ODCs

Cytoscape Web

Click node...

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1
PROTEIN INTERACTIONS: 1

Bethlem myopathy

1 OMIM reference -
3 associated genes
7 signs/symptoms

Myosclerosis

Bethlem myopathy

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


COMMON GENES	COL6A2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL6A2	(0.52)	COL6A1

Citations in the biomedical literature:

Myosclerosis		Bethlem myopathy
	Synonym(s): - Congenital myosclerosis, LÃ¶wenthal type		Synonym(s): - Benign autosomal dominant myopathy

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535436

Bethlem myopathy
	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
Myosclerosis
(no data available)