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Epidermolytic ichthyosis

2 OMIM references -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Dowling-Degos disease

4 OMIM references -
3 associated genes
No signs/symptoms info

Epidermolytic ichthyosis

Dowling-Degos disease

KRT1	(UniProt - OMIM)		KRT5	(UniProt - OMIM)
KRT10	(UniProt - OMIM)		POFUT1	(UniProt - OMIM)
			POGLUT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT1	(0.52)	KRT5

Citations in the biomedical literature:

Epidermolytic ichthyosis		Dowling-Degos disease
	Synonym(s): - BCIE - Bullous congenital ichthyosiform erythroderma - Bullous congenital ichthyosiform erythroderma of Brock - Bullous ichthyosis - EHK - EI - Epidermolytic hyperkeratosis		Synonym(s): - Reticular pigment anomaly of flexures

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the skin and subcutaneous tissue -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 4 OMIM references - No MeSH references

Epidermolytic ichthyosis
	Very frequent - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Ichthyosis / ichthyosiform dermatitis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment - Weight loss / loss of appetite / break in weight curve / general health alteration Frequent - Pigmented naevi / naevus pigmentosus / lentigo Occasional - Chronic skin infection / ulcerations / ulcers / cancrum - Follicular / conjunctival hamartomas - Palmoplantar hyperkeratosis / keratoderma
Dowling-Degos disease
(no data available)