MCID: BTH005
MIFTS: 52

Bethlem Myopathy 1

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

Aliases & Classifications for Bethlem Myopathy 1

MalaCards integrated aliases for Bethlem Myopathy 1:

Name: Bethlem Myopathy 1 53 71 28
Bethlem Myopathy 53 12 72 49 55 71 36 28 13 51 14 69
Myopathy, Benign Congenital, with Contractures 53 49 71
Muscular Dystrophy, Benign Congenital 53 49 71
Bthlm1 53 71
Benign Congenital Muscular Dystrophy 12
Benign Autosomal Dominant Myopathy 55

Characteristics:

Orphanet epidemiological data:

55
bethlem myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

53
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:

31

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 158810
Disease Ontology 12 DOID:0050663
Orphanet 55 ORPHA610
MESH via Orphanet 42 C535436
UMLS via Orphanet 70 C1834674
ICD10 via Orphanet 33 G71.0
MedGen 39 C1834674
MeSH 41 D009136
KEGG 36 H01340
UMLS 69 C1834674

Summaries for Bethlem Myopathy 1

NIH Rare Diseases : 49 Bethlem myopathy is a rare disease affecting the skeletal muscles and connective tissue. The disease is characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles.  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 may be inherited in an autosomal recessive manner. Diagnosis is based on clinical examination and laboratory tests. Genetic testing may be used to confirm the diagnosis. Treatment depends on individual symptoms but routinely involves physical therapy. Surgery to correct joint contractures may be undertaken as needed.  Last updated: 9/8/2017

MalaCards based summary : Bethlem Myopathy 1, also known as bethlem myopathy, is related to ullrich congenital muscular dystrophy 1 and muscular dystrophy, congenital, lmna-related, and has symptoms including cachexia, joint stiffness and myopathy. 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 and skeletal muscle, and related phenotype is muscle.

UniProtKB/Swiss-Prot : 71 Bethlem myopathy 1: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.

Wikipedia : 72 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 51)
# Related Disease Score Top Affiliating Genes
1 ullrich congenital muscular dystrophy 1 30.3 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
2 muscular dystrophy, congenital, lmna-related 30.0 COL6A1 COL6A2 COL6A3 LMNA SELENON
3 muscular dystrophy, becker type 29.9 DMD DYSF
4 limb-girdle muscular dystrophy 29.5 CAPN3 DMD DYSF LMNA
5 muscular dystrophy, limb-girdle, type 2a 29.3 CAPN3 DMD DYSF LMNA
6 myopathy 28.9 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 DMD
7 muscular dystrophy 26.7 B3GALNT2 CAPN3 COL6A1 COL6A2 COL6A3 DMD
8 bethlem myopathy 2 12.4
9 collagen vi-related myopathy 11.4
10 collagen vi related muscular dystrophy 11.2
11 ehlers-danlos syndrome, kyphoscoliotic type, 2 11.0
12 ullrich congenital muscular dystrophy 2 11.0
13 isolated hyperckemia 10.3 CAPN3 DMD
14 polyglucosan body myopathy 1 with or without immunodeficiency 10.3 CAPN3 DMD
15 localized lipodystrophy 10.2 DMD DYSF
16 keloids 10.2
17 autosomal recessive limb-girdle muscular dystrophy type 2f 10.1 CAPN3 DYSF
18 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 CAPN3 DYSF
19 miyoshi muscular dystrophy 1 10.1 CAPN3 DYSF
20 muscular dystrophy, limb-girdle, type 2h 10.1 CAPN3 DYSF
21 myopathy, proximal, and ophthalmoplegia 10.1 COL6A1 COL6A2 LMNA
22 muscular dystrophy, limb-girdle, type 2d 10.1 CAPN3 DYSF
23 autosomal recessive limb-girdle muscular dystrophy type 2b 10.1 CAPN3 DYSF
24 stormorken syndrome 10.1 DMD DYSF
25 dysferlinopathy 10.1 CAPN3 DYSF
26 muscular dystrophy, limb-girdle, type 2g 10.0 CAPN3 DYSF
27 cardiomyopathy, dilated, 1a 10.0 DMD LMNA
28 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 CAPN3 DYSF
29 muscular dystrophy, congenital merosin-deficient, 1a 10.0 B3GALNT2 DMD LMNA
30 muscle disorders 10.0 COL6A1 COL6A2 COL6A3 SELENON
31 muscular dystrophy-dystroglycanopathy , type b, 5 10.0 DMD LMNA
32 muscular dystrophy, limb-girdle, type 2c 9.9 CAPN3 DMD DYSF
33 keloid formation 9.9
34 muscular dystrophy, limb-girdle, type 1a 9.9
35 ptosis 9.9
36 benign autosomal dominant myopathy 9.9
37 muscular dystrophy, limb-girdle, type 2f 9.9 CAPN3 DMD DYSF
38 myopathy, congenital 9.9 DMD SELENON
39 muscular dystrophy, limb-girdle, type 2b 9.9 CAPN3 DMD DYSF
40 distal muscular dystrophy 9.9 CAPN3 DMD DYSF
41 autosomal recessive limb-girdle muscular dystrophy 9.9 CAPN3 DMD DYSF
42 myositis 9.9 CAPN3 DMD DYSF
43 muscular dystrophy-dystroglycanopathy , type c, 14 9.7 GMPPB ISPD
44 muscular dystrophy-dystroglycanopathy , type c, 7 9.7 GMPPB ISPD
45 intrinsic cardiomyopathy 9.7 DMD LMNA
46 rigid spine muscular dystrophy 1 9.7 COL6A2 DMD DYSF SELENON
47 muscle tissue disease 9.6 CAPN3 DMD DYSF LMNA
48 congenital fiber-type disproportion 9.5 DMD DYSF LMNA SELENON
49 muscular dystrophy-dystroglycanopathy 9.5 B3GALNT2 GMPPB ISPD
50 muscle eye brain disease 9.3 B3GALNT2 DMD GMPPB ISPD

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:

53
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:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004326
2 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 myopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003198
4 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
5 camptodactyly of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0100490
6 torticollis 31 HP:0000473
7 neonatal hypotonia 31 HP:0001319
8 abnormality of the cardiovascular system 31 HP:0001626
9 respiratory insufficiency due to muscle weakness 31 HP:0002747
10 elevated serum creatine phosphokinase 31 HP:0003236
11 skeletal muscle atrophy 31 HP:0003202
12 decreased fetal movement 31 HP:0001558
13 motor delay 31 HP:0001270
14 congenital muscular torticollis 31 HP:0005988
15 distal muscle weakness 31 HP:0002460
16 proximal muscle weakness 31 HP:0003701
17 elbow flexion contracture 31 HP:0002987
18 ankle contracture 31 HP:0006466
19 limb-girdle muscle weakness 31 HP:0003325

MGI Mouse Phenotypes related to Bethlem Myopathy 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 DMD DYSF LMNA SELENON CAPN3 COL12A1

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
3 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 28 COL6A1 COL6A2 COL6A3
2 Bethlem Myopathy 28

Anatomical Context for Bethlem Myopathy 1

MalaCards organs/tissues related to Bethlem Myopathy 1:

38
Testes, Skeletal Muscle

Publications for Bethlem Myopathy 1

Articles related to Bethlem Myopathy 1:

(show top 50) (show all 58)
# Title Authors Year
1
Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy. ( 27563703 )
2016
2
Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation. ( 27421963 )
2016
3
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing. ( 25749816 )
2015
4
Detecting Collagen VI in Bethlem Myopathy. ( 25795730 )
2015
5
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI I+2(VI) chain. ( 25533456 )
2015
6
[Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene]. ( 25449070 )
2014
7
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. ( 25477819 )
2014
8
Progressive cardiac dysfunction in bethlem myopathy during pregnancy. ( 24413245 )
2014
9
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. ( 25535305 )
2014
10
Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. ( 25477818 )
2014
11
Bethlem myopathy: pregnancy and delivery. ( 23832171 )
2014
12
Muscle MRI in Bethlem myopathy. ( 23595177 )
2013
13
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. ( 24163611 )
2013
14
Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis. ( 24339618 )
2013
15
Spontaneous keloid formation in patients with Bethlem myopathy. ( 23170014 )
2012
16
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 21496625 )
2011
17
Bethlem myopathy: a study of two families. ( 20739820 )
2010
18
Autosomal recessive Bethlem myopathy. ( 19949035 )
2009
19
Autosomal recessive inheritance of classic Bethlem myopathy. ( 19884007 )
2009
20
A refined diagnostic algorithm for Bethlem myopathy. ( 18378883 )
2008
21
Cardiac involvement in Bethlem myopathy. ( 17562947 )
2007
22
Molecular consequences of dominant Bethlem myopathy collagen VI mutations. ( 17886299 )
2007
23
Cardiac and pulmonary investigations in Bethlem myopathy. ( 17101832 )
2006
24
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. ( 16278855 )
2006
25
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. ( 16258657 )
2005
26
[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. ( 16447767 )
2005
27
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15792870 )
2005
28
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15689448 )
2005
29
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. ( 15955946 )
2005
30
Muscle ultrasound in Bethlem myopathy. ( 14681763 )
2003
31
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. ( 12467756 )
2002
32
Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. ( 11707460 )
2002
33
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. ( 11865138 )
2002
34
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. ( 11932968 )
2002
35
Muscle MRI findings in a three-generation family affected by Bethlem myopathy. ( 12401455 )
2002
36
Bethlem myopathy in a black creole pedigree. ( 19078680 )
2002
37
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. ( 11801404 )
2002
38
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. ( 12374585 )
2002
39
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. ( 11562567 )
2001
40
Bethlem myopathy in a Taiwanese family. ( 11480253 )
2001
41
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
42
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. ( 10419498 )
1999
43
Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. ( 10407855 )
1999
44
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
45
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. ( 10399756 )
1999
46
Respiratory muscle involvement in Bethlem myopathy. ( 9921869 )
1999
47
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. ( 10219778 )
1999
48
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. ( 9536084 )
1998
49
Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. ( 9817932 )
1998
50
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. ( 9580662 )
1998

Variations for Bethlem Myopathy 1

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

71 (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
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 99)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL6A3 COL6A3, IVS15DS, GT-TC, +1 undetermined variant Pathogenic
2 COL6A3 NM_004369.3(COL6A3): c.5177T> G (p.Leu1726Arg) single nucleotide variant Pathogenic rs121434555 GRCh37 Chromosome 2, 238275653: 238275653
3 COL6A2 NM_001849.3(COL6A2): c.811G> A (p.Gly271Ser) single nucleotide variant Pathogenic rs121912940 GRCh37 Chromosome 21, 47535795: 47535795
4 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 GRCh37 Chromosome 21, 47545423: 47545423
5 COL6A2 COL6A2, IVS10AS, A-G, -2 single nucleotide variant Pathogenic
6 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Pathogenic/Likely pathogenic rs267606747 GRCh37 Chromosome 21, 47546058: 47546058
7 COL6A1 NM_001848.2(COL6A1): c.1577G> T (p.Gly526Val) single nucleotide variant Pathogenic rs121912934 GRCh37 Chromosome 21, 47418313: 47418313
8 COL6A1 COL6A1, IVS11AS, G-A, -1 single nucleotide variant Pathogenic
9 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs797044456 GRCh38 Chromosome 21, 45990828: 45990828
10 COL6A1 NM_001848.2(COL6A1): c.1022G> A (p.Gly341Asp) single nucleotide variant Pathogenic rs121912935 GRCh37 Chromosome 21, 47410706: 47410706
11 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh37 Chromosome 21, 47410741: 47410741
12 COL6A1 COL6A1, IVS3DS, G-A, +1 single nucleotide variant Pathogenic
13 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh37 Chromosome 21, 47409043: 47409043
14 COL6A2 NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs387906609 GRCh37 Chromosome 21, 47537830: 47537830
15 COL6A2 NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn) single nucleotide variant Pathogenic/Likely pathogenic rs387906610 GRCh37 Chromosome 21, 47552017: 47552017
16 COL6A2 NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp) single nucleotide variant Likely pathogenic rs397515333 GRCh37 Chromosome 21, 47535787: 47535787
17 COL6A1 NM_001848.2(COL6A1): c.805-2A> G single nucleotide variant Pathogenic rs398123639 GRCh37 Chromosome 21, 47408996: 47408996
18 COL6A1 NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs121912939 GRCh37 Chromosome 21, 47409531: 47409531
19 COL6A1 NM_001848.2(COL6A1): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398123643 GRCh37 Chromosome 21, 47409540: 47409540
20 COL6A1 NM_001848.2(COL6A1): c.896G> A (p.Gly299Glu) single nucleotide variant Likely pathogenic rs398123644 GRCh37 Chromosome 21, 47409559: 47409559
21 COL6A2 NM_001849.3(COL6A2): c.1461delA (p.Ser488Leufs) deletion Pathogenic rs398123645 GRCh37 Chromosome 21, 47541472: 47541472
22 COL6A2 NM_001849.3(COL6A2): c.1522-1G> A single nucleotide variant Pathogenic rs398123646 GRCh37 Chromosome 21, 47542021: 47542021
23 COL6A2 NM_001849.3(COL6A2): c.855+2T> G single nucleotide variant Pathogenic rs113525292 GRCh37 Chromosome 21, 47535841: 47535841
24 COL6A3 NM_004369.3(COL6A3): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic rs398124119 GRCh37 Chromosome 2, 238303764: 238303764
25 COL6A3 NM_004369.3(COL6A3): c.6210+1G> A single nucleotide variant Pathogenic rs398124126 GRCh37 Chromosome 2, 238269763: 238269763
26 COL6A3 NM_004369.3(COL6A3): c.6282+1G> A single nucleotide variant Pathogenic rs398124128 GRCh37 Chromosome 2, 238268730: 238268730
27 COL6A2 NM_001849.3(COL6A2): c.911G> T (p.Gly304Val) single nucleotide variant Likely pathogenic rs727502832 GRCh38 Chromosome 21, 46116387: 46116387
28 COL6A1 NM_001848.2(COL6A1): c.904G> C (p.Gly302Arg) single nucleotide variant Pathogenic rs794727028 GRCh37 Chromosome 21, 47409666: 47409666
29 COL6A1 NM_001848.2(COL6A1): c.957+2T> C single nucleotide variant Pathogenic rs794727060 GRCh37 Chromosome 21, 47410200: 47410200
30 COL6A3 NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp) single nucleotide variant Pathogenic rs794727188 GRCh37 Chromosome 2, 238268774: 238268774
31 COL6A3 NM_004369.3(COL6A3): c.6293G> T (p.Gly2098Val) single nucleotide variant Pathogenic rs794727206 GRCh37 Chromosome 2, 238268021: 238268021
32 COL6A2 NM_001849.3(COL6A2): c.801+1G> A single nucleotide variant Pathogenic rs794727715 GRCh37 Chromosome 21, 47533988: 47533988
33 COL6A2 NM_001849.3(COL6A2): c.812G> A (p.Gly271Asp) single nucleotide variant Pathogenic rs794727788 GRCh37 Chromosome 21, 47535796: 47535796
34 COL6A2 NM_001849.3(COL6A2): c.875G> T (p.Gly292Val) single nucleotide variant Pathogenic rs794727855 GRCh37 Chromosome 21, 47535942: 47535942
35 COL6A3 NM_004369.3(COL6A3): c.6283-2A> C single nucleotide variant Likely pathogenic rs797044988 GRCh37 Chromosome 2, 238268033: 238268033
36 COL6A2 NM_001849.3(COL6A2): c.2096G> A (p.Gly699Asp) single nucleotide variant Likely pathogenic rs863224861 GRCh38 Chromosome 21, 46125911: 46125911
37 COL6A3 NM_004369.3(COL6A3): c.7264C> T (p.Arg2422Ter) single nucleotide variant Likely pathogenic rs878854379 GRCh37 Chromosome 2, 238253397: 238253397
38 COL6A2 NM_001849.3(COL6A2): c.954G> T (p.Lys318Asn) single nucleotide variant Likely pathogenic rs878854362 GRCh37 Chromosome 21, 47536591: 47536591
39 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic rs886042354 GRCh37 Chromosome 21, 47410171: 47410171
40 COL6A3 NM_004369.3(COL6A3): c.5010T> A (p.Tyr1670Ter) single nucleotide variant Pathogenic rs886042402 GRCh37 Chromosome 2, 238275820: 238275820
41 COL6A1 NM_001848.2(COL6A1): c.1022G> T (p.Gly341Val) single nucleotide variant Pathogenic rs121912935 GRCh37 Chromosome 21, 47410706: 47410706
42 COL6A3 NM_004369.3(COL6A3): c.4124delA (p.Gln1375Argfs) deletion Pathogenic rs886042447 GRCh37 Chromosome 2, 238280536: 238280536
43 COL6A2 NM_001849.3(COL6A2): c.920G> T (p.Gly307Val) single nucleotide variant Likely pathogenic rs886042541 GRCh37 Chromosome 21, 47536310: 47536310
44 COL6A3 NM_004369.3(COL6A3): c.7796_7797delTT (p.Phe2599Trpfs) deletion Pathogenic rs886042623 GRCh37 Chromosome 2, 238249762: 238249763
45 COL6A1 NM_001848.2(COL6A1): c.1075_1076delGGinsAA (p.Gly359Asn) indel Likely pathogenic rs886042646 GRCh37 Chromosome 21, 47410911: 47410912
46 COL6A1 NM_001848.2(COL6A1): c.914G> A (p.Gly305Glu) single nucleotide variant Likely pathogenic rs886042684 GRCh37 Chromosome 21, 47409676: 47409676
47 COL6A1 NM_001848.2(COL6A1): c.1603G> A (p.Gly535Arg) single nucleotide variant Likely pathogenic rs764556767 GRCh37 Chromosome 21, 47418339: 47418339
48 COL6A2 NM_001849.3(COL6A2): c.901G> A (p.Gly301Ser) single nucleotide variant Pathogenic rs886042705 GRCh37 Chromosome 21, 47536291: 47536291
49 COL6A1 NM_001848.2(COL6A1): c.1611+1G> A single nucleotide variant Pathogenic rs886042748 GRCh37 Chromosome 21, 47418348: 47418348
50 COL6A1 NM_001848.2(COL6A1): c.805G> A (p.Gly269Arg) single nucleotide variant Likely pathogenic rs886042856 GRCh37 Chromosome 21, 47408998: 47408998

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:

36
# 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
12.99 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3
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
12.08 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 10.77 B3GALNT2 ISPD
11 10.68 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 complex GO:0043234 9.78 CAPN3 COL6A1 COL6A2 DMD
2 endoplasmic reticulum lumen GO:0005788 9.71 COL12A1 COL6A1 COL6A2 COL6A3
3 proteinaceous extracellular matrix GO:0005578 9.65 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
4 extracellular matrix GO:0031012 9.63 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5 LMNA
5 extracellular vesicle GO:1903561 9.54 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 9.32 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 9.61 COL6A1 COL6A2 COL6A3
2 endodermal cell differentiation GO:0035987 9.4 COL12A1 COL6A1
3 muscle cell cellular homeostasis GO:0046716 9.37 CAPN3 DMD
4 cell adhesion GO:0007155 9.35 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
5 muscle organ development GO:0007517 9.33 CAPN3 COL6A3 DMD
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.32 DMD SELENON
7 protein heterotrimerization GO:0070208 9.26 COL6A1 COL6A2
8 collagen catabolic process GO:0030574 9.02 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.62 CAPN3 DMD

Sources for Bethlem Myopathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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