ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
15 signs/symptoms

Superficial epidermolytic ichthyosis

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

KRT2	(UniProt - OMIM)		AKT3	(UniProt - OMIM)
			PIK3R2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT2	(0.63)	PIK3R2

Citations in the biomedical literature:

Superficial epidermolytic ichthyosis		Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
	Synonym(s): - Ichthyosis bullosa of Siemens - SEI		Synonym(s): - MPPH syndrome

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: autosomal dominant		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

	External references: 1 OMIM reference - 1 MeSH reference: D053560		External references: 1 OMIM reference - No MeSH references

Superficial epidermolytic ichthyosis		Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
	Very frequent - Autosomal dominant inheritance - Cutaneous edema - Ichthyosis / ichthyosiform dermatitis - Palmoplantar hyperkeratosis / keratoderma - Positive Nikolski's sign / achantolysis - Thin skin - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Erythema / erythematous lesions / erythroderma / polymorphous erythema		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