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Epidermolysis bullosa simplex with pyloric atresia
1 OMIM reference -
2 associated genes
63 connected diseases
14 signs/symptoms
Disease Type of connection
Generalized junctional epidermolysis bullosa, non-Herlitz type
Localized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa - pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Amyotrophic lateral sclerosis
Pulverulent cataract
Extraskeletal myxoid chondrosarcoma
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
Late-onset junctional epidermolysis bullosa
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Estrogen resistance syndrome
17q11 microdeletion syndrome
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Dedifferentiated liposarcoma
Familial isolated dilated cardiomyopathy
Fibronectin glomerulopathy
Giant cell glioblastoma
Heritable pulmonary arterial hypertension
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Muscular dystrophy, Selcen type
Progressive non-fluent aphasia
Pseudohypoaldosteronism type 2E
Semantic dementia
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 1
Weaver syndrome
Well-differentiated liposarcoma
Young adult-onset Parkinsonism
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Frontotemporal dementia with motor neuron disease
Juvenile amyotrophic lateral sclerosis
Myxoid / round cell liposarcoma
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Desmoplastic small round cell tumor
Ehlers-Danlos syndrome with periventricular heterotopia
Ewing sarcoma
Extraskeletal Ewing sarcoma
Frontometaphyseal dysplasia
Hereditary spherocytosis
Melanoma of soft part
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

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
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
ITGB4 P16144147557
PLEC Q15149601282
Very frequent
- Autosomal recessive inheritance
- Polyhydramnios
- Prematurity
- Stomach / gastric anomaly
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

- 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

- Early death / lethality