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Junctional epidermolysis bullosa - pyloric atresia
1 OMIM reference -
2 associated genes
46 connected diseases
12 signs/symptoms
Disease Type of connection
Generalized junctional epidermolysis bullosa, non-Herlitz type
Localized junctional epidermolysis bullosa, non-Herlitz type
Epidermolysis bullosa simplex with pyloric atresia
Late-onset junctional epidermolysis bullosa
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Autosomal recessive centronuclear myopathy
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Giant cell glioblastoma
Gliosarcoma
Spinocerebellar ataxia type 1
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Catecholaminergic polymorphic ventricular tachycardia
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Early-onset autosomal dominant Alzheimer disease
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Cone rod dystrophy
Familial isolated congenital asplenia
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Pulverulent cataract
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
Naxos disease
Synonym(s):
- Carmi syndrome
- JEB-PA
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease
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: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ITGA6 P23229147556
ITGB4 P16144147557
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