ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
17 signs/symptoms

Epidermolysis bullosa simplex with pyloric atresia

Ehlers-Danlos syndrome with periventricular heterotopia

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ITGB4	(0.56)	FLNA

Citations in the biomedical literature:

Epidermolysis bullosa simplex with pyloric atresia		Ehlers-Danlos syndrome with periventricular heterotopia
	Synonym(s): - EBS-PA		Synonym(s): - EDS with periventricular heterotopia

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease - Rare systemic or rheumatologic 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: childhood Average age of death: no data available Type of inheritance: x-linked dominant

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

Epidermolysis bullosa simplex with pyloric atresia		Ehlers-Danlos syndrome with periventricular heterotopia
	Very frequent - Autosomal recessive inheritance - Polyhydramnios - Prematurity - Stomach / gastric anomaly - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment 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 - Gastric / pyloric stenosis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Herniae - Scoliosis - X-linked dominant inheritance Frequent - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cardiac valvulopathy - Hyperextensible joints / articular hyperlaxity - Intellectual deficit / mental / psychomotor retardation / learning disability - Patent ductus arteriosus - Seizures / epilepsy / absences / spasms / status epilepticus - Structural anomalies of the nervous system - Thin skin Occasional - Aortic root dilatation / dilation / aneurysm - Patella dislocation - Shoulder dislocation