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Megalencephaly-capillary malformation-polymicrogyria syndrome
1 OMIM reference -
1 associated gene
57 connected diseases
36 signs/symptoms
Disease Type of connection
Hereditary nonpolyposis colon cancer
Cowden syndrome
CLOVE syndrome
Hemimegalencephaly
Macrodactyly of fingers, unilateral
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Juvenile myelomonocytic leukemia
Autoimmune lymphoproliferative syndrome
Costello syndrome
Linear nevus sebaceus syndrome
Noonan syndrome
Autosomal agammaglobulinemia
SHORT syndrome
Phakomatosis pigmentokeratotica
Severe combined immunodeficiency due to LCK deficiency
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Lethal congenital contracture syndrome type 2
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Estrogen resistance syndrome
Familial multiple nevi flammei
Sturge-Weber syndrome
Familial amyloidosis, Finnish type
Large congenital melanocytic nevus
Cardiofaciocutaneous syndrome
Familial pancreatic carcinoma
Pilocytic astrocytoma
22q11.2 deletion syndrome
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Amyotrophic lateral sclerosis
Autosomal dominant limb-girdle muscular dystrophy type 1D
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Genetic hyperferritinemia without iron overload
Hereditary hyperferritinemia with congenital cataracts
Hyper-IgM syndrome type 3
Intermittent hydrarthrosis
Neuroferritinopathy
Proteus syndrome
Seckel syndrome
TRAPS syndrome
Autosomal dominant nonsyndromic intellectual deficit
West syndrome
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Autosomal recessive systemic lupus erythematosus
Bilateral striopallidodentate calcinosis
Chronic mucocutaneous candidiasis
Chronic myelomonocytic leukemia
Common variable immunodeficiency
Herpetic encephalitis
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Myeloid neoplasm associated with PDGFRB rearrangement
Susceptibility to viral and mycobacterial infections
Unclassified chronic myeloproliferative disease
Synonym(s):
- MCAP
- MCM
- MCMTC
- Macrocephaly - cutis marmorata telangiectatica congenita
- Macrocephaly-capillary malformation syndrome
- Megalencephaly - cutis marmorata telangiectatica congenita
- Megalencephaly-capillary malformation syndrome
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PIK3CA P42336171834
Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Autosomal dominant inheritance
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macrostomia / big mouth
- Polydactyly of toes
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Telangiectasiae of the skin
- Upper limb polydactyly / hexadactyly
- Visceral angiomatosis (excluding skin)

Frequent
- Broad cheeks / cherub-like / cherubin face
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cutis marmorata / marbled skin / livedo
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- High forehead
- Hydrocephaly
- Hyperextensible joints / articular hyperlaxity
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macules
- Structural anomalies of the nervous system

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of mouth, lip and philtrum
- Arnold-Chiari anomaly
- Cardiac rhythm disorder / arrhythmia
- Congenital cardiac anomaly / malformation / cardiopathy
- Deepset eyes / enophthalmos
- Depressed nasal bridge
- Neoplasms / tumors
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Transient cerebral ischemia / stroke