ODCs

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2 OMIM references -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
2 associated genes
17 signs/symptoms

Epidermolytic ichthyosis

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

KRT1	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
KRT10	(UniProt - OMIM)		KRT5	(UniProt - OMIM)


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

Citations in the biomedical literature:

Epidermolytic ichthyosis		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	Synonym(s): - BCIE - Bullous congenital ichthyosiform erythroderma - Bullous congenital ichthyosiform erythroderma of Brock - Bullous ichthyosis - EHK - EI - Epidermolytic hyperkeratosis		Synonym(s): - Epidermolysis bullosa simplex, Koebner type - Epidermolysis bullosa simplex, KÃ¶bner type - Generalized EBS, non-Dowling-Meara type

	Classification (Orphanet): - Rare genetic disease - Rare skin 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: 1-9 / 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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535961


COMMON SIGNS	- Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Epidermolytic ichthyosis		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	Very frequent - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Ichthyosis / ichthyosiform dermatitis - 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		Very frequent - Autosomal recessive inheritance - Enanthema / aphtosa / aphta / leukoplakia - Mucosal / cutaneous hemorrhage - Muscle weakness / flaccidity Frequent - Enamel anomaly - Follicular / erythematous / edematous papules / milium - Hyperhidrosis / increased sweating - Nails anomalies - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Ptosis - Respiratory rhythm disorder Occasional - Failure to thrive / difficulties for feeding in infancy / growth delay - Myasthenia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction