BTHLM1
MCID: BTH005
MIFTS: 46

Bethlem Myopathy 1 (BTHLM1) malady

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

Aliases & Classifications for Bethlem Myopathy 1

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Sources:
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
See all MalaCards sources

Aliases & Descriptions for Bethlem Myopathy 1:

Name: Bethlem Myopathy 1 52 70 27
Bethlem Myopathy 11 48 24 54 70 27 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

Characteristics:

Orphanet epidemiological data:

54
bethlem myopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

64

Classifications:



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 Array, Array and Array. An important gene associated with Bethlem Myopathy 1 is COL6A1 (Collagen Type VI Alpha 1 Chain), and among its related pathways are miRNA targets in ECM and membrane receptors and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. 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 top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1ullrich congenital muscular dystrophy 129.1ADAMTS18, ANO5, CAPN3, COL12A1, COL6A1, COL6A2
2bethlem myopathy 212.3
3collagen vi-related myopathy11.3
4collagen vi related muscular dystrophy11.1
5ullrich congenital muscular dystrophy 210.9
6ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.9
7myopathy10.7
8muscular dystrophy10.4
9lumbar malsegmentation short stature10.2DMD, DYSF
10dfna2 nonsyndromic hearing loss10.2COL6A1, COL6A2, COL6A3
11myelofibrosis10.2COL6A1, COL6A2, COL6A3
12autosomal recessive nonsyndromic deafness 4710.2DMD, LAMA2
13cerebral hemorrhage10.2CAPN3, DYSF
14cardiomyopathy, dilated, 1aa, with or without lvnc10.1DMD, LAMA2
15congenital heart defects, multiple types, 310.1CAPN3, DYSF
16autosomal dominant limb-girdle muscular dystrophy type 1c10.1CAPN3, DYSF
17craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies10.1CAPN3, DYSF
18asthma-related traits 610.1CAPN3, DYSF
19autosomal recessive limb-girdle muscular dystrophy type 2x10.1CAPN3, DYSF
20cardiomyopathy, familial restrictive, 310.1DMD, LAMA2
21neurodegeneration with brain iron accumulation 610.1CAPN3, DYSF
22autosomal recessive limb-girdle muscular dystrophy type 2w10.1CAPN3, DYSF
23keloids10.1
24ehlers-danlos syndrome, kyphoscoliotic form10.1CAPN3, DYSF
25sdhc-related paraganglioma and gastric stromal sarcoma10.1DMD, DYSF
26dermatofibrosarcoma protuberans10.1DMD, LAMA2
27arthrogryposis, distal, type 810.0COL6A1, COL6A2, LMNA
28pancreatic agenesis 110.0CAPN3, DMD, DYSF
29inflammatory bowel disease 1410.0DMD, DYSF
30cardiomyopathy, dilated, 1x10.0DMD, LAMA2
31myopathy, distal, with anterior tibial onset10.0CAPN3, DMD, DYSF
32cubitus valgus with mental retardation and unusual facies10.0DMD, LAMA2
33vulvar eccrine adenocarcinoma10.0CAPN3, DMD, DYSF
34limb-girdle muscular dystrophy10.0
35ceroid lipofuscinosis, neuronal, 210.0DMD, DYSF
36spindle cell sarcoma10.0COL6A1, COL6A2, COL6A3, DYSF
37thrombocytopenia, x-linked10.0DMD, DYSF, LAMA2
38adrenal cortex disease10.0ANO5, DYSF
39deafness, autosomal recessive 18b10.0ANO5, DYSF
40charcot-marie-tooth disease, type 2b210.0CAPN3, DYSF, LAMA2
41microcephaly and chorioretinopathy 29.9DMD, DYSF, LMNA
42sudden infant death with dysgenesis of the testes syndrome9.9DMD, LAMA2, LMNA
43lipodystrophy, familial partial, 29.9DMD, LAMA2, LMNA
44glycogen storage disease 0, muscle9.9DMD, LAMA2, LMNA
45malignant hyperthermia susceptibility9.9CAPN3, DYSF, LMNA
46parametrium malignant neoplasm9.9DMD, LAMA2, LMNA
47spinocerebellar ataxia 119.9CAPN3, DYSF
48muscular dystrophy, rigid spine, 19.9COL6A2, DMD, DYSF, LAMA2
49becker muscular dystrophy9.9
50calpainopathy9.9

