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Epidermolysis bullosa simplex with pyloric atresia

1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Well-differentiated liposarcoma

3 associated genes
4 signs/symptoms

Epidermolysis bullosa simplex with pyloric atresia

Well-differentiated liposarcoma

ITGB4	(UniProt - OMIM)		CDK4	(UniProt - OMIM)
PLEC	(UniProt - OMIM)		HMGA2	(UniProt - OMIM)
			MDM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLEC	(0.63)	MDM2

Citations in the biomedical literature:

Epidermolysis bullosa simplex with pyloric atresia		Well-differentiated liposarcoma
	Synonym(s): - EBS-PA		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: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		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

Epidermolysis bullosa simplex with pyloric atresia		Well-differentiated liposarcoma
	Very frequent - Autosomal recessive inheritance - Polyhydramnios - Prematurity - Stomach / gastric anomaly - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Anaemia - Anomalies of nose and olfaction - Dehydration / hydroelectrolytic loss - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Restricted joint mobility / joint stiffness / ankylosis - Sepsis severe / septicemia Occasional - Early death / lethality		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