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

PLEC ITGB4
PLEC


COMMON
GENES
PLEC


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
Epidermolysis bullosa simplex with pyloric atresia
ITGB4



Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with pyloric atresia

Synonym(s):
- EBS-O

Synonym(s):
- EBS-PA

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic 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: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C535962
External references:
1 OMIM reference -
No MeSH references


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


Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with pyloric atresia

Very frequent
- Autosomal dominant inheritance
- Bruisability
- Ecchymoses

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



Very frequent
- Autosomal recessive inheritance
- Polyhydramnios
- Prematurity
- Stomach / gastric anomaly

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