ODCs

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1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 4

1 OMIM reference -
2 associated genes
14 signs/symptoms

Lethal acantholytic epidermolysis bullosa

Epidermolysis bullosa simplex with pyloric atresia

DSP	(UniProt - OMIM)		ITGB4	(UniProt - OMIM)
JUP	(UniProt - OMIM)		PLEC	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JUP JUP	(0.49) (0.49)	ITGB4 PLEC

Citations in the biomedical literature:

Lethal acantholytic epidermolysis bullosa		Epidermolysis bullosa simplex with pyloric atresia
	Synonym(s): - LAEB		Synonym(s): - EBS-PA

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic 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: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535493		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Lethal acantholytic epidermolysis bullosa		Epidermolysis bullosa simplex with pyloric atresia
	Very frequent - Absent / small fingernails / anonychia of hands - Alopecia - Chronic skin infection / ulcerations / ulcers / cancrum - Premature eruption of teeth / natal teeth Occasional - Cardiomyopathy / hypertrophic / dilated - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis		Very frequent - Polyhydramnios - Prematurity - Stomach / gastric anomaly Frequent - Anaemia - Anomalies of nose and olfaction - Dehydration / hydroelectrolytic loss - 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