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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Congenital muscular dystrophy, Ullrich type
Legg-Calvé-Perthes disease

COL6A1 COL2A1
COL6A2
COL6A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL6A1
(0.52)
COL2A1



Citations in the biomedical literature:


Congenital muscular dystrophy, Ullrich type
COL6A1 COL6A2 COL6A3
Legg-Calvé-Perthes disease
COL2A1



Congenital muscular dystrophy, Ullrich type
Legg-Calvé-Perthes disease

Synonym(s):
- Scleroatonic muscular dystrophy
- UCMD
- Ullrich disease

Synonym(s):
- Aseptic necrosis of the capital femoral epiphysis
- Osteochondritis of the capital femoral epiphysis
- Osteochondrosis of the capital femoral epiphysis
- Perthes disease

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- 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:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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

Legg-Calvé-Perthes disease

Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Articular / joint pain / arthralgia
- Cartilage destruction / chondrolysis
- Delayed bone age
- Joint / articular deformation
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteonecrosis / bone infarction
- Polygenic / multifactorial inheritance
- Short stature / dwarfism / nanism



Congenital muscular dystrophy, Ullrich type

(no data available)