MCID: BTH005
MIFTS: 44

Bethlem Myopathy 1 malady

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

Aliases & Classifications for Bethlem Myopathy 1

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Sources:
50OMIM, 68UniProtKB/Swiss-Prot, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Bethlem Myopathy 1:

Name: Bethlem Myopathy 1 50 68
Bethlem Myopathy 11 46 23 13 52 68 25 12 48 66
Myopathy, Benign Congenital, with Contractures 46 68
Muscular Dystrophy, Benign Congenital 46 68
 
Benign Congenital Myopathy with Contractures 23
Benign Congenital Muscular Dystrophy 11
Benign Autosomal Dominant Myopathy 52
Bthlm1 68

Characteristics:

Orphanet epidemiological data:

52
bethlem myopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

62


Classifications:



External Ids:

OMIM50 158810
Disease Ontology11 DOID:0050663
Orphanet52 ORPHA610
ICD10 via Orphanet29 G71.0
MESH via Orphanet38 C535436
UMLS via Orphanet67 C1834674
MedGen35 C1834674
MeSH37 D009136

Summaries for Bethlem Myopathy 1

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NIH Rare Diseases:46 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 COL6A2 (Collagen Type VI Alpha 2 Chain), and among its related pathways are NCAM1 interactions and PI3K-Akt signaling pathway. Related mouse phenotypes are skeleton and growth/size/body region.

UniProtKB/Swiss-Prot:68 Bethlem myopathy 1: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.

Wikipedia:69 Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular... more...

Description from OMIM:50 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 44)
idRelated DiseaseScoreTop Affiliating Genes
1ullrich congenital muscular dystrophy 127.6CAPN3, COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
2bethlem myopathy 212.3
3myopathy10.9
4collagen vi-related myopathy10.6
5muscular dystrophy10.6
6cataract 9, multiple types10.5COL6A1, COL6A2
7dystonia 2710.3COL6A1, COL6A2, COL6A3
8congenital hepatic fibrosis10.3COL6A1, COL6A2, COL6A3
9myelodysplastic myeloproliferative cancer10.3COL6A1, COL6A2, COL6A3
10muscular dystrophy, rigid spine, 110.3DMD, SEPN1
11myopathy, lactic acidosis, and sideroblastic anemia10.3DMD, SEPN1
12keloids10.2
13collagen vi related muscular dystrophy10.2
14chromosomal disease10.2COL6A1, SEPN1
15cerebellar agenesis10.2DMD, DYSF
16baraitser-winter syndrome 210.2DMD, SEPN1
17limb-girdle muscular dystrophy10.1
18fletcher factor deficiency10.1CAPN3, DMD
19cataract10.1CAPN3, DYSF
20segawa syndrome, recessive10.1DMD, DYSF
21miyoshi muscular dystrophy 110.1CAPN3, DYSF
22ullrich congenital muscular dystrophy 210.1
23ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.1
24myopathy, distal, 410.0DMD, DYSF
25dystrophinopathies10.0CAPN3, DYSF
26becker muscular dystrophy10.0
27calpainopathy10.0
28ptosis10.0
29benign autosomal dominant myopathy10.0
30keloid formation10.0
31sarcoglycanopathies10.0
32epilepsy, generalized, with febrile seizures plus, type 110.0DMD, SEPN1
33thrombocytopenia, x-linked9.9DMD, DYSF
34autoimmune disease of skin and connective tissue9.7DMD, LMNA
35cornelia de lange syndrome9.7ANO5, DMD, DYSF
36adrenal gland hyperfunction9.6ANO5, DYSF, SEPN1
37schindler disease9.4DMD, DYSF, SGCG
38microcephaly and chorioretinopathy 19.3DMD, DYSF, LMNA, SEPN1
39extraosseous ewing's sarcoma9.3COL6A1, COL6A2, COL6A3, DYSF, SEPN1
40muscular dystrophy, congenital9.1COL6A1, COL6A2, COL6A3, DMD, LMNA, SEPN1
41emery-dreifuss muscular dystrophy8.4ANO5, CAPN3, DYSF, LMNA, SGCG
42classic variant of chromophobe renal cell carcinoma8.1ANO5, CAPN3, DMD, DYSF, SEPN1, SGCG
43median arcuate ligament syndrome7.1ANO5, CAPN3, COL6A2, COL6A3, DMD, DYSF
44bethlem myopathy 16.1ANO5, CAPN3, COL12A1, COL6A1, COL6A2, COL6A3

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



Diseases related to bethlem myopathy 1

Symptoms for Bethlem Myopathy 1

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Symptoms by clinical synopsis from OMIM:

158810

Clinical features from OMIM:

158810

Symptoms:

 52
  • joint stiffness
  • myopathy
  • emg abnormality
  • cachexia
  • camptodactyly of finger

HPO human phenotypes related to Bethlem Myopathy 1:

(show all 20)
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 torticollis HP:0000473
7 motor delay HP:0001270
8 neonatal hypotonia HP:0001319
9 decreased fetal movement HP:0001558
10 abnormality of the cardiovascular system HP:0001626
11 distal muscle weakness HP:0002460
12 respiratory insufficiency due to muscle weakness HP:0002747
13 elbow flexion contracture HP:0002987
14 myopathy HP:0003198
15 elevated serum creatine phosphokinase HP:0003236
16 limb-girdle muscle weakness HP:0003325
17 proximal muscle weakness HP:0003701
18 congenital muscular torticollis HP:0005988
19 ankle contracture HP:0006466
20 camptodactyly of finger HP:0100490

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 Myopathy25 23

Anatomical Context for Bethlem Myopathy 1

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Animal Models for Bethlem Myopathy 1 or affiliated genes

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MGI Mouse Phenotypes related to Bethlem Myopathy 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.7COL12A1, COL6A3, DMD, LMNA, SEPN1, SGCG
2MP:00053786.7CAPN3, COL12A1, COL6A2, COL6A3, DMD, LMNA
3MP:00053696.5CAPN3, COL12A1, COL6A1, COL6A3, DMD, DYSF

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:

68 (show all 27)
id Symbol AA change Variation ID SNP ID
1COL6A1p.Lys121ArgVAR_013580rs121912936
2COL6A1p.Gly305ValVAR_013581
3COL6A1p.Gly341AspVAR_013582rs121912935
4COL6A1p.Ser116AsnVAR_058213rs11553519
5COL6A1p.Gly272AspVAR_058214
6COL6A1p.Pro274LeuVAR_058215rs201093313
7COL6A1p.Gly275ArgVAR_058216
8COL6A1p.Gly290ArgVAR_058219rs121912939
9COL6A1p.Gly341ValVAR_058221
10COL6A1p.Lys571ThrVAR_058222rs751040647
11COL6A2p.Gly271SerVAR_013589rs121912940
12COL6A2p.Asp621AsnVAR_013590rs267606750
13COL6A2p.Glu106LysVAR_058225rs141703710
14COL6A2p.Gly700SerVAR_058231rs794727418
15COL6A2p.Cys777ArgVAR_058233rs267606747
16COL6A2p.Arg853GlnVAR_058237rs144830948
17COL6A2p.Pro932LeuVAR_058241rs117725825
18COL6A3p.Gly1679GluVAR_001910rs121434553
19COL6A3p.Lys1014GluVAR_058248rs114284669
20COL6A3p.Glu1386LysVAR_058250rs146092501
21COL6A3p.Asn1467AspVAR_058252rs138049094
22COL6A3p.Leu1726ArgVAR_058257rs121434555
23COL6A3p.Val1985MetVAR_058258rs200478135
24COL6A3p.Gly2047AspVAR_058259
25COL6A3p.Gly2056ArgVAR_058260
26COL6A3p.Gly2080AspVAR_058261rs794727188
27COL6A3p.Ala2941ValVAR_058264rs11903206

Clinvar genetic disease variations for Bethlem Myopathy 1:

5 (show all 33)
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
10COL6A1NM_001848.2(COL6A1): c.1003_1056del54single nucleotide variantPathogenicrs797044456GRCh38Chr 21, 45990828: 45990828
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
13COL6A1NM_001848.2(COL6A1): c.1003_1056del54single nucleotide variantPathogenicrs398123631GRCh37Chr 21, 47410741: 47410741
14COL6A1COL6A1, IVS3DS, G-A, +1single nucleotide variantPathogenic
15COL6A1NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg)single nucleotide variantPathogenicrs121912938GRCh37Chr 21, 47409043: 47409043
16COL6A1NM_001848.2(COL6A1): c.957+2T> Csingle nucleotide variantPathogenicrs794727060GRCh37Chr 21, 47410200: 47410200
17COL6A3NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp)single nucleotide variantPathogenicrs794727188GRCh37Chr 2, 238268774: 238268774
18COL6A3NM_004369.3(COL6A3): c.6293G> T (p.Gly2098Val)single nucleotide variantPathogenicrs794727206GRCh37Chr 2, 238268021: 238268021
19COL6A2NM_001849.3(COL6A2): c.801+1G> Asingle nucleotide variantPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
20COL6A2NM_001849.3(COL6A2): c.812G> A (p.Gly271Asp)single nucleotide variantPathogenicrs794727788GRCh37Chr 21, 47535796: 47535796
21COL6A2NM_001849.3(COL6A2): c.875G> T (p.Gly292Val)single nucleotide variantPathogenicrs794727855GRCh37Chr 21, 47535942: 47535942
22COL6A3NM_004369.3(COL6A3): c.6283-2A> Csingle nucleotide variantLikely pathogenicrs797044988GRCh37Chr 2, 238268033: 238268033
23COL6A2NM_001849.3(COL6A2): c.2096G> A (p.Gly699Asp)single nucleotide variantLikely pathogenicrs863224861GRCh38Chr 21, 46125911: 46125911
24COL6A2NM_001849.3(COL6A2): c.954G> T (p.Lys318Asn)single nucleotide variantLikely pathogenicrs878854362GRCh37Chr 21, 47536591: 47536591
25COL6A3NM_004369.3(COL6A3): c.7264C> T (p.Arg2422Ter)single nucleotide variantLikely pathogenicrs878854379GRCh38Chr 2, 237344754: 237344754
26COL6A2NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp)single nucleotide variantLikely pathogenicrs397515333GRCh37Chr 21, 47535787: 47535787
27COL6A1NM_001848.2(COL6A1): c.805-2A> Gsingle nucleotide variantPathogenicrs398123639GRCh37Chr 21, 47408996: 47408996
28COL6A1NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg)single nucleotide variantPathogenicrs121912939GRCh37Chr 21, 47409531: 47409531
29COL6A1NM_001848.2(COL6A1): c.877G> A (p.Gly293Arg)single nucleotide variantLikely pathogenicrs398123643GRCh37Chr 21, 47409540: 47409540
30COL6A1NM_001848.2(COL6A1): c.896G> A (p.Gly299Glu)single nucleotide variantLikely pathogenicrs398123644GRCh37Chr 21, 47409559: 47409559
31COL6A2NM_001849.3(COL6A2): c.1461delA (p.Ser488Leufs)deletionPathogenicrs398123645GRCh37Chr 21, 47541472: 47541472
32COL6A2NM_001849.3(COL6A2): c.1522-1G> Asingle nucleotide variantPathogenicrs398123646GRCh37Chr 21, 47542021: 47542021
33COL6A2NM_001849.3(COL6A2): c.855+2T> Gsingle nucleotide variantPathogenicrs113525292GRCh37Chr 21, 47535841: 47535841

Copy number variations for Bethlem Myopathy 1 from CNVD:

6
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:

idNameGO IDScoreTop Affiliating Genes
1collagen type VI trimerGO:000558910.3COL6A1, COL6A3
2T-tubuleGO:003031510.1CAPN3, DYSF
3myofibrilGO:003001610.0CAPN3, DMD
4collagen trimerGO:000558110.0COL6A2, COL6A3, COL6A5
5extracellular vesicleGO:19035619.8COL12A1, COL6A2, COL6A3
6proteinaceous extracellular matrixGO:00055789.4COL6A1, COL6A2, COL6A3, COL6A5
7protein complexGO:00432349.2CAPN3, COL6A1, COL6A2, DMD
8endoplasmic reticulum lumenGO:00057889.0COL12A1, COL6A1, COL6A2, COL6A3
9extracellular matrixGO:00310128.4COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, LMNA
10sarcolemmaGO:00423838.2COL6A1, COL6A2, COL6A3, DMD, DYSF, SGCG

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1protein heterotrimerizationGO:007020810.4COL6A1, COL6A2
2endodermal cell differentiationGO:003598710.3COL12A1, COL6A1
3muscle cell cellular homeostasisGO:00467169.9CAPN3, DMD
4regulation of ryanodine-sensitive calcium-release channel activityGO:00603149.8DMD, SEPN1
5extracellular matrix organizationGO:00301989.7COL6A1, COL6A2, COL6A3
6collagen catabolic processGO:00305749.3COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
7cell adhesionGO:00071558.9COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
8muscle organ developmentGO:00075178.8CAPN3, COL6A3, DMD, SGCG

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.7CAPN3, DMD

Sources for Bethlem Myopathy 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet