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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
2 associated genes
12 signs/symptoms
Epidermolysis bullosa simplex, Ogna type
Junctional epidermolysis bullosa - pyloric atresia

PLEC ITGA6
ITGB4


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Junctional epidermolysis bullosa - pyloric atresia
ITGA6 ITGB4



Epidermolysis bullosa simplex, Ogna type
Junctional epidermolysis bullosa - pyloric atresia

Synonym(s):
- EBS-O

Synonym(s):
- Carmi syndrome
- JEB-PA

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic 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: normal
Type of inheritance: autosomal dominant
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 -
1 MeSH reference: C535962
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Nails anomalies
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Epidermolysis bullosa simplex, Ogna type
Junctional epidermolysis bullosa - pyloric atresia

Very frequent
- Autosomal dominant inheritance
- Bruisability
- Ecchymoses

Frequent
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Skin hypoplasia / aplasia / atrophy



Very frequent
- Autosomal recessive inheritance
- Duodenal atresia / stenosis / megaduodenum
- Stomach / gastric anomaly

Frequent
- Chronic skin infection / ulcerations / ulcers / cancrum
- Polyhydramnios

Occasional
- Early death / lethality
- Ectropion / entropion / eyelid eversion
- Gastric / pyloric stenosis
- Pterygion
- Ureteral stenosis / narrowing