BTHLM1
MCID: BTH005
MIFTS: 56

Bethlem Myopathy 1 (BTHLM1)

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

Aliases & Classifications for Bethlem Myopathy 1

MalaCards integrated aliases for Bethlem Myopathy 1:

Name: Bethlem Myopathy 1 57 75 29 6
Bethlem Myopathy 57 12 76 53 59 75 37 29 13 55 15 73
Myopathy, Benign Congenital, with Contractures 57 53 75
Muscular Dystrophy, Benign Congenital 57 53 75
Bthlm1 57 75
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5; Lgmdd5 57
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 57
Benign Congenital Muscular Dystrophy 12
Benign Autosomal Dominant Myopathy 59
Myopathy, Bethlem, Type 1 40
Myopathy, Bethlem 40
Lgmdd5 57

Characteristics:

Orphanet epidemiological data:

59
bethlem myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
slow progression
onset usually in early childhood, although ranges from birth to adulthood
approximately half of patients need ambulatory support after the fifth decade
ullrich congenital muscular dystrophy is an allelic disorder with autosomal recessive inheritance and a more severe phenotype


HPO:

32

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Bethlem Myopathy 1

NIH Rare Diseases : 53 Bethlem myopathy is a rare disease affecting the skeletal muscles and connective tissue. The disease is characterized by slowly progressive muscle weakness and joint stiffness (contractures). It most often affects the fingers, wrists, elbows, and ankles. Signs and symptoms may begin before birth (with decreased fetal movements), shortly after birth (with low muscle tone or torticollis), in early childhood (with delayed motor skills, muscle weakness, and contractures), or in adulthood (with weakness, Achilles tendon, or finger contractures). Due to the disease's progression, most people with Bethlem myopathy over age 50 require mobility aids (such as a cane, crutches, or wheelchair) for outdoor mobility. Rarely, severe muscle weakness may lead to respiratory difficulties in later life.   Bethlem myopathy is caused by mutations (changes) in the COL6A1, COL6A2, or COL6A3 genes. Most cases are inherited in an autosomal dominant manner, but in rare cases the disease is autosomal recessive. The diagnosis is based on clinical examination and laboratory tests, but genetic testing may confirm the diagnosis. Treatment depends on individual symptoms but routinely involves physical therapy. Surgery to correct joint contractures may be needed.

MalaCards based summary : Bethlem Myopathy 1, also known as bethlem myopathy, is related to collagen vi-related myopathy and ullrich congenital muscular dystrophy 1. An important gene associated with Bethlem Myopathy 1 is COL6A1 (Collagen Type VI Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include testes, skeletal muscle and skin, and related phenotypes are joint stiffness and neonatal hypotonia

UniProtKB/Swiss-Prot : 75 Bethlem myopathy 1: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.

Wikipedia : 76 Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular... more...

Description from OMIM: 158810

Related Diseases for Bethlem Myopathy 1

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 52)
# Related Disease Score Top Affiliating Genes
1 collagen vi-related myopathy 32.0 COL6A3 COL6A2 COL6A1
2 ullrich congenital muscular dystrophy 1 31.7 LMNA COL6A5 COL6A3 COL6A2 COL6A1 COL12A1
3 myopathy 30.9 SELENON DYSF COL6A3 COL6A2 COL6A1 CAPN3
4 muscle disorders 30.6 SELENON COL6A3 COL6A2 COL6A1
5 muscular dystrophy, congenital, lmna-related 30.2 SELENON LMNA DMD COL6A3 COL6A2 COL6A1
6 muscular dystrophy, becker type 30.1 DYSF DMD
7 limb-girdle muscular dystrophy 30.0 LMNA DYSF DMD CAPN3
8 muscular dystrophy 28.8 SELENON LMNA ISPD GMPPB DYSF DMD
9 bethlem myopathy 2 12.6
10 collagen vi related muscular dystrophy 11.4
11 ullrich congenital muscular dystrophy 2 11.2
12 keloids 10.2
13 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 DMD CAPN3
14 localized lipodystrophy 10.1 DYSF DMD
15 isolated hyperckemia 10.1 DMD CAPN3
16 keloid formation 10.1
17 ptosis 10.1
18 autosomal dominant limb-girdle muscular dystrophy type 1a 10.1
19 benign autosomal dominant myopathy 10.1
20 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 DYSF CAPN3
21 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 DYSF CAPN3
22 myopathy, proximal, and ophthalmoplegia 10.0 LMNA COL6A2 COL6A1
23 cardiomyopathy, dilated, 1a 10.0 LMNA DMD
24 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 DYSF CAPN3
25 stormorken syndrome 10.0 DYSF DMD
26 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 DYSF CAPN3
27 muscular dystrophy, limb-girdle, autosomal recessive 8 10.0 DYSF CAPN3
28 dysferlinopathy 10.0 DYSF CAPN3
29 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.0 LMNA COL6A2
30 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 DYSF CAPN3
31 hypotonia 10.0
32 muscular dystrophy, congenital merosin-deficient, 1a 10.0 LMNA DMD B3GALNT2
33 autosomal recessive limb-girdle muscular dystrophy 10.0 DYSF DMD CAPN3
34 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 DYSF DMD CAPN3
35 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 DYSF DMD CAPN3
36 myopathy, congenital 10.0 SELENON DYSF DMD
37 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 DYSF DMD CAPN3
38 muscular dystrophy, limb-girdle, autosomal recessive 6 9.9 DYSF DMD CAPN3
39 miyoshi muscular dystrophy 9.9 DYSF DMD CAPN3
40 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 LMNA DMD
41 myositis 9.9 DYSF DMD CAPN3
42 rigid spine muscular dystrophy 1 9.9 SELENON DYSF DMD COL6A2
43 autosomal recessive limb-girdle muscular dystrophy type 2w 9.9 ISPD GMPPB
44 intrinsic cardiomyopathy 9.9 LMNA DMD
45 muscular dystrophy-dystroglycanopathy , type c, 7 9.9 ISPD GMPPB
46 muscular dystrophy-dystroglycanopathy , type c, 14 9.8 ISPD GMPPB
47 congenital fiber-type disproportion 9.8 SELENON LMNA DYSF DMD
48 muscular dystrophy-dystroglycanopathy 9.8 ISPD GMPPB B3GALNT2
49 muscle eye brain disease 9.7 ISPD GMPPB B3GALNT2
50 muscle tissue disease 9.7 LMNA DYSF DMD COL6A1 CAPN3

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



Diseases related to Bethlem Myopathy 1

Symptoms & Phenotypes for Bethlem Myopathy 1

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
delayed motor milestones
muscle weakness, limb-girdle
proximal muscle weakness more severe than distal muscle weakness
extensor muscle weakness more severe than flexor muscle weakness
muscle atrophy, mild, more proximal than distal
more
Cardiovascular Heart:
no cardiac involvement

Skeletal:
contractures

Skeletal Hands:
long finger flexion contractures of the last four fingers

Laboratory Abnormalities:
normal or increased serum creatine kinase

Head And Neck Neck:
torticollis, congenital

Respiratory:
respiratory failure due to muscle weakness may occur in late stages

Skeletal Limbs:
contractures of the elbows
contractures of the ankles

Prenatal Manifestations Movement:
decreased fetal movements may occur


Clinical features from OMIM:

158810

Human phenotypes related to Bethlem Myopathy 1:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
2 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
3 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
4 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
5 joint laxity 59 32 frequent (33%) Frequent (79-30%) HP:0001388
6 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
7 muscular dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003560
8 torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0000473
9 progressive proximal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009073
10 multiple joint contractures 59 32 frequent (33%) Frequent (79-30%) HP:0002828
11 ankle contracture 59 32 frequent (33%) Frequent (79-30%) HP:0006466
12 proximal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007126
13 follicular hyperkeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007502
14 myopathy 32 HP:0003198
15 abnormality of the cardiovascular system 32 HP:0001626
16 respiratory insufficiency due to muscle weakness 32 HP:0002747
17 elevated serum creatine phosphokinase 32 HP:0003236
18 skeletal muscle atrophy 32 HP:0003202
19 elbow flexion contracture 32 HP:0002987
20 motor delay 32 HP:0001270
21 proximal muscle weakness 32 HP:0003701
22 decreased fetal movement 32 HP:0001558
23 limb-girdle muscle weakness 32 HP:0003325
24 congenital muscular torticollis 32 HP:0005988
25 distal muscle weakness 32 HP:0002460

MGI Mouse Phenotypes related to Bethlem Myopathy 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.56 CAPN3 COL12A1 COL6A1 COL6A3 DMD DYSF
2 no phenotypic analysis MP:0003012 9.02 CAPN3 COL6A1 DMD DYSF ISPD

Drugs & Therapeutics for Bethlem Myopathy 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Low Protein Diet in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 The Effect of Aerobic Exercise, on Fitness and Functional Muscle Strength, in Patients With Muscular Dystrophy Completed NCT01895283 Not Applicable
3 MR in Patients With Collagen VI Related Myopathies Recruiting NCT03693898 Not Applicable
4 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Bethlem Myopathy 1

Genetic Tests for Bethlem Myopathy 1

Genetic tests related to Bethlem Myopathy 1:

# Genetic test Affiliating Genes
1 Bethlem Myopathy 1 29 COL6A1 COL6A2 COL6A3
2 Bethlem Myopathy 29

Anatomical Context for Bethlem Myopathy 1

MalaCards organs/tissues related to Bethlem Myopathy 1:

41
Testes, Skeletal Muscle, Skin, Heart, Brain, Eye

Publications for Bethlem Myopathy 1

Articles related to Bethlem Myopathy 1:

(show top 50) (show all 64)
# Title Authors Year
1
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. ( 29894794 )
2018
2
Bethlem myopathy in a Portuguese patient - case report. ( 29774307 )
2017
3
Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation. ( 27421963 )
2016
4
Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy. ( 27563703 )
2016
5
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum. ( 27854213 )
2016
6
Detecting Collagen VI in Bethlem Myopathy. ( 25795730 )
2015
7
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI I+2(VI) chain. ( 25533456 )
2015
8
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing. ( 25749816 )
2015
9
A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish. ( 26221953 )
2015
10
Reply to Sabatelli et al.: Detecting collagen VI in Bethlem myopathy. ( 25964954 )
2015
11
Bethlem myopathy: pregnancy and delivery. ( 23832171 )
2014
12
Progressive cardiac dysfunction in bethlem myopathy during pregnancy. ( 24413245 )
2014
13
Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. ( 25477818 )
2014
14
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. ( 25477819 )
2014
15
[Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene]. ( 25449070 )
2014
16
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. ( 25535305 )
2014
17
Spinal Deformity in Bethlem Myopathy. ( 27927380 )
2014
18
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. ( 24163611 )
2013
19
Muscle MRI in Bethlem myopathy. ( 23595177 )
2013
20
Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis. ( 24339618 )
2013
21
Spontaneous keloid formation in patients with Bethlem myopathy. ( 23170014 )
2012
22
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 21496625 )
2011
23
Bethlem myopathy: a study of two families. ( 20739820 )
2010
24
Autosomal recessive Bethlem myopathy. ( 19949035 )
2009
25
Autosomal recessive inheritance of classic Bethlem myopathy. ( 19884007 )
2009
26
A refined diagnostic algorithm for Bethlem myopathy. ( 18378883 )
2008
27
Molecular consequences of dominant Bethlem myopathy collagen VI mutations. ( 17886299 )
2007
28
Cardiac involvement in Bethlem myopathy. ( 17562947 )
2007
29
Cardiac and pulmonary investigations in Bethlem myopathy. ( 17101832 )
2006
30
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. ( 16278855 )
2006
31
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15792870 )
2005
32
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. ( 15955946 )
2005
33
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. ( 16258657 )
2005
34
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15689448 )
2005
35
[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. ( 16447767 )
2005
36
Muscle ultrasound in Bethlem myopathy. ( 14681763 )
2003
37
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. ( 12467756 )
2002
38
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. ( 12374585 )
2002
39
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. ( 11932968 )
2002
40
Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. ( 11707460 )
2002
41
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. ( 11801404 )
2002
42
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. ( 11865138 )
2002
43
Muscle MRI findings in a three-generation family affected by Bethlem myopathy. ( 12401455 )
2002
44
Bethlem myopathy in a black creole pedigree. ( 19078680 )
2002
45
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. ( 11562567 )
2001
46
Bethlem myopathy in a Taiwanese family. ( 11480253 )
2001
47
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
48
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. ( 10419498 )
1999
49
Respiratory muscle involvement in Bethlem myopathy. ( 9921869 )
1999
50
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy. ( 10329467 )
1999

