MCID: BTH001
MIFTS: 51

Bethlem Myopathy malady

Neuronal diseases, Muscle diseases categories

Summaries for Bethlem Myopathy

About this section
Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 Bethlem myopathy is a condition that mainly affects skeletal muscles, which are the muscles used for movement. People with this condition experience progressive muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles that can restrict movement. Approximately two-thirds of people with Bethlem myopathy over age 50 will need to use a walker or wheelchair.

MalaCards: Bethlem Myopathy, also known as benign congenital muscular dystrophy, is related to myopathy and muscular dystrophy, and has symptoms including camptodactyly of fingers, myopathy and abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase. An important gene associated with Bethlem Myopathy is COL6A3 (collagen, type VI, alpha 3), and among its related pathways are Protein digestion and absorption and Rho Family GTPases. Affiliated tissues include skeletal muscle and heart.

Wikipedia:63 Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular... more...

Description from OMIM:46 158810

Aliases & Classifications for Bethlem Myopathy

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
bethlem myopathy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

bethlem myopathy 8 9 42 20 22 21 46 10 44 48 60
benign congenital muscular dystrophy 8 21
myopathy, benign congenital, with contractures 42
benign congenital myopathy with contractures 21
muscular dystrophy, benign congenital 42
benign autosomal dominant myopathy 48


External Ids:

Disease Ontology8 DOID:0050663
OMIM46 158810
MESH via Orphanet35 C535436
ICD10 via Orphanet26 G71.0
UMLS via Orphanet61 C1834674

Related Diseases for Bethlem Myopathy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Bethlem Myopathy:



Diseases related to bethlem myopathy

Clinical Features for Bethlem Myopathy

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

158810

Clinical synopsis from OMIM:

158810

Symptoms:

48 (show all 7)
  • camptodactyly of fingers
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy

Drugs & Therapeutics for Bethlem Myopathy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Bethlem Myopathy

Drug clinical trials:

Search ClinicalTrials for Bethlem Myopathy

Search NIH Clinical Center for Bethlem Myopathy

Search CenterWatch for Bethlem Myopathy

Genetic Tests for Bethlem Myopathy

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Bethlem Myopathy:

id Genetic test Affiliating Genes
1 Bethlem Myopathy20 22

Anatomical Context for Bethlem Myopathy

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Bethlem Myopathy:

32
Skeletal muscle, Heart

Animal Models for Bethlem Myopathy or affiliated genes

About this section

Publications for Bethlem Myopathy

About this section
Sources:
50PubMed
See all sources

Articles related to Bethlem Myopathy:

(show all 49)
idTitleAuthorsYear
1
Progressive cardiac dysfunction in bethlem myopathy during pregnancy. (24413245)
2014
2
Bethlem myopathy: pregnancy and delivery. (23832171)
2014
3
Muscle MRI in Bethlem myopathy. (23595177)
2013
4
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. (24163611)
2013
5
Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis. (24339618)
2013
6
Spontaneous keloid formation in patients with Bethlem myopathy. (23170014)
2012
7
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. (21496625)
2011
8
Bethlem myopathy: a study of two families. (20739820)
2010
9
Autosomal recessive Bethlem myopathy. (19949035)
2009
10
Autosomal recessive inheritance of classic Bethlem myopathy. (19884007)
2009
11
A refined diagnostic algorithm for Bethlem myopathy. (18378883)
2008
12
Cardiac involvement in Bethlem myopathy. (17562947)
2007
13
Molecular consequences of dominant Bethlem myopathy collagen VI mutations. (17886299)
2007
14
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. (16278855)
2006
15
Cardiac and pulmonary investigations in Bethlem myopathy. (17101832)
2006
16
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. (15689448)
2005
17
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. (16258657)
2005
18
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. (15955946)
2005
19
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. (15792870)
2005
20
Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. (16447767)
2005
21
Muscle ultrasound in Bethlem myopathy. (14681763)
2003
22
Bethlem myopathy in a black creole pedigree. (19078680)
2002
23
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. (11865138)
2002
24
Muscle MRI findings in a three-generation family affected by Bethlem myopathy. (12401455)
2002
25
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. (11932968)
2002
26
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. (11801404)
2002
27
Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. (11707460)
2002
28
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. (12467756)
2002
29
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. (12374585)
2002
30
Bethlem myopathy in a Taiwanese family. (11480253)
2001
31
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. (11562567)
2001
32
A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding. (10744632)
2000
33
Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. (10407855)
1999
34
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. (10399756)
1999
35
Respiratory muscle involvement in Bethlem myopathy. (9921869)
1999
36
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. (10419498)
1999
37
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. (10219778)
1999
38
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy. (10329467)
1999
39
Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. (9817932)
1998
40
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. (9536084)
1998
41
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. (9580662)
1998
42
Genetic localization of Bethlem myopathy. (8618682)
1996
43
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. (8817344)
1996
44
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. (8782832)
1996
45
Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. (8533815)
1995
46
Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families. (7881296)
1994
47
The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. (1584251)
1992
48
Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy). (2803379)
1989
49
Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy). (3352914)
1988

Genetic Variations for Bethlem Myopathy

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Bethlem Myopathy:

62 (show all 27)
id Symbol AA change Variation ID SNP ID
1COL6A1p.Lys121ArgVAR_013580
2COL6A1p.Gly305ValVAR_013581
3COL6A1p.Gly341AspVAR_013582
4COL6A1p.Ser116AsnVAR_058213rs11553519
5COL6A1p.Gly272AspVAR_058214
6COL6A1p.Pro274LeuVAR_058215
7COL6A1p.Gly275ArgVAR_058216
8COL6A1p.Gly290ArgVAR_058219
9COL6A1p.Gly341ValVAR_058221
10COL6A1p.Lys571ThrVAR_058222
11COL6A2p.Gly271SerVAR_013589
12COL6A2p.Asp621AsnVAR_013590
13COL6A2p.Glu106LysVAR_058225rs141703710
14COL6A2p.Gly700SerVAR_058231
15COL6A2p.Cys777ArgVAR_058233
16COL6A2p.Arg853GlnVAR_058237rs144830948
17COL6A2p.Pro932LeuVAR_058241
18COL6A3p.Gly1679GluVAR_001910
19COL6A3p.Lys1014GluVAR_058248
20COL6A3p.Glu1386LysVAR_058250rs146092501
21COL6A3p.Asn1467AspVAR_058252
22COL6A3p.Leu1726ArgVAR_058257
23COL6A3p.Val1985MetVAR_058258
24COL6A3p.Gly2047AspVAR_058259
25COL6A3p.Gly2056ArgVAR_058260
26COL6A3p.Gly2080AspVAR_058261
27COL6A3p.Ala2941ValVAR_058264rs11903206

Expression for genes affiliated with Bethlem Myopathy

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Bethlem Myopathy

Search GEO for disease gene expression data for Bethlem Myopathy.

Pathways for genes affiliated with Bethlem Myopathy

About this section
Sources:
29KEGG, 51QIAGEN, 37NCBI BioSystems Database, 53Reactome
See all sources

Pathways related to Bethlem Myopathy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5COL6A3, COL6A1, COL6A2
2
Hide members
9.0LAMB1, COL6A2, COL6A3, COL6A1
3
Hide members
9.0COL6A2, COL6A3, COL6A1, LAMB1
4
Hide members
9.0LAMB1, COL6A1, COL6A2, COL6A3
59.0COL6A3, COL6A1, LAMB1, COL6A2
6
Hide members
9.0COL6A1, LAMB1, COL6A2, COL6A3
7
Hide members
8.9COL6A2, COL6A5, COL6A3, COL6A1
8
Hide members
8.9COL6A2, COL6A1, COL6A3, COL6A5
9
Hide members
8.9COL6A3, COL6A2, COL6A5, COL6A1
10
Hide members
8.9COL6A2, COL6A1, COL6A3, COL6A5
11
Hide members
8.9COL6A1, COL6A3, COL6A5, COL6A2
12
Hide members
8.4LAMB1, COL6A1, COL6A3, COL6A5, COL6A2
13
Hide members
8.0LAMB1, COL6A1, DMD, COL6A2, COL6A3, COL6A5

Compounds for genes affiliated with Bethlem Myopathy

About this section

GO Terms for genes affiliated with Bethlem Myopathy

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Bethlem Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type VIGO:0055899.9COL6A1, COL6A3
2collagenGO:0055819.5COL6A2, COL6A5
3protein complexGO:0432349.3DMD, COL6A1, COL6A2
4sarcolemmaGO:0423839.2DMD, COL6A1, COL6A3, COL6A2
5endoplasmic reticulum lumenGO:0057889.1COL6A3, COL6A1, FKBP14, COL6A2
6extracellular matrixGO:0310128.5COL6A5, COL6A3, COL6A1, COL6A2, LAMB1
7extracellular regionGO:0055768.1COL6A2, COL6A5, COL6A3, COL6A1, LAMB1

Biological processes related to Bethlem Myopathy according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:0075179.8COL6A3, DMD
2protein heterotrimerizationGO:0702089.7COL6A1, COL6A2
3collagen catabolic processGO:0305749.0COL6A1, COL6A3, COL6A2, COL6A5
4axon guidanceGO:0074119.0LAMB1, COL6A1, COL6A3, COL6A2
5extracellular matrix disassemblyGO:0226179.0COL6A2, COL6A1, COL6A3, COL6A5
6cell adhesionGO:0071558.4COL6A5, COL6A3, COL6A1, LAMB1
7extracellular matrix organizationGO:0301988.1COL6A5, COL6A3, COL6A1, DMD, LAMB1, COL6A2

Molecular functions related to Bethlem Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.6LAMB1, COL6A2
2peptidyl-prolyl cis-trans isomerase activityGO:0037559.2FKBP14, PPIF

Products for genes affiliated with Bethlem Myopathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bethlem Myopathy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet