ODCs

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Epidermolytic ichthyosis

2 OMIM references -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Lethal congenital contracture syndrome type 1

1 OMIM reference -
1 associated gene
20 signs/symptoms

Epidermolytic ichthyosis

Lethal congenital contracture syndrome type 1

KRT1	(UniProt - OMIM)		GLE1	(UniProt - OMIM)
KRT10	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT10	(0.63)	GLE1

Citations in the biomedical literature:

Epidermolytic ichthyosis		Lethal congenital contracture syndrome type 1
	Synonym(s): - BCIE - Bullous congenital ichthyosiform erythroderma - Bullous congenital ichthyosiform erythroderma of Brock - Bullous ichthyosis - EHK - EI - Epidermolytic hyperkeratosis		Synonym(s): - Herva disease - LCCS1 - Multiple contracture syndrome, Finnish type

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare respiratory 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 - 1 MeSH reference: C537194

Epidermolytic ichthyosis		Lethal congenital contracture syndrome type 1
	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		Very frequent - Autosomal recessive inheritance - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Micrognathia / retrognathia / micrognathism / retrognathism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Short stature / dwarfism / nanism - Stillbirth / neonatal death Frequent - Cortical anomaly / thick bone cortical layer - Cutaneous / amniotic bands / webbing of joints - Elbow anomalies(excluding luxation) - Low set ears / posteriorly rotated ears - Mutiple fractures / bone fragility - Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia - Polyhydramnios - Restricted joint mobility / joint stiffness / ankylosis - Rib structure anomalies - Short neck - Webbed neck / pterygium colli Occasional - Abnormal vertebral size / shape