ODCs

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Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

1 OMIM reference -
2 associated genes
15 signs/symptoms

PROTEIN INTERACTIONS: 2

Epidermolysis bullosa simplex, Dowling-Meara type

1 OMIM reference -
2 associated genes
18 signs/symptoms

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

Epidermolysis bullosa simplex, Dowling-Meara type

AKT3	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
PIK3R2	(UniProt - OMIM)		KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3R2 PIK3R2	(0.63) (0.63)	KRT14 KRT5

Citations in the biomedical literature:

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus		Epidermolysis bullosa simplex, Dowling-Meara type
	Synonym(s): - MPPH syndrome		Synonym(s): - Epidermolysis bullosa simplex, herpetiformis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - 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: no data available Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant

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

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus		Epidermolysis bullosa simplex, Dowling-Meara type
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) Frequent - Cardiac septal defect - Depressed nasal bridge - Ectopic / horseshoe / fused kidneys - High forehead - Hypertelorism - Long / large / bulbous nose - Microstomia / little mouth - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Seizures / epilepsy / absences / spasms / status epilepticus - Telecanthus / canthal dystopy - Ventricular septal defect / interventricular communication		Very frequent - Abnormal fingernails - Anomalies of skin, subcutaneous tissue and mucosae - Autosomal dominant inheritance - Mucosal / cutaneous hemorrhage - Nails anomalies - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Abnormal scarring / cheloids / hypertrophic scars - Constipation - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Skin hypoplasia / aplasia / atrophy - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)