
- Megalencephaly-capillary malformation syndrome (disorder) [SNOMED CT concept]
- Megalencephaly-capillary malformation-polymicrogyria syndrome [ORDO Disease]
- megalencephaly cutis marmorata telangiectatica congenita [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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