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1 OMIM reference -
5 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Generalized junctional epidermolysis bullosa, non-Herlitz type
Familial adenomatous polyposis due to 5q22.2 microdeletion

COL17A1 APC
ITGB4
LAMA3
LAMB3
LAMC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LAMA3
(0.63)
APC



Citations in the biomedical literature:


Generalized junctional epidermolysis bullosa, non-Herlitz type
COL17A1 ITGB4 LAMA3 LAMB3 LAMC2
Familial adenomatous polyposis due to 5q22.2 microdeletion
APC



Generalized junctional epidermolysis bullosa, non-Herlitz type
Familial adenomatous polyposis due to 5q22.2 microdeletion

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

Synonym(s):
- Colorectal adenomatous polyposis due to monosomy 5q22.2
- FAP due to monosomy 5q22.2
- Familial adenomatous polyposis due to del(5)(q22.2)
- Familial adenomatous polyposis due to monosomy 5q22.2
- Familial polyposis coli due to monosomy 5q22.2

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

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:
No OMIM references
No MeSH references

Generalized junctional epidermolysis bullosa, non-Herlitz type

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

Frequent
- Abnormal fingernails
- Abnormal toenails

Occasional
- Anomalies of teeth and dentition


Familial adenomatous polyposis due to 5q22.2 microdeletion

(no data available)