MCID: BTH001
MIFTS: 52

Bethlem Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Bethlem Myopathy

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NIH Rare Diseases:43 Bethlem myopathy is an inherited movement disorder characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles. due to a progressive course, up to two-thirds of people with this condition require a walker or wheelchair after the age of 50. bethlem myopathy is caused by mutations in the col6a1, col6a2, and col6a3 genes. most cases are inherited in an autosomal dominant pattern and occur as the result of a new mutation. in rare cases, the disease follows an autosomal recessive pattern of inheritance. treatment depends upon individual symptoms, but routinely involves physical therapy. surgery or other measures may be undertaken as needed. last updated: 2/4/2015

MalaCards based summary: Bethlem Myopathy, also known as benign congenital muscular dystrophy, is related to myopathy and muscular dystrophy, and has symptoms including limitation of joint mobility, myopathy and emg abnormality. An important gene associated with Bethlem Myopathy is COL6A3 (collagen, type VI, alpha 3), and among its related pathways are Non-integrin membrane-ECM interactions and Protein digestion and absorption. Affiliated tissues include skeletal muscle and heart.

Genetics Home Reference:23 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.

Wikipedia:65 Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular... more...

Description from OMIM:47 158810

Aliases & Classifications for Bethlem Myopathy

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Bethlem Myopathy, Aliases & Descriptions:

Name: Bethlem Myopathy 47 10 11 43 22 23 12 45 49 24 62
Benign Congenital Muscular Dystrophy 10 23 62
Benign Congenital Myopathy with Contractures 23 62
 
Benign Autosomal Dominant Myopathy 43 49
Myopathy, Benign Congenital, with Contractures 43
Muscular Dystrophy, Benign Congenital 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
bethlem myopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy


External Ids:

OMIM47 158810
Disease Ontology10 DOID:0050663
Orphanet49 610
MESH via Orphanet36 C535436
ICD10 via Orphanet28 G71.0
UMLS via Orphanet63 C1834674

Related Diseases for Bethlem Myopathy

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Diseases related to Bethlem Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.5DMD, LAMB1, COL6A1, COL6A3, COL6A2
2muscular dystrophy31.1DMD, LAMB1, COL6A2
3ullrich congenital muscular dystrophy31.0COL6A1, COL6A3, COL6A2
4keloids10.4
5limb-girdle muscular dystrophy10.4
6hypotonia10.2
7becker muscular dystrophy10.2
8calpainopathy10.2
9benign autosomal dominant myopathy10.2
10keloid formation10.2
11sarcoglycanopathies10.2
12neuropathy10.0COL6A2, DMD
13collagen type vi-related disorders10.0COL6A2, COL6A3, COL6A1
14down syndrome10.0COL6A2, COL6A3, COL6A1

Graphical network of diseases related to Bethlem Myopathy:



Diseases related to bethlem myopathy

Symptoms for Bethlem Myopathy

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Symptoms by clinical synopsis from OMIM:

158810

Clinical features from OMIM:

158810

Symptoms:

 49 (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

HPO human phenotypes related to Bethlem Myopathy:

(show all 24)
id Description Frequency HPO Source Accession
1 limitation of joint mobility hallmark (90%) HP:0001376
2 myopathy hallmark (90%) HP:0003198
3 emg abnormality hallmark (90%) HP:0003457
4 decreased body weight hallmark (90%) HP:0004325
5 camptodactyly of finger hallmark (90%) HP:0100490
6 autosomal dominant inheritance HP:0000006
7 autosomal recessive inheritance HP:0000007
8 torticollis HP:0000473
9 motor delay HP:0001270
10 neonatal hypotonia HP:0001319
11 decreased fetal movement HP:0001558
12 abnormality of the cardiovascular system HP:0001626
13 distal muscle weakness HP:0002460
14 respiratory insufficiency due to muscle weakness HP:0002747
15 elbow flexion contracture HP:0002987
16 myopathy HP:0003198
17 elevated serum creatine phosphokinase HP:0003236
18 limb-girdle muscle weakness HP:0003325
19 slow progression HP:0003677
20 proximal muscle weakness HP:0003701
21 variable expressivity HP:0003828
22 congenital muscular torticollis HP:0005988
23 ankle contracture HP:0006466
24 camptodactyly of finger HP:0100490

Drugs & Therapeutics for Bethlem Myopathy

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Drug clinical trials:

Search ClinicalTrials for Bethlem Myopathy

Search NIH Clinical Center for Bethlem Myopathy

Genetic Tests for Bethlem Myopathy

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Genetic tests related to Bethlem Myopathy:

id Genetic test Affiliating Genes
1 Bethlem Myopathy22 24

Anatomical Context for Bethlem Myopathy

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MalaCards organs/tissues related to Bethlem Myopathy:

33
Skeletal muscle, Heart

Animal Models for Bethlem Myopathy or affiliated genes

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Publications for Bethlem Myopathy

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Articles related to Bethlem Myopathy:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing. (25749816)
2015
2
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI I+2(VI) chain. (25533456)
2015
3
Detecting Collagen VI in Bethlem Myopathy. (25795730)
2015
4
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. (25477819)
2014
5
Progressive cardiac dysfunction in bethlem myopathy during pregnancy. (24413245)
2014
6
Bethlem myopathy: pregnancy and delivery. (23832171)
2014
7
Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. (25477818)
2014
8
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. (25535305)
2014
9
Muscle MRI in Bethlem myopathy. (23595177)
2013
10
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. (24163611)
2013
11
Spontaneous keloid formation in patients with Bethlem myopathy. (23170014)
2012
12
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. (21496625)
2011
13
Bethlem myopathy: a study of two families. (20739820)
2010
14
Autosomal recessive Bethlem myopathy. (19949035)
2009
15
Autosomal recessive inheritance of classic Bethlem myopathy. (19884007)
2009
16
A refined diagnostic algorithm for Bethlem myopathy. (18378883)
2008
17
Cardiac involvement in Bethlem myopathy. (17562947)
2007
18
Molecular consequences of dominant Bethlem myopathy collagen VI mutations. (17886299)
2007
19
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. (16278855)
2006
20
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. (15689448)
2005
21
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. (16258657)
2005
22
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. (15955946)
2005
23
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. (15792870)
2005
24
Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. (16447767)
2005
25
Bethlem myopathy in a black creole pedigree. (19078680)
2002
26
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. (11865138)
2002
27
Muscle MRI findings in a three-generation family affected by Bethlem myopathy. (12401455)
2002
28
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. (11932968)
2002
29
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. (11801404)
2002
30
Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. (11707460)
2002
31
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. (12467756)
2002
32
Bethlem myopathy in a Taiwanese family. (11480253)
2001
33
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. (11562567)
2001
34
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
35
Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. (10407855)
1999
36
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
37
Respiratory muscle involvement in Bethlem myopathy. (9921869)
1999
38
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. (10419498)
1999
39
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. (10219778)
1999
40
Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. (9817932)
1998
41
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
42
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. (9580662)
1998
43
Genetic localization of Bethlem myopathy. (8618682)
1996
44
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. (8817344)
1996
45
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. (8782832)
1996
46
Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. (8533815)
1995
47
Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families. (7881296)
1994
48
The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. (1584251)
1992
49
Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy). (2803379)
1989
50
Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy). (3352914)
1988

Variations for Bethlem Myopathy

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UniProtKB/Swiss-Prot genetic disease variations for Bethlem Myopathy:

64 (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

Clinvar genetic disease variations for Bethlem Myopathy:

7 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1COL6A3NM_004369.3(COL6A3): c.5036G> A (p.Gly1679Glu)single nucleotide variantPathogenicrs121434553GRCh37Chr 2, 238275794: 238275794
2COL6A3COL6A3, IVS15DS, GT-TC, +1undetermined variantPathogenic
3COL6A3NM_004369.3(COL6A3): c.5177T> G (p.Leu1726Arg)single nucleotide variantPathogenicrs121434555GRCh37Chr 2, 238275653: 238275653
4COL6A2NM_001849.3(COL6A2): c.811G> A (p.Gly271Ser)single nucleotide variantPathogenicrs121912940GRCh37Chr 21, 47535795: 47535795
5COL6A2NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn)single nucleotide variantPathogenicrs267606750GRCh37Chr 21, 47545423: 47545423
6COL6A2COL6A2, IVS10AS, A-G, -2single nucleotide variantPathogenic
7COL6A2NM_001849.3(COL6A2): c.2795C> T (p.Pro932Leu)single nucleotide variantPathogenicrs117725825GRCh37Chr 21, 47552201: 47552201
8COL6A1NM_001848.2(COL6A1): c.1577G> T (p.Gly526Val)single nucleotide variantPathogenicrs121912934GRCh37Chr 21, 47418313: 47418313
9COL6A1COL6A1, IVS11AS, G-A, -1single nucleotide variantPathogenic
10COL6A1COL6A1, IVS14DS, T-C, +2single nucleotide variantPathogenic
11COL6A1NM_001848.2(COL6A1): c.1022G> A (p.Gly341Asp)single nucleotide variantPathogenicrs121912935GRCh37Chr 21, 47410706: 47410706
12COL6A1NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg)single nucleotide variantPathogenicrs121912936GRCh37Chr 21, 47404317: 47404317
13COL6A1COL6A1, IVS14DS, G-A, +1single nucleotide variantPathogenic
14COL6A1COL6A1, IVS3DS, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Bethlem Myopathy

