ODCs

Click node...

Megalencephaly-capillary malformation-polymicrogyria syndrome

1 OMIM reference -
1 associated gene
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Familial multiple nevi flammei

1 OMIM reference -
1 associated gene
25 signs/symptoms

Megalencephaly-capillary malformation-polymicrogyria syndrome

Familial multiple nevi flammei

PIK3CA

(UniProt - OMIM)

GNAQ

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3CA	(0.73)	GNAQ

Citations in the biomedical literature:

Megalencephaly-capillary malformation-polymicrogyria syndrome		Familial multiple nevi flammei
	Synonym(s): - MCAP - MCM - MCMTC - Macrocephaly - cutis marmorata telangiectatica congenita - Macrocephaly-capillary malformation syndrome - Megalencephaly - cutis marmorata telangiectatica congenita - Megalencephaly-capillary malformation syndrome		Synonym(s): - Familial multiple port-wine stains

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Autosomal dominant inheritance - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cardiac rhythm disorder / arrhythmia - Intellectual deficit / mental / psychomotor retardation / learning disability - Macules

Megalencephaly-capillary malformation-polymicrogyria syndrome		Familial multiple nevi flammei
	Very frequent - Asymmetry of the body / hemiatrophy / hemihyperthrophy - 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 - 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 - 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		Very frequent - Irregular / in bands / reticular skin hyperpigmentation Frequent - Follicular / erythematous / edematous papules / milium Occasional - Anomalies of bones / skeletal anomalies - Anomalies of spine, vertebrae and pelvis - Chronic skin infection / ulcerations / ulcers / cancrum - Cranial nerve anomalies - Cutaneous edema - Glaucoma - Hemiplegia / diplegia / hemiparesia / limb palsy - Intracranial / cerebral calcifications - Intracranial / cerebral / meningeal hemorrhage - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Lower limb segmental anomalies - Pulmonary thromboembolism - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Upper limb segmental anomalies - Varices / varicous veins / venous insufficiency - Venous thrombosis / phlebitis / thrombophlebitis