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Bethlem myopathy

1 OMIM reference -
3 associated genes
7 signs/symptoms

PROTEIN INTERACTIONS: 1

Chuvash erythrocytosis

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

Bethlem myopathy

Chuvash erythrocytosis

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL6A1	(0.63)	VHL

Citations in the biomedical literature:

Bethlem myopathy		Chuvash erythrocytosis
	Synonym(s): - Benign autosomal dominant myopathy		Synonym(s): - Chuvash polycythemia - Von Hippel-Lindau-dependent polycythemia

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

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
Chuvash erythrocytosis
(no data available)