ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 5

1 OMIM reference -
2 associated genes
12 signs/symptoms

Epidermolysis bullosa simplex with pyloric atresia

Junctional epidermolysis bullosa - pyloric atresia

ITGB4	(UniProt - OMIM)		ITGA6	(UniProt - OMIM)
PLEC	(UniProt - OMIM)		ITGB4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLEC ITGB4	(0.83) (0.8)	ITGB4 ITGA6

Citations in the biomedical literature:

Epidermolysis bullosa simplex with pyloric atresia		Junctional epidermolysis bullosa - pyloric atresia
	Synonym(s): - EBS-PA		Synonym(s): - Carmi syndrome - JEB-PA

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic 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: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance - Early death / lethality - Polyhydramnios - Stomach / gastric anomaly - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Epidermolysis bullosa simplex with pyloric atresia		Junctional epidermolysis bullosa - pyloric atresia
	Very frequent - Prematurity 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		Very frequent - Duodenal atresia / stenosis / megaduodenum Frequent - Chronic skin infection / ulcerations / ulcers / cancrum Occasional - Ectropion / entropion / eyelid eversion - Gastric / pyloric stenosis - Nails anomalies - Pterygion - Ureteral stenosis / narrowing