ODCs

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1 OMIM reference -
2 associated genes
4 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
19 signs/symptoms

Localized epidermolysis bullosa simplex

Epidermolysis bullosa simplex due to plakophilin deficiency

KRT14	(UniProt - OMIM)		PKP1	(UniProt - OMIM)
KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT14 KRT5	(0.78) (0.63)	PKP1 PKP1

Citations in the biomedical literature:

Localized epidermolysis bullosa simplex		Epidermolysis bullosa simplex due to plakophilin deficiency
	Synonym(s): - EBS-loc - Epidermolysis bullosa simplex of palms and soles - Epidermolysis bullosa simplex, Weber-Cockayne type		Synonym(s): - Ectodermal dysplasia - skin fragility syndrome - McGrath syndrome

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - 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: childhood Average age of death: normal 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 recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536183


COMMON SIGNS	- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Localized epidermolysis bullosa simplex		Epidermolysis bullosa simplex due to plakophilin deficiency
	Very frequent - Autosomal dominant inheritance - Ecchymoses Frequent - Hyperhidrosis / increased sweating		Very frequent - Alopecia - Anomalies of eyelids, eyelashes and lacrimal system - Autosomal recessive inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Eyebrows anomalies - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Nails anomalies - Palmoplantar hyperkeratosis / keratoderma Frequent - Blepharitis / eyelid inflammation - Dry / squaly skin / exfoliation - Failure to thrive / difficulties for feeding in infancy / growth delay - Fissured / scrotal tongue - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Immunodeficiency / increased susceptibility to infections / recurrent infections - Malabsorption / chronic diarrhea / steatorrhea - Pruritus / itching Occasional - Woolly / frizzy hair