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Search GEO for disease gene expression data for Bethlem Myopathy.

Pathways for genes affiliated with Bethlem Myopathy

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Pathways related to Bethlem Myopathy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Proteogylcan syndecan-mediated signaling events38
9.3LAMB1, DMD
28.9COL6A1, COL6A3, COL6A2, COL12A1
3
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
8.7LAMB1, COL6A1, COL6A2, COL6A3
48.7COL6A1, COL6A3, COL6A2, LAMB1
5
Show member pathways
8.5COL6A2, COL6A1, COL6A3, COL6A5
6
Show member pathways
8.5COL6A5, COL6A2, COL6A1, COL6A3
7
Show member pathways
8.5COL6A1, COL6A5, COL6A2, COL6A3
8
Show member pathways
8.3COL6A3, LAMB1, COL6A2, COL6A1, COL12A1
9
Show member pathways
8.3COL12A1, COL6A2, LAMB1, COL6A3, COL6A1
10
Show member pathways
8.3LAMB1, COL6A3, COL6A1, COL6A2, COL12A1
11
Show member pathways
8.1COL6A3, COL12A1, COL6A5, COL6A2, COL6A1
12
Show member pathways
7.9COL6A2, COL6A5, COL6A3, COL6A1, LAMB1
13
Show member pathways
6.9COL6A5, COL6A2, COL12A1, COL6A3, COL6A1, LAMB1

Compounds for genes affiliated with Bethlem Myopathy

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GO Terms for genes affiliated with Bethlem Myopathy

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

idNameGO IDScoreTop Affiliating Genes
1collagen type VIGO:00055899.8COL6A3, COL6A1
2collagenGO:00055819.2COL6A2, COL6A5
3protein complexGO:00432349.1COL6A2, COL6A1, DMD
4endoplasmic reticulum lumenGO:00057889.0COL6A2, COL12A1, COL6A3, COL6A1
5sarcolemmaGO:00423839.0DMD, COL6A1, COL6A3, COL6A2
6extracellular spaceGO:00056158.3LAMB1, COL6A3, COL12A1, COL6A2
7extracellular vesicular exosomeGO:00700628.3LAMB1, COL6A1, COL6A3, COL12A1, COL6A2
8extracellular matrixGO:00310127.6COL6A2, COL6A5, COL12A1, COL6A3, COL6A1, LAMB1
9extracellular regionGO:00055767.6LAMB1, COL6A1, COL6A3, COL12A1, COL6A5, COL6A2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.6COL6A3, DMD
2protein heterotrimerizationGO:00702089.4COL6A2, COL6A1
3axon guidanceGO:00074118.6LAMB1, COL6A1, COL6A3, COL6A2
4collagen catabolic processGO:00305748.1COL6A1, COL6A3, COL12A1, COL6A5, COL6A2
5extracellular matrix disassemblyGO:00226177.6LAMB1, COL6A1, COL6A3, COL12A1, COL6A5, COL6A2
6cell adhesionGO:00071557.4LAMB1, COL6A1, COL6A3, COL12A1, COL6A5, COL6A2
7extracellular matrix organizationGO:00301987.1COL6A2, DMD, LAMB1, COL6A1, COL6A3, COL12A1

Products for genes affiliated with Bethlem Myopathy

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Sources for Bethlem Myopathy

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet