ODCs

Click node...

2 OMIM references -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
8 signs/symptoms

Epidermolytic ichthyosis

Superficial epidermolytic ichthyosis

KRT1	(UniProt - OMIM)		KRT2	(UniProt - OMIM)
KRT10	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT1 KRT10	(0.49) (0.49)	KRT2 KRT2

Citations in the biomedical literature:

Epidermolytic ichthyosis		Superficial epidermolytic ichthyosis
	Synonym(s): - BCIE - Bullous congenital ichthyosiform erythroderma - Bullous congenital ichthyosiform erythroderma of Brock - Bullous ichthyosis - EHK - EI - Epidermolytic hyperkeratosis		Synonym(s): - Ichthyosis bullosa of Siemens - SEI

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D053560


COMMON SIGNS	- Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Ichthyosis / ichthyosiform dermatitis - Palmoplantar hyperkeratosis / keratoderma - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Epidermolytic ichthyosis		Superficial epidermolytic ichthyosis
	Very frequent - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - 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 - Cutaneous edema - Positive Nikolski's sign / achantolysis - Thin skin