Bethlem Myopathy 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Bethlem Myopathy 1

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11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Bethlem Myopathy 1:

Name: Bethlem Myopathy 1 52 70 27
Bethlem Myopathy 11 48 24 54 70 12 50 13 68
Myopathy, Benign Congenital, with Contractures 48 70
Muscular Dystrophy, Benign Congenital 48 70
Benign Congenital Myopathy with Contractures 24
Benign Congenital Muscular Dystrophy 11
Benign Autosomal Dominant Myopathy 54
Bthlm1 70


Orphanet epidemiological data:

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




External Ids:

OMIM52 158810
Disease Ontology11 DOID:0050663
Orphanet54 ORPHA610
MESH via Orphanet40 C535436
UMLS via Orphanet69 C1834674
ICD10 via Orphanet31 G71.0
MedGen37 C1834674
MeSH39 D009136

Summaries for Bethlem Myopathy 1

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NIH Rare Diseases:48 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 1, also known as bethlem myopathy, is related to ullrich congenital muscular dystrophy 1 and bethlem myopathy 2, and has symptoms including limitation of joint mobility, myopathy and emg abnormality. An important gene associated with Bethlem Myopathy 1 is COL6A3 (Collagen Type VI Alpha 3 Chain), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and NCAM1 interactions. Related mouse phenotypes are Increased gamma-H2AX phosphorylation and muscle.

UniProtKB/Swiss-Prot:70 Bethlem myopathy 1: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.

Wikipedia:71 Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular... more...

Description from OMIM:52 158810

Related Diseases for Bethlem Myopathy 1

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Diseases in the Bethlem Myopathy 1 family:

Bethlem Myopathy 2

Diseases related to Bethlem Myopathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1ullrich congenital muscular dystrophy 129.0CAPN3, COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
2bethlem myopathy 212.3
3collagen vi-related myopathy11.3
4ullrich congenital muscular dystrophy 210.9
5ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.9
7cataract 9, multiple types10.5COL6A1, COL6A2
8muscular dystrophy10.5
9dystonia 2710.3COL6A1, COL6A2, COL6A3
10congenital hepatic fibrosis10.3COL6A1, COL6A2, COL6A3
11cerebellar agenesis10.3DMD, DYSF
12myelodysplastic myeloproliferative cancer10.3COL6A1, COL6A2, COL6A3
13cataract10.2CAPN3, DYSF
14miyoshi muscular dystrophy 110.2CAPN3, DYSF
15dystrophinopathies10.2CAPN3, DYSF
16segawa syndrome, recessive10.1DMD, DYSF
18myopathy, distal, 410.1DMD, DYSF
19fletcher factor deficiency10.0CAPN3, DMD
20limb-girdle muscular dystrophy10.0
21adrenal gland hyperfunction10.0ANO5, DYSF
22microcephaly and chorioretinopathy 110.0DMD, DYSF, LMNA
23cubitus valgus with mental retardation and unusual facies9.9DMD, LAMA2
24schindler disease9.9DMD, DYSF, SGCG
25becker muscular dystrophy9.9
28benign autosomal dominant myopathy9.9
29keloid formation9.9
31extraosseous ewing's sarcoma9.9COL6A1, COL6A2, COL6A3, DYSF
32muscular dystrophy-dystroglycanopathy , type b, 49.9DMD, LAMA2
33autoimmune disease of skin and connective tissue9.8DMD, LMNA
34thrombocytopenia, x-linked9.6DMD, DYSF, LAMA2
35ectodermal dysplasia9.4DMD, LAMA2, LMNA
36muscular dystrophy, congenital9.0COL6A1, COL6A2, COL6A3, DMD, LAMA2, LMNA
37emery-dreifuss muscular dystrophy9.0ANO5, CAPN3, DYSF, LMNA, SGCG
38classic variant of chromophobe renal cell carcinoma8.3ANO5, CAPN3, DMD, DYSF, LAMA2, SGCG
39median arcuate ligament syndrome7.5ANO5, CAPN3, COL6A2, COL6A3, DMD, DYSF

Graphical network of the top 20 diseases related to Bethlem Myopathy 1:

Diseases related to bethlem myopathy 1

Symptoms & Phenotypes for Bethlem Myopathy 1

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Bethlem Myopathy 1:

 64 54 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limitation of joint mobility64 hallmark (90%) HP:0001376
2 myopathy64 54 hallmark (90%) Very frequent (99-80%) HP:0003198
3 emg abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0003457
4 decreased body weight64 hallmark (90%) HP:0004325
5 camptodactyly of finger64 54 hallmark (90%) Very frequent (99-80%) HP:0100490
6 torticollis64 HP:0000473
7 motor delay64 HP:0001270
8 neonatal hypotonia64 HP:0001319
9 decreased fetal movement64 HP:0001558
10 abnormality of the cardiovascular system64 HP:0001626
11 distal muscle weakness64 HP:0002460
12 respiratory insufficiency due to muscle weakness64 HP:0002747
13 elbow flexion contracture64 HP:0002987
14 elevated serum creatine phosphokinase64 HP:0003236
15 limb-girdle muscle weakness64 HP:0003325
16 proximal muscle weakness64 HP:0003701
17 congenital muscular torticollis64 HP:0005988
18 ankle contracture64 HP:0006466
19 joint stiffness54 Very frequent (99-80%)
20 cachexia54 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Bethlem Myopathy 1 according to GeneCards Suite gene sharing:

idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00053-A8.1ANO5, COL6A1, COL6A3, DMD, DYSF, LAMA2

MGI Mouse Phenotypes related to Bethlem Myopathy 1 according to GeneCards Suite gene sharing:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.5CAPN3, COL12A1, COL6A1, COL6A3, DMD, DYSF
2MP:00053787.5ADAMTS18, CAPN3, COL12A1, COL6A2, COL6A3, DMD
3MP:00053907.3ADAMTS18, COL12A1, COL6A3, DMD, LAMA2, LMNA

Drugs & Therapeutics for Bethlem Myopathy 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Low Protein Diet in Patients With Collagen VI Related MyopathiesCompletedNCT01438788Phase 2
2The Effect of Aerobic Exercise, on Fitness and Functional Muscle Strength, in Patients With Muscular DystrophyCompletedNCT01895283
3Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Bethlem Myopathy 1

Genetic Tests for Bethlem Myopathy 1

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Genetic tests related to Bethlem Myopathy 1:

id Genetic test Affiliating Genes
1 Bethlem Myopathy 127
2 Bethlem Myopathy24

Anatomical Context for Bethlem Myopathy 1

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Publications for Bethlem Myopathy 1

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Variations for Bethlem Myopathy 1

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UniProtKB/Swiss-Prot genetic disease variations for Bethlem Myopathy 1:

70 (show all 25)
id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Bethlem Myopathy 1:

5 (show all 64)
id Gene Variation Type Significance SNP ID Assembly Location
1COL6A3NM_004369.3(COL6A3): c.5036G> A (p.Gly1679Glu)SNVLikely pathogenic, Pathogenicrs121434553GRCh37Chr 2, 238275794: 238275794
2COL6A3COL6A3, IVS15DS, GT-TC, +1undetermined variantPathogenicChr na, -1: -1
3COL6A3NM_004369.3(COL6A3): c.5177T> G (p.Leu1726Arg)SNVPathogenicrs121434555GRCh37Chr 2, 238275653: 238275653
4COL6A2NM_001849.3(COL6A2): c.811G> A (p.Gly271Ser)SNVPathogenicrs121912940GRCh37Chr 21, 47535795: 47535795
5COL6A2NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn)SNVPathogenicrs267606750GRCh37Chr 21, 47545423: 47545423
6COL6A2COL6A2, IVS10AS, A-G, -2SNVPathogenicChr na, -1: -1
7COL6A1NM_001848.2(COL6A1): c.1577G> T (p.Gly526Val)SNVPathogenicrs121912934GRCh37Chr 21, 47418313: 47418313
8COL6A1COL6A1, IVS11AS, G-A, -1SNVPathogenicChr na, -1: -1
9COL6A1NM_001848.2(COL6A1): c.1003_1056del54SNVPathogenicrs797044456GRCh38Chr 21, 45990828: 45990828
10COL6A1NM_001848.2(COL6A1): c.1022G> A (p.Gly341Asp)SNVPathogenicrs121912935GRCh37Chr 21, 47410706: 47410706
11COL6A1NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg)SNVPathogenicrs121912936GRCh37Chr 21, 47404317: 47404317
12COL6A1NM_001848.2(COL6A1): c.1003_1056del54SNVPathogenicrs398123631GRCh37Chr 21, 47410741: 47410741
13COL6A1COL6A1, IVS3DS, G-A, +1SNVPathogenicChr na, -1: -1
14COL6A1NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg)SNVPathogenicrs121912938GRCh37Chr 21, 47409043: 47409043
15COL6A1NM_001848.2(COL6A1): c.904G> C (p.Gly302Arg)SNVPathogenicrs794727028GRCh37Chr 21, 47409666: 47409666
16COL6A1NM_001848.2(COL6A1): c.957+2T> CSNVPathogenicrs794727060GRCh37Chr 21, 47410200: 47410200
17COL6A1NM_001848.2(COL6A1): c.1013G> A (p.Gly338Glu)SNVPathogenicrs794727121GRCh37Chr 21, 47410697: 47410697
18COL6A3NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp)SNVPathogenicrs794727188GRCh37Chr 2, 238268774: 238268774
19COL6A3NM_004369.3(COL6A3): c.6293G> T (p.Gly2098Val)SNVPathogenicrs794727206GRCh37Chr 2, 238268021: 238268021
20COL6A3NM_004369.3(COL6A3): c.7447A> G (p.Lys2483Glu)SNVPathogenicrs139260335GRCh37Chr 2, 238253214: 238253214
21COL6A2NM_001849.3(COL6A2): c.801+1G> ASNVPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
22COL6A2NM_001849.3(COL6A2): c.812G> A (p.Gly271Asp)SNVPathogenicrs794727788GRCh37Chr 21, 47535796: 47535796
23COL6A2NM_001849.3(COL6A2): c.875G> T (p.Gly292Val)SNVPathogenicrs794727855GRCh37Chr 21, 47535942: 47535942
24COL6A2NM_001849.3(COL6A2): c.2096G> A (p.Gly699Asp)SNVLikely pathogenicrs863224861GRCh38Chr 21, 46125911: 46125911
25COL6A2NM_001849.3(COL6A2): c.954G> T (p.Lys318Asn)SNVLikely pathogenicrs878854362GRCh37Chr 21, 47536591: 47536591
26COL6A3NM_004369.3(COL6A3): c.7264C> T (p.Arg2422Ter)SNVLikely pathogenicrs878854379GRCh37Chr 2, 238253397: 238253397
27COL6A1NM_001848.2(COL6A1): c.1425delA (p.Gly476Alafs)deletionLikely pathogenic, Pathogenicrs878854398GRCh38Chr 21, 45997447: 45997447
28COL6A1NM_001848.2(COL6A1): c.931-1G> ASNVPathogenicrs886042354GRCh37Chr 21, 47410171: 47410171
29COL6A3NM_004369.3(COL6A3): c.5010T> A (p.Tyr1670Ter)SNVPathogenicrs886042402GRCh37Chr 2, 238275820: 238275820
30COL6A1NM_001848.2(COL6A1): c.1022G> T (p.Gly341Val)SNVPathogenicrs121912935GRCh37Chr 21, 47410706: 47410706
31COL6A3NM_004369.3(COL6A3): c.4124delA (p.Gln1375Argfs)deletionPathogenicrs886042447GRCh37Chr 2, 238280536: 238280536
32COL6A2NM_001849.3(COL6A2): c.920G> T (p.Gly307Val)SNVLikely pathogenicrs886042541GRCh37Chr 21, 47536310: 47536310
33COL6A3NM_004369.3(COL6A3): c.7796_7797delTT (p.Phe2599Trpfs)deletionPathogenicrs886042623GRCh37Chr 2, 238249762: 238249763
34COL6A2NM_001849.3(COL6A2): c.901G> A (p.Gly301Ser)SNVPathogenicrs886042705GRCh37Chr 21, 47536291: 47536291
35COL6A1NM_001848.2(COL6A1): c.1611+1G> ASNVPathogenicrs886042748GRCh37Chr 21, 47418348: 47418348
36COL6A1NM_001848.2(COL6A1): c.930+1G> ASNVPathogenicrs886042902GRCh37Chr 21, 47409693: 47409693
37COL6A3NM_004369.3(COL6A3): c.6175G> T (p.Gly2059Cys)SNVPathogenicrs758124326GRCh37Chr 2, 238269799: 238269799
38COL6A2NM_001849.3(COL6A2): c.785G> A (p.Gly262Asp)SNVPathogenicrs886042943GRCh37Chr 21, 47533971: 47533971
39COL6A1NM_001848.2(COL6A1): c.928_930delAAG (p.Lys310del)deletionPathogenicrs886043114GRCh37Chr 21, 47409690: 47409692
40COL6A2NM_001849.3(COL6A2): c.1053+1G> ASNVPathogenicrs886043187GRCh37Chr 21, 47537368: 47537368
41COL6A2NM_001849.3(COL6A2): c.865G> T (p.Gly289Cys)SNVPathogenicrs886043270GRCh37Chr 21, 47535932: 47535932
42COL6A1NM_001848.2(COL6A1): c.1039_1052delGGCTCGCCCGGGTT (p.Gly347Terfs)deletionPathogenicrs886043291GRCh37Chr 21, 47410723: 47410736
43COL6A1NM_001848.2(COL6A1): c.1021G> T (p.Gly341Cys)SNVPathogenicrs886043321GRCh37Chr 21, 47410705: 47410705
44COL6A2NM_001849.3(COL6A2): c.838G> C (p.Gly280Arg)SNVLikely pathogenicrs886043323GRCh37Chr 21, 47535822: 47535822
45COL6A1NM_001848.2(COL6A1): c.1003-1G> ASNVPathogenicrs886043330GRCh37Chr 21, 47410686: 47410686
46COL6A2NM_001849.3(COL6A2): c.801+1G> TSNVPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
47COL6A3NM_004369.3(COL6A3): c.761delG (p.Gly254Glufs)deletionPathogenicrs780921503GRCh37Chr 2, 238296776: 238296776
48COL6A1NM_001848.2(COL6A1): c.1002+1G> TSNVPathogenicrs886043700GRCh37Chr 21, 47410337: 47410337
49COL6A1NM_001848.2(COL6A1): c.1002+1G> ASNVPathogenicrs886043700GRCh37Chr 21, 47410337: 47410337
50COL6A2NM_001849.3(COL6A2): c.1054-2A> GSNVPathogenicrs886044023GRCh37Chr 21, 47537786: 47537786
51COL6A2NM_001849.3(COL6A2): c.1053+2delTdeletionPathogenicrs886044140GRCh37Chr 21, 47537369: 47537369
52COL6A1NM_001848.2(COL6A1): c.932G> A (p.Gly311Asp)SNVPathogenicrs886044231GRCh37Chr 21, 47410173: 47410173
53COL6A1NM_001848.2(COL6A1): c.931-1G> CSNVLikely pathogenicrs886042354GRCh37Chr 21, 47410171: 47410171
54COL6A2NM_001849.3(COL6A2): c.1396-11_1396-2delCTTTCTTCCAdeletionPathogenicrs886044484GRCh37Chr 21, 47540964: 47540973
55COL6A2NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter)SNVPathogenicrs387906609GRCh37Chr 21, 47537830: 47537830
56COL6A2NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn)SNVLikely pathogenic, Pathogenicrs387906610GRCh37Chr 21, 47552017: 47552017
57COL6A1NM_001848.2(COL6A1): c.805-2A> GSNVPathogenicrs398123639GRCh37Chr 21, 47408996: 47408996
58COL6A1NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg)SNVPathogenicrs121912939GRCh37Chr 21, 47409531: 47409531
59COL6A2NM_001849.3(COL6A2): c.1461delA (p.Ser488Leufs)deletionPathogenicrs398123645GRCh37Chr 21, 47541472: 47541472
60COL6A2NM_001849.3(COL6A2): c.1522-1G> ASNVPathogenicrs398123646GRCh37Chr 21, 47542021: 47542021
61COL6A2NM_001849.3(COL6A2): c.855+2T> GSNVPathogenicrs113525292GRCh37Chr 21, 47535841: 47535841
62COL6A3NM_004369.3(COL6A3): c.175C> T (p.Arg59Ter)SNVPathogenicrs398124119GRCh37Chr 2, 238303764: 238303764
63COL6A3NM_004369.3(COL6A3): c.6210+1G> ASNVPathogenicrs398124126GRCh37Chr 2, 238269763: 238269763
64COL6A3NM_004369.3(COL6A3): c.6282+1G> ASNVPathogenicrs398124128GRCh37Chr 2, 238268730: 238268730