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:

158810

Clinical features from OMIM:

158810

Human phenotypes related to Bethlem Myopathy 1:

 54 64 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness64 54 Very frequent (99-80%) HP:0001387
2 myopathy64 54 Very frequent (99-80%) HP:0003198
3 emg abnormality64 54 Very frequent (99-80%) HP:0003457
4 cachexia64 54 Very frequent (99-80%) HP:0004326
5 camptodactyly of finger64 54 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

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00053-A7.9ANO5, COL6A1, COL6A3, DMD, DYSF, LAMA2

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0CAPN3, COL12A1, COL6A1, COL6A3, DMD, DYSF
2MP:00053787.9ADAMTS18, CAPN3, COL12A1, COL6A2, COL6A3, DMD
3MP:00053907.9ADAMTS18, 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 Myopathy27 24

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
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.Gly700SerVAR_058231rs794727418
14COL6A2p.Cys777ArgVAR_058233rs267606747
15COL6A2p.Pro932LeuVAR_058241rs117725825
16COL6A3p.Gly1679GluVAR_001910rs121434553
17COL6A3p.Lys1014GluVAR_058248rs114284669
18COL6A3p.Glu1386LysVAR_058250rs146092501
19COL6A3p.Asn1467AspVAR_058252rs138049094
20COL6A3p.Leu1726ArgVAR_058257rs121434555
21COL6A3p.Val1985MetVAR_058258rs200478135
22COL6A3p.Gly2047AspVAR_058259
23COL6A3p.Gly2056ArgVAR_058260
24COL6A3p.Gly2080AspVAR_058261rs794727188
25COL6A3p.Ala2941ValVAR_058264rs11903206

Clinvar genetic disease variations for Bethlem Myopathy 1:

