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

COL17A1 FLNA
ITGB4
LAMA3
LAMB3
LAMC2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



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

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

Synonym(s):
- CIPO

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

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

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

Frequent
- Abnormal fingernails
- Abnormal toenails

Occasional
- Anomalies of teeth and dentition


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