ODCs

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Megalencephaly-capillary malformation-polymicrogyria syndrome

1 OMIM reference -
1 associated gene
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Neuroferritinopathy

1 OMIM reference -
1 associated gene
17 signs/symptoms

Megalencephaly-capillary malformation-polymicrogyria syndrome

Neuroferritinopathy

PIK3CA

(UniProt - OMIM)

FTL

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3CA	(0.63)	FTL

Citations in the biomedical literature:

Megalencephaly-capillary malformation-polymicrogyria syndrome		Neuroferritinopathy
	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): - Adult basal ganglia disease - Ferritin-related neurodegeneration - Hereditary ferritinopathy

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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 / 1 000 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C548080


COMMON SIGNS	- Autosomal dominant inheritance

Megalencephaly-capillary malformation-polymicrogyria syndrome		Neuroferritinopathy
	Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Asymmetry of the body / hemiatrophy / hemihyperthrophy - 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		Very frequent - Ataxia / incoordination / trouble of the equilibrium - Chorea / athetosis / choreoathetosis / choreic syndrome - Dystonia / torticollis / writer's cramp / blepharospasms - Hypertonia / spasticity / rigidity / stiffness Frequent - Abnormal eye movements / oculomotor disorder - Abnormal gait - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Motor deficit / trouble Occasional - Alexia / agraphia / writing / reading troubles - Constipation - Elocution disorders / dysarthria / dysphonia - Hypotension - Obnubilation / coma / lethargia / desorientation - Psychic / psychomotor regression / dementia / intellectual decline - Tremor