ODCs

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1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
12 signs/symptoms

Familial isolated congenital asplenia

Junctional epidermolysis bullosa - pyloric atresia

NKX2-5	(UniProt - OMIM)		ITGA6	(UniProt - OMIM)
RPSA	(UniProt - OMIM)		ITGB4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RPSA	(0.52)	ITGA6

Citations in the biomedical literature:

Familial isolated congenital asplenia		Junctional epidermolysis bullosa - pyloric atresia
	Synonym(s): (no synonyms)		Synonym(s): - Carmi syndrome - JEB-PA

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		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

Junctional epidermolysis bullosa - pyloric atresia
	Very frequent - Autosomal recessive inheritance - Duodenal atresia / stenosis / megaduodenum - Stomach / gastric anomaly - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment 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
Familial isolated congenital asplenia
(no data available)