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1 OMIM reference -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Epidermolysis bullosa simplex with pyloric atresia
Aneurysm - osteoarthritis syndrome

ITGB4 SMAD3
PLEC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ITGB4
(0.72)
SMAD3



Citations in the biomedical literature:


Epidermolysis bullosa simplex with pyloric atresia
ITGB4 PLEC
Aneurysm - osteoarthritis syndrome
SMAD3



Epidermolysis bullosa simplex with pyloric atresia
Aneurysm - osteoarthritis syndrome

Synonym(s):
- EBS-PA

Synonym(s):
- AOS
- Loeys-Dietz syndrome with osteoarthritis

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic 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: variable
Average age of death: -
Type of inheritance: autosomal dominant

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


Aneurysm - osteoarthritis syndrome

(no data available)