BTHLM1
MCID: BTH005
MIFTS: 54

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 58 76 30 6
Bethlem Myopathy 58 12 77 54 60 76 38 30 13 56 15 74
Myopathy, Benign Congenital, with Contractures 58 54 76
Muscular Dystrophy, Benign Congenital 58 54 76
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 58 76
Bthlm1 58 76
Lgmdd5 58 76
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5; Lgmdd5 58
Benign Congenital Muscular Dystrophy 12
Benign Autosomal Dominant Myopathy 60
Myopathy, Bethlem, Type 1 41
Myopathy, Bethlem 41

Characteristics:

Orphanet epidemiological data:

60
bethlem myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

58
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:

33

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Bethlem Myopathy 1

NIH Rare Diseases : 54 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 emg abnormality

Disease Ontology : 12 A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has material basis in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.

UniProtKB/Swiss-Prot : 76 Bethlem myopathy 1: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.

Wikipedia : 77 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 all 49)
# Related Disease Score Top Affiliating Genes
1 collagen vi-related myopathy 32.2 COL6A3 COL6A2 COL6A1
2 ullrich congenital muscular dystrophy 1 31.2 LMNA COL6A5 COL6A3 COL6A2 COL6A1 COL12A1
3 muscle disorders 30.8 SELENON COL6A3 COL6A2 COL6A1
4 myopathy 30.5 SELENON DYSF COL6A3 COL6A2 COL6A1 CAPN3
5 muscular dystrophy, becker type 30.1 DMD DYSF
6 muscular dystrophy, congenital, lmna-related 29.7 SELENON LMNA DMD COL6A3 COL6A2 COL6A1
7 limb-girdle muscular dystrophy 29.6 CAPN3 DMD DYSF LMNA
8 muscular dystrophy 27.9 SELENON LMNA GMPPB DYSF DMD COL6A3
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 localized lipodystrophy 10.1 DMD DYSF
14 keloid formation 10.1
15 myopathy, myofibrillar, 3 10.1
16 ptosis 10.1
17 benign autosomal dominant myopathy 10.1
18 limb-girdle muscular dystrophy type 1a 10.1
19 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 CAPN3 DMD
20 isolated hyperckemia 10.1 CAPN3 DMD
21 myopathy, proximal, and ophthalmoplegia 10.0 COL6A1 COL6A2 LMNA
22 cardiomyopathy, dilated, 1a 10.0 DMD LMNA
23 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.0 COL6A2 LMNA
24 stormorken syndrome 10.0 DMD DYSF
25 hypotonia 10.0
26 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 CAPN3 DYSF
27 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 CAPN3 DYSF
28 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 CAPN3 DYSF
29 autosomal recessive limb-girdle muscular dystrophy type 2a 9.9 CAPN3 DYSF
30 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 CAPN3 DYSF
31 muscular dystrophy, congenital merosin-deficient, 1a 9.9 B3GALNT2 DMD LMNA
32 dysferlinopathy 9.9 CAPN3 DYSF
33 muscular dystrophy-dystroglycanopathy , type c, 5 9.9 CAPN3 DYSF
34 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 DMD LMNA
35 myopathy, congenital 9.9 DMD DYSF SELENON
36 muscular dystrophy-dystroglycanopathy 9.8 B3GALNT2 GMPPB
37 autosomal recessive limb-girdle muscular dystrophy 9.8 CAPN3 DMD DYSF
38 autosomal recessive limb-girdle muscular dystrophy type 2c 9.8 CAPN3 DMD DYSF
39 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 CAPN3 DMD DYSF
40 muscular dystrophy, limb-girdle, autosomal recessive 7 9.8 CAPN3 DMD DYSF
41 muscular dystrophy, limb-girdle, autosomal recessive 6 9.8 CAPN3 DMD DYSF
42 miyoshi muscular dystrophy 9.8 CAPN3 DMD DYSF
43 myositis 9.8 CAPN3 DMD DYSF
44 intrinsic cardiomyopathy 9.8 DMD LMNA
45 rigid spine muscular dystrophy 1 9.8 SELENON DYSF DMD COL6A2
46 walker-warburg syndrome 9.7 B3GALNT2 DMD GMPPB
47 congenital fiber-type disproportion 9.6 DMD DYSF LMNA SELENON
48 muscle tissue disease 9.4 LMNA DYSF DMD COL6A1 CAPN3
49 muscular disease 8.3 SELENON LMNA GMPPB DYSF DMD COL6A3

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



Diseases related to Bethlem Myopathy 1

Symptoms & Phenotypes for Bethlem Myopathy 1

Human phenotypes related to Bethlem Myopathy 1:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
2 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
3 cachexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004326
4 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
5 progressive proximal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0009073
6 neonatal hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001319
7 joint laxity 60 33 frequent (33%) Frequent (79-30%) HP:0001388
8 multiple joint contractures 60 33 frequent (33%) Frequent (79-30%) HP:0002828
9 muscular dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003560
10 torticollis 60 33 frequent (33%) Frequent (79-30%) HP:0000473
11 ankle contracture 60 33 frequent (33%) Frequent (79-30%) HP:0006466
12 proximal amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0007126
13 follicular hyperkeratosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0007502
14 myopathy 33 HP:0003198
15 abnormality of the cardiovascular system 33 HP:0001626
16 respiratory insufficiency due to muscle weakness 33 HP:0002747
17 skeletal muscle atrophy 33 HP:0003202
18 elbow flexion contracture 33 HP:0002987
19 motor delay 33 HP:0001270
20 proximal muscle weakness 33 HP:0003701
21 decreased fetal movement 33 HP:0001558
22 limb-girdle muscle weakness 33 HP:0003325
23 congenital muscular torticollis 33 HP:0005988
24 distal muscle weakness 33 HP:0002460
25 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Bethlem Myopathy 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CAPN3 COL12A1 COL6A1 COL6A3 DMD DYSF

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 30 COL6A1 COL6A2 COL6A3
2 Bethlem Myopathy 30

Anatomical Context for Bethlem Myopathy 1

MalaCards organs/tissues related to Bethlem Myopathy 1:

42
Testes, Skeletal Muscle, Skin, Heart

Publications for Bethlem Myopathy 1

Articles related to Bethlem Myopathy 1:

(show top 50) (show all 66)
# Title Authors Year
1
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations. ( 30706156 )
2019
2
COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report. ( 30808312 )
2019
3
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. ( 29894794 )
2018
4
Bethlem myopathy in a Portuguese patient - case report. ( 29774307 )
2017
5
Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation. ( 27421963 )
2016
6
Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy. ( 27563703 )
2016
7
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum. ( 27854213 )
2016
8
Detecting Collagen VI in Bethlem Myopathy. ( 25795730 )
2015
9
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI I+2(VI) chain. ( 25533456 )
2015
10
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing. ( 25749816 )
2015
11
Reply to Sabatelli et al.: Detecting collagen VI in Bethlem myopathy. ( 25964954 )
2015
12
A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish. ( 26221953 )
2015
13
Bethlem myopathy: pregnancy and delivery. ( 23832171 )
2014
14
Progressive cardiac dysfunction in bethlem myopathy during pregnancy. ( 24413245 )
2014
15
Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. ( 25477818 )
2014
16
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. ( 25477819 )
2014
17
[Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene]. ( 25449070 )
2014
18
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. ( 25535305 )
2014
19
Spinal Deformity in Bethlem Myopathy. ( 27927380 )
2014
20
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. ( 24163611 )
2013
21
Muscle MRI in Bethlem myopathy. ( 23595177 )
2013
22
Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis. ( 24339618 )
2013
23
Spontaneous keloid formation in patients with Bethlem myopathy. ( 23170014 )
2012
24
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 21496625 )
2011
25
Bethlem myopathy: a study of two families. ( 20739820 )
2010
26
Autosomal recessive Bethlem myopathy. ( 19949035 )
2009
27
Autosomal recessive inheritance of classic Bethlem myopathy. ( 19884007 )
2009
28
A refined diagnostic algorithm for Bethlem myopathy. ( 18378883 )
2008
29
Molecular consequences of dominant Bethlem myopathy collagen VI mutations. ( 17886299 )
2007
30
Cardiac involvement in Bethlem myopathy. ( 17562947 )
2007
31
Cardiac and pulmonary investigations in Bethlem myopathy. ( 17101832 )
2006
32
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. ( 16278855 )
2006
33
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15792870 )
2005
34
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. ( 15955946 )
2005
35
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. ( 16258657 )
2005
36
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15689448 )
2005
37
[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. ( 16447767 )
2005
38
Muscle ultrasound in Bethlem myopathy. ( 14681763 )
2003
39
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. ( 12467756 )
2002
40
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. ( 12374585 )
2002
41
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. ( 11932968 )
2002
42
Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. ( 11707460 )
2002
43
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. ( 11801404 )
2002
44
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. ( 11865138 )
2002
45
Muscle MRI findings in a three-generation family affected by Bethlem myopathy. ( 12401455 )
2002
46
Bethlem myopathy in a black creole pedigree. ( 19078680 )
2002
47
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. ( 11562567 )
2001
48
Bethlem myopathy in a Taiwanese family. ( 11480253 )
2001
49
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
50
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. ( 10419498 )
1999

Variations for Bethlem Myopathy 1

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

76 (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 1888)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL6A3 NM_004369.3(COL6A3): c.5681C> T (p.Pro1894Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 237365855: 237365855
2 COL6A3 NM_004369.3(COL6A3): c.5681C> T (p.Pro1894Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 238274498: 238274498
3 COL6A3 NM_004369.3(COL6A3): c.3040A> G (p.Lys1014Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs114284669 GRCh38 Chromosome 2, 237376802: 237376802
4 COL6A3 NM_004369.3(COL6A3): c.7007C> T (p.Pro2336Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs202092407 GRCh37 Chromosome 2, 238256472: 238256472
5 COL6A3 NM_004369.3(COL6A3): c.7007C> T (p.Pro2336Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs202092407 GRCh38 Chromosome 2, 237347829: 237347829
6 COL6A3 NM_004369.3(COL6A3): c.34G> A (p.Val12Ile) single nucleotide variant Benign/Likely benign rs137910388 GRCh37 Chromosome 2, 238305427: 238305427
7 COL6A3 NM_004369.3(COL6A3): c.34G> A (p.Val12Ile) single nucleotide variant Benign/Likely benign rs137910388 GRCh38 Chromosome 2, 237396784: 237396784
8 COL6A2 NM_001849.3(COL6A2): c.1336G> C (p.Asp446His) single nucleotide variant Uncertain significance rs535007570 GRCh37 Chromosome 21, 47540432: 47540432
9 COL6A2 NM_001849.3(COL6A2): c.1336G> C (p.Asp446His) single nucleotide variant Uncertain significance rs535007570 GRCh38 Chromosome 21, 46120518: 46120518
10 COL6A3 NM_004369.3(COL6A3): c.4510C> T (p.Arg1504Trp) single nucleotide variant Uncertain significance rs144223596 GRCh37 Chromosome 2, 238277596: 238277596
11 COL6A3 NM_004369.3(COL6A3): c.4510C> T (p.Arg1504Trp) single nucleotide variant Uncertain significance rs144223596 GRCh38 Chromosome 2, 237368953: 237368953
12 COL6A2 NM_001849.3(COL6A2): c.2605G> A (p.Asp869Asn) single nucleotide variant Benign/Likely benign rs141021828 GRCh37 Chromosome 21, 47552011: 47552011
13 COL6A2 NM_001849.3(COL6A2): c.2605G> A (p.Asp869Asn) single nucleotide variant Benign/Likely benign rs141021828 GRCh38 Chromosome 21, 46132097: 46132097
14 COL6A3 NM_004369.3(COL6A3): c.6751C> T (p.Arg2251Trp) single nucleotide variant Benign/Likely benign rs116690555 GRCh37 Chromosome 2, 238261167: 238261167
15 COL6A3 NM_004369.3(COL6A3): c.6751C> T (p.Arg2251Trp) single nucleotide variant Benign/Likely benign rs116690555 GRCh38 Chromosome 2, 237352524: 237352524
16 COL6A2 NM_001849.3(COL6A2): c.2528G> A (p.Arg843Gln) single nucleotide variant Uncertain significance rs201736323 GRCh37 Chromosome 21, 47551934: 47551934
17 COL6A2 NM_001849.3(COL6A2): c.2528G> A (p.Arg843Gln) single nucleotide variant Uncertain significance rs201736323 GRCh38 Chromosome 21, 46132020: 46132020