Variations for Bethlem Myopathy 1

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

75 (show all 25)
# Symbol AA change Variation ID SNP ID
1 COL6A1 p.Lys121Arg VAR_013580 rs121912936
2 COL6A1 p.Gly305Val VAR_013581
3 COL6A1 p.Gly341Asp VAR_013582 rs121912935
4 COL6A1 p.Ser116Asn VAR_058213 rs11553519
5 COL6A1 p.Gly272Asp VAR_058214 rs106479384
6 COL6A1 p.Pro274Leu VAR_058215 rs201093313
7 COL6A1 p.Gly275Arg VAR_058216
8 COL6A1 p.Gly290Arg VAR_058219 rs121912939
9 COL6A1 p.Gly341Val VAR_058221 rs121912935
10 COL6A1 p.Lys571Thr VAR_058222 rs751040647
11 COL6A2 p.Gly271Ser VAR_013589 rs121912940
12 COL6A2 p.Asp621Asn VAR_013590 rs267606750
13 COL6A2 p.Gly700Ser VAR_058231 rs794727418
14 COL6A2 p.Cys777Arg VAR_058233 rs267606747
15 COL6A2 p.Pro932Leu VAR_058241 rs117725825
16 COL6A3 p.Gly1679Glu VAR_001910 rs121434553
17 COL6A3 p.Lys1014Glu VAR_058248 rs114284669
18 COL6A3 p.Glu1386Lys VAR_058250 rs146092501
19 COL6A3 p.Asn1467Asp VAR_058252 rs138049094
20 COL6A3 p.Leu1726Arg VAR_058257 rs121434555
21 COL6A3 p.Val1985Met VAR_058258 rs200478135
22 COL6A3 p.Gly2047Asp VAR_058259
23 COL6A3 p.Gly2056Arg VAR_058260
24 COL6A3 p.Gly2080Asp VAR_058261 rs794727188
25 COL6A3 p.Ala2941Val VAR_058264 rs11903206

ClinVar genetic disease variations for Bethlem Myopathy 1:

6 (show top 50) (show all 1956)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL6A2 COL6A2, IVS10AS, A-G, -2 single nucleotide variant Pathogenic
2 COL6A3 NM_004369.3(COL6A3): c.5036G> A (p.Gly1679Glu) single nucleotide variant Likely pathogenic rs121434553 GRCh37 Chromosome 2, 238275794: 238275794
3 COL6A3 NM_004369.3(COL6A3): c.5036G> A (p.Gly1679Glu) single nucleotide variant Likely pathogenic rs121434553 GRCh38 Chromosome 2, 237367151: 237367151
4 COL6A3 COL6A3, IVS15DS, GT-TC, +1 undetermined variant Pathogenic
5 COL6A3 NM_004369.3(COL6A3): c.5177T> G (p.Leu1726Arg) single nucleotide variant Pathogenic rs121434555 GRCh37 Chromosome 2, 238275653: 238275653
6 COL6A3 NM_004369.3(COL6A3): c.5177T> G (p.Leu1726Arg) single nucleotide variant Pathogenic rs121434555 GRCh38 Chromosome 2, 237367010: 237367010
7 COL6A2 NM_001849.3(COL6A2): c.811G> A (p.Gly271Ser) single nucleotide variant Pathogenic rs121912940 GRCh37 Chromosome 21, 47535795: 47535795
8 COL6A2 NM_001849.3(COL6A2): c.811G> A (p.Gly271Ser) single nucleotide variant Pathogenic rs121912940 GRCh38 Chromosome 21, 46115881: 46115881
9 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 GRCh37 Chromosome 21, 47545423: 47545423
10 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 GRCh38 Chromosome 21, 46125509: 46125509
11 COL6A2 NM_001849.3(COL6A2): c.2795C> T (p.Pro932Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117725825 GRCh37 Chromosome 21, 47552201: 47552201
12 COL6A2 NM_001849.3(COL6A2): c.2795C> T (p.Pro932Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117725825 GRCh38 Chromosome 21, 46132287: 46132287
13 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Likely pathogenic rs267606747 GRCh37 Chromosome 21, 47546058: 47546058
14 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Likely pathogenic rs267606747 GRCh38 Chromosome 21, 46126144: 46126144
15 COL6A2 NM_001849.3(COL6A2): c.1493G> A (p.Arg498His) single nucleotide variant Uncertain significance rs267606749 GRCh37 Chromosome 21, 47541504: 47541504
16 COL6A2 NM_001849.3(COL6A2): c.1493G> A (p.Arg498His) single nucleotide variant Uncertain significance rs267606749 GRCh38 Chromosome 21, 46121590: 46121590
17 COL6A1 NM_001848.2(COL6A1): c.1577G> T (p.Gly526Val) single nucleotide variant Pathogenic rs121912934 GRCh37 Chromosome 21, 47418313: 47418313
18 COL6A1 NM_001848.2(COL6A1): c.1577G> T (p.Gly526Val) single nucleotide variant Pathogenic rs121912934 GRCh38 Chromosome 21, 45998399: 45998399
19 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic rs886042354 GRCh37 Chromosome 21, 47410171: 47410171
20 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic rs886042354 GRCh38 Chromosome 21, 45990257: 45990257
21 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs797044456 GRCh38 Chromosome 21, 45990828: 45990828
22 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs797044456 GRCh37 Chromosome 21, 47410742: 47410742
23 COL6A1 NM_001848.2(COL6A1): c.1022G> A (p.Gly341Asp) single nucleotide variant Pathogenic rs121912935 GRCh37 Chromosome 21, 47410706: 47410706
24 COL6A1 NM_001848.2(COL6A1): c.1022G> A (p.Gly341Asp) single nucleotide variant Pathogenic rs121912935 GRCh38 Chromosome 21, 45990792: 45990792
25 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 GRCh37 Chromosome 21, 47404317: 47404317
26 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 GRCh38 Chromosome 21, 45984403: 45984403
27 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh37 Chromosome 21, 47410741: 47410741
28 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh38 Chromosome 21, 45990827: 45990827
29 COL6A1 NM_001848.2(COL6A1): c.428+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47404384: 47404384
30 COL6A1 NM_001848.2(COL6A1): c.428+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 21, 45984470: 45984470
31 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh37 Chromosome 21, 47409043: 47409043
32 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh38 Chromosome 21, 45989129: 45989129
33 COL6A2 NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys) single nucleotide variant Pathogenic rs387906607 GRCh37 Chromosome 21, 47545432: 47545432
34 COL6A2 NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys) single nucleotide variant Pathogenic rs387906607 GRCh38 Chromosome 21, 46125518: 46125518
35 COL6A2 NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs387906609 GRCh37 Chromosome 21, 47537830: 47537830
36 COL6A2 NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs387906609 GRCh38 Chromosome 21, 46117916: 46117916
37 COL6A2 NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn) single nucleotide variant Pathogenic rs387906610 GRCh37 Chromosome 21, 47552017: 47552017
38 COL6A2 NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn) single nucleotide variant Pathogenic rs387906610 GRCh38 Chromosome 21, 46132103: 46132103
39 COL6A1 NM_001848.2(COL6A1): c.350T> C (p.Val117Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138899581 GRCh37 Chromosome 21, 47404305: 47404305
40 COL6A1 NM_001848.2(COL6A1): c.350T> C (p.Val117Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138899581 GRCh38 Chromosome 21, 45984391: 45984391
41 COL6A3 NM_004369.3(COL6A3): c.6193G> A (p.Gly2065Ser) single nucleotide variant Likely pathogenic rs397515332 GRCh37 Chromosome 2, 238269781: 238269781
42 COL6A3 NM_004369.3(COL6A3): c.6193G> A (p.Gly2065Ser) single nucleotide variant Likely pathogenic rs397515332 GRCh38 Chromosome 2, 237361138: 237361138
43 COL6A2 NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp) single nucleotide variant Likely pathogenic rs397515333 GRCh37 Chromosome 21, 47535787: 47535787
44 COL6A2 NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp) single nucleotide variant Likely pathogenic rs397515333 GRCh38 Chromosome 21, 46115873: 46115873
45 COL6A1 NM_001848.2(COL6A1): c.1056C> T (p.Asp352=) single nucleotide variant Benign/Likely benign rs116343553 GRCh37 Chromosome 21, 47410740: 47410740
46 COL6A1 NM_001848.2(COL6A1): c.1056C> T (p.Asp352=) single nucleotide variant Benign/Likely benign rs116343553 GRCh38 Chromosome 21, 45990826: 45990826
47 COL6A1 NM_001848.2(COL6A1): c.105C> G (p.Pro35=) single nucleotide variant Likely benign rs145579577 GRCh37 Chromosome 21, 47402555: 47402555
48 COL6A1 NM_001848.2(COL6A1): c.105C> G (p.Pro35=) single nucleotide variant Likely benign rs145579577 GRCh38 Chromosome 21, 45982641: 45982641
49 COL6A1 NM_001848.2(COL6A1): c.1095T> C (p.Gly365=) single nucleotide variant Benign rs1980982 GRCh37 Chromosome 21, 47410931: 47410931
50 COL6A1 NM_001848.2(COL6A1): c.1095T> C (p.Gly365=) single nucleotide variant Benign rs1980982 GRCh38 Chromosome 21, 45991017: 45991017

Copy number variations for Bethlem Myopathy 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 42157 10 29600000 38000000 Dul ITGB1 Bethlem myopathy

Expression for Bethlem Myopathy 1

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

Pathways for Bethlem Myopathy 1

Pathways related to Bethlem Myopathy 1 according to KEGG:

37
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151
2 Focal adhesion hsa04510
3 ECM-receptor interaction hsa04512

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 COL6A1 COL6A2 COL6A3 COL6A5
2
Show member pathways
12.53 CAPN3 COL6A1 COL6A2 COL6A3 COL6A5
3
Show member pathways
12.44 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
4
Show member pathways
12.06 CAPN3 DMD LMNA
5
Show member pathways
11.86 COL12A1 COL6A1 COL6A2 COL6A3
6
Show member pathways
11.82 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
7
Show member pathways
11.63 COL6A1 COL6A2 COL6A3 COL6A5
8 11.07 COL6A1 COL6A2 COL6A3
9 10.82 COL6A1 COL6A2 COL6A3 COL6A5
10 10.77 B3GALNT2 ISPD
11 10.64 COL12A1 COL6A1 COL6A2 COL6A3

GO Terms for Bethlem Myopathy 1

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.78 CAPN3 COL6A1 COL6A2 DMD
2 extracellular matrix GO:0031012 9.71 COL12A1 COL6A1 COL6A2 COL6A3
3 endoplasmic reticulum lumen GO:0005788 9.67 COL12A1 COL6A1 COL6A2 COL6A3
4 collagen-containing extracellular matrix GO:0062023 9.55 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
5 extracellular vesicle GO:1903561 9.5 COL12A1 COL6A2 COL6A3
6 myofibril GO:0030016 9.46 CAPN3 DMD
7 T-tubule GO:0030315 9.43 CAPN3 DYSF
8 sarcolemma GO:0042383 9.35 COL6A1 COL6A2 COL6A3 DMD DYSF
9 collagen type VI trimer GO:0005589 9.26 COL6A1 COL6A3
10 collagen trimer GO:0005581 9.02 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.65 COL6A1 COL6A2 COL6A3
2 cell adhesion GO:0007155 9.55 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
3 endodermal cell differentiation GO:0035987 9.46 COL12A1 COL6A1
4 muscle cell cellular homeostasis GO:0046716 9.43 CAPN3 DMD
5 muscle organ development GO:0007517 9.43 CAPN3 COL6A3 DMD
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.4 DMD SELENON
7 muscle fiber development GO:0048747 9.37 DMD DYSF
8 protein heterotrimerization GO:0070208 9.32 COL6A1 COL6A2
9 skeletal muscle tissue regeneration GO:0043403 9.13 DMD DYSF SELENON
10 growth plate cartilage chondrocyte morphogenesis GO:0003429 8.92 COL12A1 COL6A1 COL6A2 COL6A3

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.02 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
2 structural constituent of muscle GO:0008307 8.96 CAPN3 DMD

Sources for Bethlem Myopathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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