Copy number variations for Bethlem Myopathy 1 from CNVD:

id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
142157102960000038000000DulITGB1Bethlem myopathy

Expression for genes affiliated with Bethlem Myopathy 1

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Search GEO for disease gene expression data for Bethlem Myopathy 1.

Pathways for genes affiliated with Bethlem Myopathy 1

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GO Terms for genes affiliated with Bethlem Myopathy 1

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Cellular components related to Bethlem Myopathy 1 according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1collagen type VI trimerGO:000558910.7COL6A1, COL6A3
2myofibrilGO:003001610.5CAPN3, DMD
3collagen trimerGO:000558110.4COL6A2, COL6A3, COL6A5
4extracellular vesicleGO:190356110.3COL12A1, COL6A2, COL6A3
5endoplasmic reticulum lumenGO:000578810.1COL12A1, COL6A1, COL6A2, COL6A3
6protein complexGO:00432349.9CAPN3, COL6A1, COL6A2, DMD
7T-tubuleGO:00303159.6CAPN3, DYSF
8proteinaceous extracellular matrixGO:00055789.4ADAMTS18, COL6A1, COL6A2, COL6A3, COL6A5
9extracellular regionGO:00055768.9COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
10extracellular matrixGO:00310128.6COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
11sarcolemmaGO:00423838.0COL6A1, COL6A2, COL6A3, DMD, DYSF, LAMA2

Biological processes related to Bethlem Myopathy 1 according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1endodermal cell differentiationGO:003598710.5COL12A1, COL6A1
2muscle cell cellular homeostasisGO:004671610.3CAPN3, DMD
3protein heterotrimerizationGO:00702089.9COL6A1, COL6A2
4collagen catabolic processGO:00305749.7COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
5extracellular matrix organizationGO:00301989.4COL6A1, COL6A2, COL6A3, LAMA2
6cell adhesionGO:00071558.8COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
7muscle organ developmentGO:00075178.5CAPN3, COL6A3, DMD, LAMA2, SGCG

Molecular functions related to Bethlem Myopathy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.8CAPN3, DMD

Sources for Bethlem Myopathy 1

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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet