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:
49OMIM, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Bethlem Myopathy 1:

Name: Bethlem Myopathy 1 49 67
Bethlem Myopathy 10 11 45 22 47 12 51 67 24 65
Myopathy, Benign Congenital, with Contractures 45 67
Muscular Dystrophy, Benign Congenital 45 67
 
Benign Congenital Myopathy with Contractures 22
Benign Congenital Muscular Dystrophy 10
Benign Autosomal Dominant Myopathy 51
Bthlm1 67

Characteristics:

Orphanet epidemiological data:

51
bethlem myopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

61


Classifications:



External Ids:

OMIM49 158810
Disease Ontology10 DOID:0050663
Orphanet51 610
ICD10 via Orphanet28 G71.0
MESH via Orphanet37 C535436
UMLS via Orphanet66 C1834674
MedGen34 C1834674
MeSH36 D009136
UMLS65 C1834674

Summaries for Bethlem Myopathy 1

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NIH Rare Diseases:45 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 myasthenia gravis and ullrich congenital muscular dystrophy 1, 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), and among its related pathways are NCAM1 interactions and PI3K-Akt signaling pathway. Related mouse phenotypes are skeleton and muscle.

UniProtKB/Swiss-Prot:67 Bethlem myopathy 1: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.

Wikipedia:68 Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular... more...

Description from OMIM:49 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 top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenia gravis30.6COL6A1, COL6A2, COL6A3
2ullrich congenital muscular dystrophy 129.1CAPN3, COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
3bethlem myopathy 212.7
4benign autosomal dominant myopathy12.5
5becker muscular dystrophy11.5
6collagen vi related muscular dystrophy10.6
7ullrich congenital muscular dystrophy 210.5
8ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.5
9collagen vi-related myopathy10.5
10knobloch syndrome, type 110.4COL6A1, COL6A2
11lymphoma10.3
12lmna-related muscle diseases10.2CAPN3, DMD
13dystonia 2710.2COL6A1, COL6A2, COL6A3
14congenital disorders of n-linked glycosylation pathway10.2COL6A1, COL6A2, COL6A3
15rheumatoid arthritis10.2
16prostate cancer10.2
17breast cancer10.2
18esophageal cancer10.2
19pulmonary alveolar microlithiasis10.2
20cystic fibrosis10.2
21rothmund-thomson syndrome10.2
22wilson disease10.2
23arthritis10.2
24joint disorders10.2
25mantle cell lymphoma10.2
26polycystic ovary syndrome10.2
27primary biliary cirrhosis10.2
28ulcerative colitis10.2
29argentine hemorrhagic fever10.2
30extrapulmonary tuberculosis10.2
313-methylcrotonyl-coa carboxylase deficiency10.2
32colitis10.2
33congenital fibrosis of the extraocular muscles10.2
34arteriovenous malformation10.2
35heart disease10.2
36esophagitis10.2
37hypertrophic cardiomyopathy10.2
38pancytopenia10.2
39sulfhemoglobinemia10.2
40brain cancer10.2
41prostatitis10.2
42melanoma10.2
43cervicitis10.2
44transitional cell carcinoma10.2
45interstitial lung disease10.2
46cerebritis10.2
47retinitis10.2
48extramedullary plasmacytoma10.2
49plasmacytoma10.2
50meige syndrome10.2

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:

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

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 Myopathy22

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.4ADAMTS18, COL12A1, COL6A3, DMD, LMNA, SEPN1
2MP:00053697.2CAPN3, COL12A1, COL6A1, COL6A3, DMD, LMNA
3MP:00053786.4ADAMTS18, CAPN3, COL12A1, COL6A2, COL6A3, DMD

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:

67 (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 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
22COL6A1NM_001848.2(COL6A1): c.821C> T (p.Pro274Leu)single nucleotide variantPathogenicrs201093313GRCh37Chr 21, 47409014: 47409014
23COL6A3NM_004369.3(COL6A3): c.6859delC (p.Arg2287Glyfs)deletionLikely pathogenicrs794729205GRCh37Chr 2, 238258810: 238258810
24COL6A3NM_004369.3(COL6A3): c.6283-2A> Csingle nucleotide variantLikely pathogenicrs797044988GRCh37Chr 2, 238268033: 238268033
25COL6A2NM_001849.3(COL6A2): c.2096G> A (p.Gly699Asp)single nucleotide variantLikely pathogenicrs863224861GRCh38Chr 21, 46125911: 46125911
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

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
1sarcolemmaGO:004238310.0COL6A2, COL6A3
2extracellular matrixGO:00310129.6COL12A1, COL6A2, COL6A5
3extracellular vesicleGO:19035619.6COL12A1, COL6A2, COL6A3
4endoplasmic reticulum lumenGO:00057889.5COL6A1, COL6A2, COL6A3
5protein complexGO:00432349.3COL6A1, COL6A2, DMD

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

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.6CAPN3, DMD
2extracellular matrix disassemblyGO:00226178.9COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
3cell adhesionGO:00071558.6COL12A1, COL6A1, COL6A2, COL6A3, COL6A5

Sources for Bethlem Myopathy 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet