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Localized epidermolysis bullosa simplex

1 OMIM reference -
2 associated genes
4 signs/symptoms

PROTEIN INTERACTIONS: 2

Well-differentiated liposarcoma

3 associated genes
4 signs/symptoms

Localized epidermolysis bullosa simplex

Well-differentiated liposarcoma

KRT14	(UniProt - OMIM)		CDK4	(UniProt - OMIM)
KRT5	(UniProt - OMIM)		HMGA2	(UniProt - OMIM)
			MDM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT14 KRT5	(0.72) (0.63)	MDM2 MDM2

Citations in the biomedical literature:

Localized epidermolysis bullosa simplex		Well-differentiated liposarcoma
	Synonym(s): - EBS-loc - Epidermolysis bullosa simplex of palms and soles - Epidermolysis bullosa simplex, Weber-Cockayne type		Synonym(s): - ALT - Atypical lipoma - Atypical lipomatous tumor - WDLS

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - 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: Class of prevalence: unknown Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

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

Localized epidermolysis bullosa simplex		Well-differentiated liposarcoma
	Very frequent - Autosomal dominant inheritance - Ecchymoses - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Hyperhidrosis / increased sweating		Very frequent - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Functional anomalies of the kidney and the urinary tract - Intestinal transit disorder