Cytoscape Web
Click node...

Congenital muscular dystrophy, Ullrich type
1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Nodulosis-arthropathy-osteolysis syndrome
2 OMIM references -
2 associated genes
No signs/symptoms info
Congenital muscular dystrophy, Ullrich type
Nodulosis-arthropathy-osteolysis syndrome

COL6A1
(UniProt - OMIM)
 MMP14
(UniProt - OMIM)
COL6A2
(UniProt - OMIM)
 MMP2
(UniProt - OMIM)
COL6A3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
COL6A3
(0.52)
MMP2


Citations in the biomedical literature:


Congenital muscular dystrophy, Ullrich type
COL6A1 COL6A2 COL6A3
Nodulosis-arthropathy-osteolysis syndrome
MMP14 MMP2



Congenital muscular dystrophy, Ullrich type
Nodulosis-arthropathy-osteolysis syndrome

Synonym(s):
- Scleroatonic muscular dystrophy
- UCMD
- Ullrich disease
Synonym(s):
- Multicentric osteolysis - nodulosis - arthropathy
- NAO syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.