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4 OMIM references -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
12 signs/symptoms
Chronic intestinal pseudoobstruction
Junctional epidermolysis bullosa - pyloric atresia

FLNA ITGA6
ITGB4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNA
(0.56)
ITGB4



Citations in the biomedical literature:


Chronic intestinal pseudoobstruction
FLNA
Junctional epidermolysis bullosa - pyloric atresia
ITGA6 ITGB4



Chronic intestinal pseudoobstruction
Junctional epidermolysis bullosa - pyloric atresia

Synonym(s):
- CIPO

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

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
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:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Gastric / pyloric stenosis


Chronic intestinal pseudoobstruction
Junctional epidermolysis bullosa - pyloric atresia

Very frequent
- Intestinal / colonic anomaly

Frequent
- Intestinal / gut / bowel malrotation
- Structural anomalies of the nervous system

Occasional
- Patent ductus arteriosus
- Platelets shape anomalies


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
- Nails anomalies
- Pterygion
- Ureteral stenosis / narrowing