ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

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

1 OMIM reference -
1 associated gene
14 signs/symptoms

Epidermolysis bullosa simplex with pyloric atresia

Epidermolysis bullosa simplex with muscular dystrophy

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


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

Citations in the biomedical literature:

Epidermolysis bullosa simplex with pyloric atresia		Epidermolysis bullosa simplex with muscular dystrophy
	Synonym(s): - EBS-PA		Synonym(s): - EBS-MD - Limb girdle dystrophy with epidermolysis bullosa simplex

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic 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: - 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 - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Epidermolysis bullosa simplex with pyloric atresia		Epidermolysis bullosa simplex with muscular dystrophy
	Very frequent - Polyhydramnios - Prematurity - Stomach / gastric anomaly 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 - Alopecia - Muscle weakness / flaccidity - Myopathy - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thin / hypoplastic / hyperconvex fingernails Frequent - Enamel anomaly - Follicular / erythematous / edematous papules / milium - Ptosis - Skin hypoplasia / aplasia / atrophy Occasional - Asthenia / fatigue / weakness - Myasthenia