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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Junctional epidermolysis bullosa inversa
Nodulosis-arthropathy-osteolysis syndrome

LAMC2 MMP14
MMP2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LAMC2
(0.52)
MMP2



Citations in the biomedical literature:


Junctional epidermolysis bullosa inversa
LAMC2
Nodulosis-arthropathy-osteolysis syndrome
MMP14 MMP2



Junctional epidermolysis bullosa inversa
Nodulosis-arthropathy-osteolysis syndrome

Synonym(s):
- EBJ-I
- Inverse JEB
- JEB-I

Synonym(s):
- Multicentric osteolysis - nodulosis - arthropathy
- NAO syndrome

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

Junctional epidermolysis bullosa inversa

Very frequent
- Autosomal recessive inheritance
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal fingernails



Nodulosis-arthropathy-osteolysis syndrome

(no data available)