ODCs

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1 OMIM reference -
2 associated genes
4 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Localized epidermolysis bullosa simplex

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

KRT14	(UniProt - OMIM)		BTK	(UniProt - OMIM)
KRT5	(UniProt - OMIM)		ELF4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT5	(0.68)	BTK

Citations in the biomedical literature:

Localized epidermolysis bullosa simplex		Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
	Synonym(s): - EBS-loc - Epidermolysis bullosa simplex of palms and soles - Epidermolysis bullosa simplex, Weber-Cockayne type		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

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

Localized epidermolysis bullosa simplex
	Very frequent - Autosomal dominant inheritance - Ecchymoses - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Hyperhidrosis / increased sweating
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
(no data available)