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Bethlem myopathy
1 OMIM reference -
3 associated genes
7 signs/symptoms
PROTEIN INTERACTIONS: 1
Legg-Calvé-Perthes disease
1 OMIM reference -
1 associated gene
9 signs/symptoms
Bethlem myopathy
Legg-Calvé-Perthes disease

COL6A1
(UniProt - OMIM)
 COL2A1
(UniProt - OMIM)
COL6A2
(UniProt - OMIM)
COL6A3
(UniProt - OMIM)

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


Citations in the biomedical literature:


Bethlem myopathy
COL6A1 COL6A2 COL6A3
Legg-Calvé-Perthes disease
COL2A1



Bethlem myopathy
Legg-Calvé-Perthes disease

Synonym(s):
- Benign autosomal dominant myopathy
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
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 -
1 MeSH reference: C535436
External references:
1 OMIM reference -
No MeSH references
Bethlem myopathy
Legg-Calvé-Perthes disease

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal dominant inheritance
- Camptodactyly of fingers
- Myopathy
- Restricted joint mobility / joint stiffness / ankylosis
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy



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