BTHLM1
MCID: BTH005
MIFTS: 61

Bethlem Myopathy 1 (BTHLM1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bethlem Myopathy 1

MalaCards integrated aliases for Bethlem Myopathy 1:

Name: Bethlem Myopathy 1 57 72 29 6
Bethlem Myopathy 57 12 73 20 58 72 36 29 13 54 6 15 70
Myopathy, Benign Congenital, with Contractures 57 20 72
Muscular Dystrophy, Benign Congenital 57 20 72
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 57 72
Bthlm1 57 72
Lgmdd5 57 72
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5; Lgmdd5 57
Benign Congenital Muscular Dystrophy 12
Benign Autosomal Dominant Myopathy 58
Myopathy, Bethlem, Type 1 39
Myopathy, Bethlem 39

Characteristics:

Orphanet epidemiological data:

58
bethlem myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slow progression
variable severity
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

Inheritance:
autosomal recessive
autosomal dominant


HPO:

31

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050663
OMIM® 57 158810
OMIM Phenotypic Series 57 PS158810 PS603511
KEGG 36 H01340
MeSH 44 D009136
MESH via Orphanet 45 C535436
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C1834674
Orphanet 58 ORPHA610
MedGen 41 C1834674
UMLS 70 C1834674

Summaries for Bethlem Myopathy 1

GARD : 20 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 collagen vi-related dystrophies. An important gene associated with Bethlem Myopathy 1 is COL6A3 (Collagen Type VI Alpha 3 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include skeletal muscle, skin and heart, 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.

KEGG : 36 Bethlem myopathy is one of the collagen VI myopathies, caused by mutation of COL6A. Bethlem myopathy is usually inherited in an autosomal dominant manner, but a rare autosomal recessive inheritance has recently been reported. This disease is characterized by a combination of proximal muscle weakness and contractures of finger, elbow, and ankle joints.

UniProtKB/Swiss-Prot : 72 Bethlem myopathy 1: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.

Wikipedia : 73 Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular... more...

More information from OMIM: 158810 PS158810 PS603511

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 114)
# Related Disease Score Top Affiliating Genes
1 collagen vi-related myopathy 32.7 FTCD COL6A3 COL6A2 COL6A1
2 collagen vi-related dystrophies 31.6 COL6A3 COL6A2 COL6A1
3 ullrich congenital muscular dystrophy 1 31.2 SELENON PPIF LMNA LAMA2 ITGA7 FKRP
4 myopathy 31.0 SELENON LMNA LAMA2 ITGA7 FKRP DYSF
5 limb-girdle muscular dystrophy 30.9 LMNA LAMA2 FKRP DYSF CAPN3
6 batten-turner congenital myopathy 30.8 SELENON ITGA7 DYSF DMD
7 muscular dystrophy, duchenne type 30.8 LAMA2 ITGA7 DMD DAG1
8 muscular dystrophy 30.7 SELENON LMNA LAMA2 ITGA7 FKRP DYSF
9 muscular dystrophy, congenital, lmna-related 30.6 SELENON LMNA LAMA2 ITGA7 FKRP DYSF
10 myosclerosis, autosomal recessive 30.6 FTCD COL6A2
11 respiratory failure 30.6 SELENON LAMA2 FKRP DMD
12 limb-girdle muscular dystrophy type 1a 30.6 FKRP DYSF CAPN3
13 muscular dystrophy, becker type 30.3 LAMA2 FKRP DYSF DMD DAG1 CAPN3
14 neuromuscular disease 30.3 SELENON LMNA LAMA2 FKRP DYSF DMD
15 bethlem myopathy 2 11.7
16 collagen vi related muscular dystrophy 11.2
17 ullrich congenital muscular dystrophy 2 11.1
18 rigid spine muscular dystrophy 10.5 SELENON LMNA
19 medullary sponge kidney 10.4 LAMA2 CLCN5
20 localized lipodystrophy 10.4 DYSF DMD
21 congenital muscular dystrophy-dystroglycanopathy type a10 10.4 SELENON LAMA2
22 paresthesia 10.4 FKRP CAPN3
23 congenital muscular dystrophy-dystroglycanopathy a14 10.4 SELENON LAMA2 DAG1
24 congenital muscular dystrophy-dystroglycanopathy type a1 10.4 FKRP DAG1
25 nail disorder, nonsyndromic congenital, 8 10.4 COL6A6 COL6A2
26 congenital muscular dystrophy-dystroglycanopathy type a5 10.4 FKRP DAG1
27 cardiomyopathy, dilated, 3b 10.4 DYSF DMD DAG1
28 cobblestone lissencephaly 10.4 FKRP DMD DAG1
29 myopathy, myofibrillar, 3 10.4 DYSF DMD CAPN3
30 autosomal recessive limb-girdle muscular dystrophy type 2j 10.4 FKRP DYSF CAPN3
31 muscular dystrophy, limb-girdle, autosomal recessive 4 10.4 FKRP DYSF CAPN3
32 muscular dystrophy, limb-girdle, autosomal recessive 8 10.4 FKRP DYSF CAPN3
33 muscular dystrophy-dystroglycanopathy , type b, 5 10.4 LAMA2 FKRP DAG1
34 muscular dystrophy, limb-girdle, autosomal dominant 1 10.4 DYSF CRYAA CAPN3
35 limb-girdle muscular dystrophy type 1c 10.4 FKRP DYSF
36 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.4 LAMA2 ITGA7 DAG1
37 muscular dystrophy-dystroglycanopathy , type c, 1 10.4 FKRP DAG1 ANO5
38 polyglucosan body myopathy 1 with or without immunodeficiency 10.4 FKRP DMD COL6A2 CAPN3
39 miyoshi muscular dystrophy 3 10.4 DYSF CAPN3 ANO5
40 congenital muscular dystrophy-dystroglycanopathy type a 10.4 LAMA2 FKRP DMD DAG1
41 muscular dystrophy, limb-girdle, autosomal recessive 7 10.3 FKRP DYSF DMD CAPN3
42 muscle eye brain disease 10.3 LAMA2 FKRP DMD DAG1
43 myopathy, myofibrillar, 1 10.3 SELENON LMNA DMD CAPN3
44 muscular dystrophy, limb-girdle, autosomal recessive 6 10.3 FKRP DYSF DMD CAPN3
45 creatine phosphokinase, elevated serum 10.3 LAMA2 DMD CAPN3 ANO5
46 muscular dystrophy, congenital, 1b 10.3 LAMA2 ITGA7 FKRP DAG1
47 muscular dystrophy-dystroglycanopathy , type c, 14 10.3 DAG1 ANO5
48 congenital muscular dystrophy-dystroglycanopathy type a11 10.3 SELENON DAG1
49 x-linked monogenic disease 10.3 DMD DAG1 CRYAA CLCN5
50 muscular dystrophy-dystroglycanopathy , type c, 3 10.3 FKRP DAG1 ANO5

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:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
3 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
4 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
5 progressive proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009073
6 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
7 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
8 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
9 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
10 muscular dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003560
11 ankle flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006466
12 proximal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007126
13 follicular hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007502
14 myopathy 31 HP:0003198
15 abnormality of the cardiovascular system 31 HP:0001626
16 skeletal muscle atrophy 31 HP:0003202
17 elevated serum creatine kinase 31 HP:0003236
18 elbow flexion contracture 31 HP:0002987
19 respiratory insufficiency due to muscle weakness 31 HP:0002747
20 motor delay 31 HP:0001270
21 decreased fetal movement 31 HP:0001558
22 congenital muscular torticollis 31 HP:0005988
23 distal muscle weakness 31 HP:0002460
24 proximal muscle weakness 31 HP:0003701
25 limb-girdle muscle weakness 31 HP:0003325

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.23 ANO5 COL6A1 COL6A3 CRYAA DMD DYSF

MGI Mouse Phenotypes related to Bethlem Myopathy 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 ANO5 COL12A1 COL6A1 COL6A2 COL6A3 DAG1
2 cellular MP:0005384 10.1 ANO5 CLCN5 COL12A1 COL6A3 DAG1 DMD
3 growth/size/body region MP:0005378 10.1 ANO5 CAPN3 CLCN5 COL12A1 COL6A1 COL6A2
4 homeostasis/metabolism MP:0005376 9.97 ANO5 CAPN3 CLCN5 COL6A1 DAG1 DMD
5 muscle MP:0005369 9.77 ANO5 CAPN3 COL12A1 COL6A1 COL6A3 DAG1
6 skeleton MP:0005390 9.36 ANO5 CLCN5 COL12A1 COL6A1 COL6A3 DMD

Drugs & