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Late-onset junctional epidermolysis bullosa

1 associated gene
2 signs/symptoms

PROTEIN INTERACTIONS: 1

Keratosis palmoplantaris striata

3 OMIM references -
3 associated genes
4 signs/symptoms

Late-onset junctional epidermolysis bullosa

Keratosis palmoplantaris striata

COL17A1	(UniProt - OMIM)		DSG1	(UniProt - OMIM)
			DSP	(UniProt - OMIM)
			KRT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL17A1	(0.65)	DSP

Citations in the biomedical literature:

Late-onset junctional epidermolysis bullosa		Keratosis palmoplantaris striata
	Synonym(s): - EB progressive - JEB-lo		Synonym(s): - Keratosis palmoplantaris striata et areata - Keratosis palmoplantaris varians of Wachters - Striate palmoplantar keratoderma

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease		Classification (Orphanet): - 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 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 3 OMIM references - No MeSH references

Late-onset junctional epidermolysis bullosa		Keratosis palmoplantaris striata
	Very frequent - Autosomal recessive inheritance - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment		Very frequent - Autosomal dominant inheritance - Palmoplantar hyperkeratosis / keratoderma Frequent - Hair and scalp anomalies - Nails anomalies