ODCs

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1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Epidermolysis bullosa simplex with mottled pigmentation

Juvenile polyposis of infancy

KRT14	(UniProt - OMIM)		BMPR1A	(UniProt - OMIM)
KRT5	(UniProt - OMIM)		PTEN	(UniProt - OMIM)


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

Citations in the biomedical literature:

Epidermolysis bullosa simplex with mottled pigmentation		Juvenile polyposis of infancy
	Synonym(s): - EBS-MP		Synonym(s): - Infantile juvenile polyposis syndrome

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - 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: unknown Average age onset: neonatal/infancy 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: before age 5 Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535959		External references: 1 OMIM reference - No MeSH references

Epidermolysis bullosa simplex with mottled pigmentation
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Autosomal dominant inheritance - Follicular / erythematous / edematous papules / milium - Irregular / patchy skin hypopigmentation - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal fingernails - Bruisability - Nails anomalies - Palmoplantar hyperkeratosis / keratoderma - Premature ageing
Juvenile polyposis of infancy
(no data available)