ODCs

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1 OMIM reference -
3 associated genes
No signs/symptoms info

COMMON GENES: 3
PROTEIN INTERACTIONS: 2

1 OMIM reference -
3 associated genes
7 signs/symptoms

Congenital muscular dystrophy, Ullrich type

Bethlem myopathy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL6A1 COL6A1	(0.52) (0.52)	COL6A2 COL6A3

Citations in the biomedical literature:

Congenital muscular dystrophy, Ullrich type		Bethlem myopathy
	Synonym(s): - Scleroatonic muscular dystrophy - UCMD - Ullrich disease		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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		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
Congenital muscular dystrophy, Ullrich type
(no data available)