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

TRAPS syndrome

1 OMIM reference -
1 associated gene
37 signs/symptoms

Megalencephaly-capillary malformation-polymicrogyria syndrome

TRAPS syndrome

PIK3CA

(UniProt - OMIM)

TNFRSF1A

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3CA	(0.63)	TNFRSF1A

Citations in the biomedical literature:

Megalencephaly-capillary malformation-polymicrogyria syndrome		TRAPS 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): - Autosomal dominant periodic fever - Familial hibernian fever - TNF receptor 1 associated periodic syndrome - Tumor necrosis factor receptor 1 associated periodic syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Macules

Megalencephaly-capillary malformation-polymicrogyria syndrome		TRAPS syndrome
	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 - 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 - Acute abdominal pain / colic - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Cutaneous rash - Erysipela - Fever / chilling - Malabsorption / chronic diarrhea / steatorrhea - Myalgia / muscular pain - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion Frequent - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Arthritis / synovitis / synovial proliferation - Constipation - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperleukocytosis / leukocytosis - Intestinal obstruction / ileus - Lymphadenopathy / polyadenopathies - Nausea / vomiting / regurgitation / merycism / hyperemesis - Splenomegaly - Testes inflammation / orchitis Occasional - Articular / joint pain / arthralgia - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Cranial nerves palsy - Dizziness - Ecchymoses - Facial pain / cephalalgia / migraine - Fasciitis - Follicular / erythematous / edematous papules / milium - Myocardium anomalies / myocarditis - Myositis - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Peritonitis / peritoneal abscess - Pharyngitis - Psychic / behavioural troubles - Sacroiliac joints anomalies - Thoracic / chest pain - Vascularitis / vasculitides / arteritis