Details of Disease | DrugMAP

General Information of Disease (ID: DISDC4S5)

Disease Name	Bethlem myopathy 2
Synonyms	COL12A1 Bethlem myopathy; Bethlem myopathy type 2; myopathic Ehlers-Danlos syndrome; Bethlem myopathy 2; BTHLM2; myopathic EDS; Bethlem myopathy caused by mutation in COL12A1; EDS, myopathic type; Ehlers-Danlos syndrome, myopathic type
Disease Hierarchy	DISSVBRR: Ehlers-Danlos syndrome DISVF5K2: Bethlem myopathy DISDC4S5: Bethlem myopathy 2
Disease Identifiers	MONDO ID MONDO_0034022 UMLS CUI C4225313 OMIM ID 616471 MedGen ID 907426 Orphanet ID 536516

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL12A1	OTHLTV53	Strong	Autosomal dominant	[1]
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References

1	Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet. 2014 May 1;23(9):2339-52. doi: 10.1093/hmg/ddt627. Epub 2013 Dec 11.