5 (show all 77)
id Gene Variation Type Significance SNP ID Assembly Location
1COL6A3COL6A3, IVS15DS, GT-TC, +1undetermined variantPathogenic
2COL6A3NM_ 004369.3(COL6A3): c.5177T> G (p.Leu1726Arg)SNVPathogenicrs121434555GRCh37Chr 2, 238275653: 238275653
3COL6A2NM_ 001849.3(COL6A2): c.811G> A (p.Gly271Ser)SNVPathogenicrs121912940GRCh37Chr 21, 47535795: 47535795
4COL6A2NM_ 001849.3(COL6A2): c.1861G> A (p.Asp621Asn)SNVPathogenicrs267606750GRCh37Chr 21, 47545423: 47545423
5COL6A2COL6A2, IVS10AS, A-G, -2SNVPathogenic
6COL6A1NM_ 001848.2(COL6A1): c.1577G> T (p.Gly526Val)SNVPathogenicrs121912934GRCh37Chr 21, 47418313: 47418313
7COL6A1COL6A1, IVS11AS, G-A, -1SNVPathogenic
8COL6A1NM_ 001848.2(COL6A1): c.1003_ 1056del54SNVPathogenicrs797044456GRCh38Chr 21, 45990828: 45990828
9COL6A1NM_ 001848.2(COL6A1): c.1022G> A (p.Gly341Asp)SNVPathogenicrs121912935GRCh37Chr 21, 47410706: 47410706
10COL6A1NM_ 001848.2(COL6A1): c.362A> G (p.Lys121Arg)SNVPathogenicrs121912936GRCh37Chr 21, 47404317: 47404317
11COL6A1NM_ 001848.2(COL6A1): c.1003_ 1056del54SNVPathogenicrs398123631GRCh37Chr 21, 47410741: 47410741
12COL6A1COL6A1, IVS3DS, G-A, +1SNVPathogenic
13COL6A1NM_ 001848.2(COL6A1): c.850G> A (p.Gly284Arg)SNVPathogenicrs121912938GRCh37Chr 21, 47409043: 47409043
14COL6A1NM_ 001848.2(COL6A1): c.904G> C (p.Gly302Arg)SNVPathogenicrs794727028GRCh37Chr 21, 47409666: 47409666
15COL6A1NM_ 001848.2(COL6A1): c.957+2T> CSNVPathogenicrs794727060GRCh37Chr 21, 47410200: 47410200
16COL6A3NM_ 004369.3(COL6A3): c.6239G> A (p.Gly2080Asp)SNVPathogenicrs794727188GRCh37Chr 2, 238268774: 238268774
17COL6A3NM_ 004369.3(COL6A3): c.6293G> T (p.Gly2098Val)SNVPathogenicrs794727206GRCh37Chr 2, 238268021: 238268021
18COL6A2NM_ 001849.3(COL6A2): c.801+1G> ASNVPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
19COL6A2NM_ 001849.3(COL6A2): c.812G> A (p.Gly271Asp)SNVPathogenicrs794727788GRCh37Chr 21, 47535796: 47535796
20COL6A2NM_ 001849.3(COL6A2): c.875G> T (p.Gly292Val)SNVPathogenicrs794727855GRCh37Chr 21, 47535942: 47535942
21COL6A3NM_ 004369.3(COL6A3): c.6283-2A> CSNVLikely pathogenicrs797044988GRCh37Chr 2, 238268033: 238268033
22COL6A2NM_ 001849.3(COL6A2): c.2096G> A (p.Gly699Asp)SNVLikely pathogenicrs863224861GRCh38Chr 21, 46125911: 46125911
23COL6A2NM_ 001849.3(COL6A2): c.954G> T (p.Lys318Asn)SNVLikely pathogenicrs878854362GRCh37Chr 21, 47536591: 47536591
24COL6A3NM_ 004369.3(COL6A3): c.7264C> T (p.Arg2422Ter)SNVLikely pathogenicrs878854379GRCh37Chr 2, 238253397: 238253397
25COL6A1NM_ 001848.2(COL6A1): c.931-1G> ASNVPathogenicrs886042354GRCh37Chr 21, 47410171: 47410171
26COL6A3NM_ 004369.3(COL6A3): c.5010T> A (p.Tyr1670Ter)SNVPathogenicrs886042402GRCh37Chr 2, 238275820: 238275820
27COL6A1NM_ 001848.2(COL6A1): c.1022G> T (p.Gly341Val)SNVPathogenicrs121912935GRCh37Chr 21, 47410706: 47410706
28COL6A3NM_ 004369.3(COL6A3): c.4124delA (p.Gln1375Argfs)deletionPathogenicrs886042447GRCh37Chr 2, 238280536: 238280536
29COL6A2NM_ 001849.3(COL6A2): c.920G> T (p.Gly307Val)SNVLikely pathogenicrs886042541GRCh37Chr 21, 47536310: 47536310
30COL6A3NM_ 004369.3(COL6A3): c.7796_ 7797delTT (p.Phe2599Trpfs)deletionPathogenicrs886042623GRCh37Chr 2, 238249762: 238249763
31COL6A1NM_ 001848.2(COL6A1): c.1075_ 1076delGGinsAA (p.Gly359Asn)indelLikely pathogenicrs886042646GRCh37Chr 21, 47410911: 47410912
32COL6A1NM_ 001848.2(COL6A1): c.914G> A (p.Gly305Glu)SNVLikely pathogenicrs886042684GRCh37Chr 21, 47409676: 47409676
33COL6A1NM_ 001848.2(COL6A1): c.1603G> A (p.Gly535Arg)SNVLikely pathogenicrs764556767GRCh37Chr 21, 47418339: 47418339
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.805G> A (p.Gly269Arg)SNVLikely pathogenicrs886042856GRCh37Chr 21, 47408998: 47408998
37COL6A2NM_ 001849.3(COL6A2): c.857G> T (p.Gly286Val)SNVLikely pathogenicrs727502827GRCh37Chr 21, 47535924: 47535924
38COL6A1NM_ 001848.2(COL6A1): c.930+1G> ASNVPathogenicrs886042902GRCh37Chr 21, 47409693: 47409693
39COL6A3NM_ 004369.3(COL6A3): c.6175G> T (p.Gly2059Cys)SNVPathogenicrs758124326GRCh37Chr 2, 238269799: 238269799
40COL6A2NM_ 001849.3(COL6A2): c.785G> A (p.Gly262Asp)SNVPathogenicrs886042943GRCh37Chr 21, 47533971: 47533971
41COL6A1NM_ 001848.2(COL6A1): c.833G> A (p.Gly278Glu)SNVLikely pathogenicrs886043106GRCh37Chr 21, 47409026: 47409026
42COL6A1NM_ 001848.2(COL6A1): c.928_ 930delAAG (p.Lys310del)deletionPathogenicrs886043114GRCh37Chr 21, 47409690: 47409692
43COL6A2NM_ 001849.3(COL6A2): c.1053+1G> ASNVPathogenicrs886043187GRCh37Chr 21, 47537368: 47537368
44COL6A3NM_ 004369.3(COL6A3): c.6354+1G> ASNVLikely pathogenicrs886042883GRCh37Chr 2, 238267848: 238267848
45COL6A2NM_ 001849.3(COL6A2): c.865G> T (p.Gly289Cys)SNVPathogenicrs886043270GRCh37Chr 21, 47535932: 47535932
46COL6A1NM_ 001848.2(COL6A1): c.1039_ 1052delGGCTCGCCCGGGTT (p.Gly347Terfs)deletionPathogenicrs886043291GRCh37Chr 21, 47410723: 47410736
47COL6A1NM_ 001848.2(COL6A1): c.1021G> T (p.Gly341Cys)SNVPathogenicrs886043321GRCh37Chr 21, 47410705: 47410705
48COL6A2NM_ 001849.3(COL6A2): c.838G> C (p.Gly280Arg)SNVLikely pathogenicrs886043323GRCh37Chr 21, 47535822: 47535822
49COL6A1NM_ 001848.2(COL6A1): c.1003-1G> ASNVPathogenicrs886043330GRCh37Chr 21, 47410686: 47410686
50COL6A2NM_ 001849.3(COL6A2): c.801+1G> TSNVPathogenicrs794727715GRCh37Chr 21, 47533988: 47533988
51COL6A1NM_ 001848.2(COL6A1): c.788G> A (p.Gly263Asp)SNVLikely pathogenicrs886043351GRCh37Chr 21, 47407552: 47407552
52COL6A3NM_ 004369.3(COL6A3): c.761delG (p.Gly254Glufs)deletionPathogenicrs780921503GRCh37Chr 2, 238296776: 238296776
53COL6A1NM_ 001848.2(COL6A1): c.1666G> A (p.Gly556Arg)SNVLikely pathogenicrs886043521GRCh37Chr 21, 47418865: 47418865
54COL6A2NM_ 001849.3(COL6A2): c.866G> A (p.Gly289Asp)SNVLikely pathogenicrs886043554GRCh37Chr 21, 47535933: 47535933
55COL6A3NM_ 004369.3(COL6A3): c.6890G> C (p.Gly2297Ala)SNVLikely pathogenicrs886043576GRCh38Chr 2, 237348653: 237348653
56COL6A1NM_ 001848.2(COL6A1): c.1002+1G> TSNVPathogenicrs886043700GRCh37Chr 21, 47410337: 47410337
57COL6A3NM_ 004369.3(COL6A3): c.6212G> A (p.Gly2071Asp)SNVLikely pathogenicrs886043737GRCh37Chr 2, 238268801: 238268801
58COL6A1NM_ 001848.2(COL6A1): c.1002+1G> ASNVPathogenicrs886043700GRCh37Chr 21, 47410337: 47410337
59COL6A2NM_ 001849.3(COL6A2): c.1054-2A> GSNVPathogenicrs886044023GRCh37Chr 21, 47537786: 47537786
60COL6A2NM_ 001849.3(COL6A2): c.1053+2delTdeletionPathogenicrs886044140GRCh37Chr 21, 47537369: 47537369
61COL6A1NM_ 001848.2(COL6A1): c.932G> A (p.Gly311Asp)SNVPathogenicrs886044231GRCh37Chr 21, 47410173: 47410173
62COL6A1NM_ 001848.2(COL6A1): c.931-1G> CSNVLikely pathogenicrs886042354GRCh37Chr 21, 47410171: 47410171
63COL6A2NM_ 001849.3(COL6A2): c.1396-11_ 1396-2delCTTTCTTCCAdeletionPathogenicrs886044484GRCh37Chr 21, 47540964: 47540973
64COL6A2NM_ 001849.3(COL6A2): c.1096C> T (p.Arg366Ter)SNVPathogenicrs387906609GRCh37Chr 21, 47537830: 47537830
65COL6A2NM_ 001849.3(COL6A2): c.2611G> A (p.Asp871Asn)SNVPathogenic/ Likely pathogenicrs387906610GRCh37Chr 21, 47552017: 47552017
66COL6A3NM_ 004369.3(COL6A3): c.7669-2delAdeletionLikely pathogenicrs764193290GRCh38Chr 2, 237342163: 237342163
67COL6A2NM_ 001849.3(COL6A2): c.803G> A (p.Gly268Asp)SNVLikely pathogenicrs397515333GRCh37Chr 21, 47535787: 47535787
68COL6A1NM_ 001848.2(COL6A1): c.805-2A> GSNVPathogenicrs398123639GRCh37Chr 21, 47408996: 47408996
69COL6A1NM_ 001848.2(COL6A1): c.868G> A (p.Gly290Arg)SNVPathogenicrs121912939GRCh37Chr 21, 47409531: 47409531
70COL6A1NM_ 001848.2(COL6A1): c.877G> A (p.Gly293Arg)SNVLikely pathogenicrs398123643GRCh37Chr 21, 47409540: 47409540
71COL6A1NM_ 001848.2(COL6A1): c.896G> A (p.Gly299Glu)SNVLikely pathogenicrs398123644GRCh37Chr 21, 47409559: 47409559
72COL6A2NM_ 001849.3(COL6A2): c.1461delA (p.Ser488Leufs)deletionPathogenicrs398123645GRCh37Chr 21, 47541472: 47541472
73COL6A2NM_ 001849.3(COL6A2): c.1522-1G> ASNVPathogenicrs398123646GRCh37Chr 21, 47542021: 47542021
74COL6A2NM_ 001849.3(COL6A2): c.855+2T> GSNVPathogenicrs113525292GRCh37Chr 21, 47535841: 47535841
75COL6A3NM_ 004369.3(COL6A3): c.175C> T (p.Arg59Ter)SNVPathogenicrs398124119GRCh37Chr 2, 238303764: 238303764
76COL6A3NM_ 004369.3(COL6A3): c.6210+1G> ASNVPathogenicrs398124126GRCh37Chr 2, 238269763: 238269763
77COL6A3NM_ 004369.3(COL6A3): c.6282+1G> ASNVPathogenicrs398124128GRCh37Chr 2, 238268730: 238268730

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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Pathways related to Bethlem Myopathy 1 according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.6COL6A1, COL6A2, COL6A3
29.6DMD, LAMA2
39.3COL6A1, COL6A2, COL6A3, COL6A5
4
Show member pathways
9.0DMD, LAMA2, LMNA
5
Show member pathways
8.9COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
6
Show member pathways
8.8COL12A1, COL6A1, COL6A2, COL6A3, LAMA2
7
Show member pathways
8.7COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
88.7COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
9
Show member pathways
8.6CAPN3, DMD, LAMA2, LMNA
10
Show member pathways
8.4CAPN3, COL12A1, COL6A1, COL6A2, COL6A3, LAMA2
11
Show member pathways
8.3CAPN3, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2
12
Show member pathways
7.1ADAMTS18, CAPN3, COL12A1, COL6A1, COL6A2, COL6A3

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:003001610.4CAPN3, DMD
3extracellular vesicleGO:190356110.3COL12A1, COL6A2, COL6A3
4endoplasmic reticulum lumenGO:000578810.1COL12A1, COL6A1, COL6A2, COL6A3
5protein complexGO:00432349.8CAPN3, COL6A1, COL6A2, DMD
6collagen trimerGO:00055819.7COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
7T-tubuleGO:00303159.6CAPN3, DYSF
8sarcolemmaGO:00423838.7COL6A1, COL6A2, COL6A3, DMD, DYSF, LAMA2
9extracellular regionGO:00055768.6ADAMTS18, COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
10proteinaceous extracellular matrixGO:00055788.4ADAMTS18, COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
11extracellular matrixGO:00310128.0ADAMTS18, COL12A1, COL6A1, COL6A2, COL6A3, COL6A5

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
4extracellular matrix organizationGO:00301989.7COL6A1, COL6A2, COL6A3, LAMA2
5collagen catabolic processGO:00305749.6COL12A1, COL6A1, COL6A2, COL6A3, COL6A5
6muscle organ developmentGO:00075179.2CAPN3, COL6A3, DMD, LAMA2
7cell adhesionGO:00071559.0COL12A1, COL6A1, COL6A2, COL6A3, COL6A5, LAMA2

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet