ODCs

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1 OMIM reference -
2 associated genes
4 signs/symptoms

PROTEIN INTERACTIONS: 2

1 associated gene
No signs/symptoms info

Localized epidermolysis bullosa simplex

Familial adenomatous polyposis due to 5q22.2 microdeletion

KRT14	(UniProt - OMIM)		APC	(UniProt - OMIM)
KRT5	(UniProt - OMIM)


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

Citations in the biomedical literature:

Localized epidermolysis bullosa simplex		Familial adenomatous polyposis due to 5q22.2 microdeletion
	Synonym(s): - EBS-loc - Epidermolysis bullosa simplex of palms and soles - Epidermolysis bullosa simplex, Weber-Cockayne type		Synonym(s): - Colorectal adenomatous polyposis due to monosomy 5q22.2 - FAP due to monosomy 5q22.2 - Familial adenomatous polyposis due to del(5)(q22.2) - Familial adenomatous polyposis due to monosomy 5q22.2 - Familial polyposis coli due to monosomy 5q22.2

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	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: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references 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
Familial adenomatous polyposis due to 5q22.2 microdeletion
(no data available)