Details of Disease | DrugMAP

General Information of Disease (ID: DISVF5K2)

Disease Name	Bethlem myopathy
Synonyms	Bethlem myopathy 1; BTHLM1; Bethlem myopathy type 1; benign congenital muscular dystrophy; benign autosomal dominant myopathy
Definition	A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.\|Editor note: consider separating type 1 form
Disease Hierarchy	DISLSK9G: Congenital myopathy DISV66YX: Progressive muscular dystrophy DISKY7OY: Congenital muscular dystrophy DISVF5K2: Bethlem myopathy
Disease Identifiers	MONDO ID MONDO_0008029 MESH ID C535436 UMLS CUI C1834674 OMIM ID 158810 MedGen ID 331805 Orphanet ID 610 SNOMED CT ID 718572004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL6A3	TT5WCAH	Supportive	Autosomal dominant	[1]
COL6A3	TT5WCAH	Strong	Genetic Variation	[2]
SGCG	TTSMT9W	Strong	Biomarker	[3]
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This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LAMB1	OT6J9LJR	Limited	Altered Expression	[4]
COL12A1	OTHLTV53	Supportive	Autosomal dominant	[5]
COL6A1	OTYKSCOB	Supportive	Autosomal dominant	[1]
COL6A2	OTQC6PPO	Supportive	Autosomal dominant	[1]
COL6A3	OTAS6R6I	Supportive	Autosomal dominant	[1]
COL6A5	OTJT8O80	moderate	Genetic Variation	[6]
CAPN3	OTCHG3YK	Strong	Biomarker	[3]
FKRP	OTMUZ7GH	Strong	Biomarker	[3]
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⏷ Show the Full List of 8 DOT(s)

References

1	Collagen VI-Related Dystrophies. 2004 Jun 25 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2	Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.Gene. 2018 Sep 25;672:165-171. doi: 10.1016/j.gene.2018.06.026. Epub 2018 Jun 9.
3	Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies.Neurology. 2012 Oct 16;79(16):1716-23. doi: 10.1212/WNL.0b013e31826e9b73. Epub 2012 Oct 3.
4	Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy.Neuromuscul Disord. 1999 Jul;9(5):326-9. doi: 10.1016/s0960-8966(99)00022-x.
5	Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Hum Mol Genet. 2014 May 1;23(9):2353-63. doi: 10.1093/hmg/ddt637. Epub 2013 Dec 13.
6	Expression of the collagen VI 5 and 6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.J Invest Dermatol. 2011 Jan;131(1):99-107. doi: 10.1038/jid.2010.284. Epub 2010 Sep 30.