ODCs

Click node...

1 associated gene
2 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

1 OMIM reference -
2 associated genes
12 signs/symptoms

Late-onset junctional epidermolysis bullosa

Junctional epidermolysis bullosa - pyloric atresia

COL17A1	(UniProt - OMIM)		ITGA6	(UniProt - OMIM)
			ITGB4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL17A1 COL17A1	(0.88) (0.75)	ITGB4 ITGA6

Citations in the biomedical literature:

Late-onset junctional epidermolysis bullosa		Junctional epidermolysis bullosa - pyloric atresia
	Synonym(s): - EB progressive - JEB-lo		Synonym(s): - Carmi syndrome - JEB-PA

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic 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: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: - 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: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Late-onset junctional epidermolysis bullosa		Junctional epidermolysis bullosa - pyloric atresia
	(no more signs)		Very frequent - Duodenal atresia / stenosis / megaduodenum - Stomach / gastric anomaly Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Polyhydramnios Occasional - Early death / lethality - Ectropion / entropion / eyelid eversion - Gastric / pyloric stenosis - Nails anomalies - Pterygion - Ureteral stenosis / narrowing