18 COL6A3 NM_004369.3(COL6A3): c.8735C> T (p.Pro2912Leu) single nucleotide variant Benign/Likely benign rs112928650 GRCh37 Chromosome 2, 238245008: 238245008
19 COL6A3 NM_004369.3(COL6A3): c.8735C> T (p.Pro2912Leu) single nucleotide variant Benign/Likely benign rs112928650 GRCh38 Chromosome 2, 237336365: 237336365
20 COL6A3 NM_004369.3(COL6A3): c.3287G> A (p.Arg1096His) single nucleotide variant Conflicting interpretations of pathogenicity rs200860322 GRCh37 Chromosome 2, 238283447: 238283447
21 COL6A3 NM_004369.3(COL6A3): c.3287G> A (p.Arg1096His) single nucleotide variant Conflicting interpretations of pathogenicity rs200860322 GRCh38 Chromosome 2, 237374804: 237374804
22 COL6A1 NM_001848.2(COL6A1): c.1611C> T (p.Asn537=) single nucleotide variant Conflicting interpretations of pathogenicity rs200023632 GRCh37 Chromosome 21, 47418347: 47418347
23 COL6A1 NM_001848.2(COL6A1): c.1611C> T (p.Asn537=) single nucleotide variant Conflicting interpretations of pathogenicity rs200023632 GRCh38 Chromosome 21, 45998433: 45998433
24 COL6A2 NM_001849.3(COL6A2): c.2220T> C (p.Asp740=) single nucleotide variant Benign/Likely benign rs61735830 GRCh37 Chromosome 21, 47545949: 47545949
25 COL6A2 NM_001849.3(COL6A2): c.2220T> C (p.Asp740=) single nucleotide variant Benign/Likely benign rs61735830 GRCh38 Chromosome 21, 46126035: 46126035
26 COL6A3 NM_004369.3(COL6A3): c.7401G> A (p.Ser2467=) single nucleotide variant Conflicting interpretations of pathogenicity rs377572272 GRCh37 Chromosome 2, 238253260: 238253260
27 COL6A3 NM_004369.3(COL6A3): c.7401G> A (p.Ser2467=) single nucleotide variant Conflicting interpretations of pathogenicity rs377572272 GRCh38 Chromosome 2, 237344617: 237344617
28 COL6A3 NM_004369.3(COL6A3): c.5619C> T (p.His1873=) single nucleotide variant Conflicting interpretations of pathogenicity rs146355600 GRCh37 Chromosome 2, 238274560: 238274560
29 COL6A3 NM_004369.3(COL6A3): c.5619C> T (p.His1873=) single nucleotide variant Conflicting interpretations of pathogenicity rs146355600 GRCh38 Chromosome 2, 237365917: 237365917
30 COL6A3 NM_004369.3(COL6A3): c.3270C> T (p.Asp1090=) single nucleotide variant Conflicting interpretations of pathogenicity rs113781746 GRCh37 Chromosome 2, 238283464: 238283464
31 COL6A3 NM_004369.3(COL6A3): c.3270C> T (p.Asp1090=) single nucleotide variant Conflicting interpretations of pathogenicity rs113781746 GRCh38 Chromosome 2, 237374821: 237374821
32 COL6A3 NM_004369.3(COL6A3): c.292A> T (p.Thr98Ser) single nucleotide variant Benign/Likely benign rs76646066 GRCh37 Chromosome 2, 238303647: 238303647
33 COL6A3 NM_004369.3(COL6A3): c.292A> T (p.Thr98Ser) single nucleotide variant Benign/Likely benign rs76646066 GRCh38 Chromosome 2, 237395004: 237395004
34 COL6A3 NM_004369.3(COL6A3): c.7660G> A (p.Ala2554Thr) single nucleotide variant Uncertain significance rs786205870 GRCh38 Chromosome 2, 237344358: 237344358
35 COL6A3 NM_004369.3(COL6A3): c.7660G> A (p.Ala2554Thr) single nucleotide variant Uncertain significance rs786205870 GRCh37 Chromosome 2, 238253001: 238253001
36 COL6A2 NM_001849.3(COL6A2): c.2558G> A (p.Arg853Gln) single nucleotide variant Benign/Likely benign rs144830948 GRCh37 Chromosome 21, 47551964: 47551964
37 COL6A2 NM_001849.3(COL6A2): c.2558G> A (p.Arg853Gln) single nucleotide variant Benign/Likely benign rs144830948 GRCh38 Chromosome 21, 46132050: 46132050
38 COL6A2 NM_001849.3(COL6A2): c.2508C> A (p.Phe836Leu) single nucleotide variant Uncertain significance rs727502835 GRCh37 Chromosome 21, 47551914: 47551914
39 COL6A2 NM_001849.3(COL6A2): c.2508C> A (p.Phe836Leu) single nucleotide variant Uncertain significance rs727502835 GRCh38 Chromosome 21, 46132000: 46132000
40 COL6A2 NM_001849.3(COL6A2): c.911G> T (p.Gly304Val) single nucleotide variant Likely pathogenic rs727502832 GRCh37 Chromosome 21, 47536301: 47536301
41 COL6A2 NM_001849.3(COL6A2): c.857G> A (p.Gly286Glu) single nucleotide variant Likely pathogenic rs727502827 GRCh37 Chromosome 21, 47535924: 47535924
42 COL6A2 NM_001849.3(COL6A2): c.857G> A (p.Gly286Glu) single nucleotide variant Likely pathogenic rs727502827 GRCh38 Chromosome 21, 46116010: 46116010
43 COL6A2 NM_058175.2(COL6A2): c.148G> A (p.Val50Met) single nucleotide variant Uncertain significance rs727502826 GRCh37 Chromosome 21, 47531925: 47531925
44 COL6A2 NM_058175.2(COL6A2): c.148G> A (p.Val50Met) single nucleotide variant Uncertain significance rs727502826 GRCh38 Chromosome 21, 46112011: 46112011
45 COL6A1 NM_001848.2(COL6A1): c.2635A> G (p.Ser879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140534207 GRCh37 Chromosome 21, 47423475: 47423475
46 COL6A1 NM_001848.2(COL6A1): c.2635A> G (p.Ser879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140534207 GRCh38 Chromosome 21, 46003561: 46003561
47 COL6A1 NM_001848.2(COL6A1): c.1182+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs62215499 GRCh37 Chromosome 21, 47411989: 47411989
48 COL6A1 NM_001848.2(COL6A1): c.1182+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs62215499 GRCh38 Chromosome 21, 45992075: 45992075
49 COL6A2 NM_001849.3(COL6A2): c.911G> T (p.Gly304Val) single nucleotide variant Likely pathogenic rs727502832 GRCh38 Chromosome 21, 46116387: 46116387
50 COL6A3 NM_004369.3(COL6A3): c.3040A> G (p.Lys1014Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs114284669 GRCh37 Chromosome 2, 238285445: 238285445

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:

38
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 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
12.04 CAPN3 DMD LMNA
5
Show member pathways
11.84 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 10.61 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 8.96 DMD DYSF
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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