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7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
5 signs/symptoms
Pulverulent cataract
Generalized junctional epidermolysis bullosa, non-Herlitz type

CRYBB1 COL17A1
CRYGC ITGB4
GJA3 LAMA3
GJA8 LAMB3
LIM2 LAMC2
MAF
VIM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VIM
(0.52)
ITGB4



Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Generalized junctional epidermolysis bullosa, non-Herlitz type
COL17A1 ITGB4 LAMA3 LAMB3 LAMC2



Pulverulent cataract
Generalized junctional epidermolysis bullosa, non-Herlitz type

Synonym(s):
- Dusty cataract

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

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
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


Pulverulent cataract

(no data available)