ODCs

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2 OMIM references -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
6 signs/symptoms

Epidermolytic ichthyosis

Keratoderma hereditarium mutilans with ichthyosis

KRT1	(UniProt - OMIM)		LOR	(UniProt - OMIM)
KRT10	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT1	(0.75)	LOR

Citations in the biomedical literature:

Epidermolytic ichthyosis		Keratoderma hereditarium mutilans with ichthyosis
	Synonym(s): - BCIE - Bullous congenital ichthyosiform erythroderma - Bullous congenital ichthyosiform erythroderma of Brock - Bullous ichthyosis - EHK - EI - Epidermolytic hyperkeratosis		Synonym(s): - Camisa disease - Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase - Loricrin keratoderma - Vohwinkel syndrome - ichthyosis

	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: (no data available)

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


COMMON SIGNS	- Ichthyosis / ichthyosiform dermatitis - Palmoplantar hyperkeratosis / keratoderma

Epidermolytic ichthyosis		Keratoderma hereditarium mutilans with ichthyosis
	Very frequent - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - 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		Occasional - Auto-aggressivity / auto-mutilation - Hypertonia / spasticity / rigidity / stiffness - Motor deficit / trouble - Nails anomalies