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Localized epidermolysis bullosa simplex

1 OMIM reference -
2 associated genes
4 signs/symptoms

PROTEIN INTERACTIONS: 1

Limb-mammary syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

Localized epidermolysis bullosa simplex

Limb-mammary syndrome

KRT14	(UniProt - OMIM)		TP63	(UniProt - OMIM)
KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT5	(0.72)	TP63

Citations in the biomedical literature:

Localized epidermolysis bullosa simplex		Limb-mammary syndrome
	Synonym(s): - EBS-loc - Epidermolysis bullosa simplex of palms and soles - Epidermolysis bullosa simplex, Weber-Cockayne type		Synonym(s): - LMS

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535903

Localized epidermolysis bullosa simplex
	Very frequent - Autosomal dominant inheritance - Ecchymoses - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Hyperhidrosis / increased sweating
Limb-mammary syndrome
(no data available)