ODCs

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Megalencephaly-capillary malformation-polymicrogyria syndrome

1 OMIM reference -
1 associated gene
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Sturge-Weber syndrome

1 OMIM reference -
1 associated gene
33 signs/symptoms

Megalencephaly-capillary malformation-polymicrogyria syndrome

Sturge-Weber syndrome

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		Sturge-Weber syndrome
	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): - Encephalofacial angiomatosis - Encephalotrigeminal angiomatosis - SWS - Sturge-Weber-Dimitri syndrome - Sturge-Weber-Krabbe angiomatosis - Sturge-Weber-Krabbe syndrome

	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 eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic 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: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D013341


COMMON SIGNS	- Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Macules - Visceral angiomatosis (excluding skin)

Megalencephaly-capillary malformation-polymicrogyria syndrome		Sturge-Weber syndrome
	Very frequent - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Autosomal dominant inheritance - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Macrostomia / big mouth - Polydactyly of toes - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Telangiectasiae of the skin - Upper limb polydactyly / hexadactyly 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 - 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		Very frequent - Autism / autistic disoders - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Glaucoma - Hemiplegia / diplegia / hemiparesia / limb palsy - Intracranial / cerebral calcifications - Ptosis - Retinal vascular anomalies / retinal telangiectasia - Strabismus / squint - Vascular anomalies of skin / mucosae Occasional - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Anomalies of eyes and vision - Areflexia / hyporeflexia - Bone tumefaction / swelling - Cavernous / tuberous hemangioma - Cerebral vascular anomalies - Choroidal anomalies / atrophy / choroideremia - Coloboma of iris - Facial pain / cephalalgia / migraine - Hematomas - Hypereflexia - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Macroglossia / tongue protrusion / proeminent / hypertrophic - Pulmonary thromboembolism - Retinal detachment - Venous thrombosis / phlebitis / thrombophlebitis