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Epidermolysis bullosa simplex with pyloric atresia
1 OMIM reference -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
Epidermolysis bullosa simplex with pyloric atresia
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome

ITGB4
(UniProt - OMIM)
 ITGA3
(UniProt - OMIM)
PLEC
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ITGB4
(0.63)
ITGA3


Citations in the biomedical literature:


Epidermolysis bullosa simplex with pyloric atresia
ITGB4 PLEC
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
ITGA3



Epidermolysis bullosa simplex with pyloric atresia
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome

Synonym(s):
- EBS-PA
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
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: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Epidermolysis bullosa simplex with pyloric atresia

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


Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome

(no data available)