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4 OMIM references -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
5 signs/symptoms
Chronic intestinal pseudoobstruction
Generalized junctional epidermolysis bullosa, non-Herlitz type

FLNA COL17A1
ITGB4
LAMA3
LAMB3
LAMC2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Chronic intestinal pseudoobstruction
FLNA
Generalized junctional epidermolysis bullosa, non-Herlitz type
COL17A1 ITGB4 LAMA3 LAMB3 LAMC2



Chronic intestinal pseudoobstruction
Generalized junctional epidermolysis bullosa, non-Herlitz type

Synonym(s):
- CIPO

Synonym(s):
- GABEB
- Generalized atrophic benign epidermolysis bullosa
- JEB-nH gen
- Junctional epidermolysis bullosa generalisata mitis
- Junctional epidermolysis bullosa, Disentis type

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: unknown
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

Chronic intestinal pseudoobstruction
Generalized junctional epidermolysis bullosa, non-Herlitz type

Very frequent
- Intestinal / colonic anomaly

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

Occasional
- Patent ductus arteriosus
- Platelets shape anomalies


Very frequent
- Nails anomalies
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal fingernails
- Abnormal toenails

Occasional
- Anomalies of teeth and dentition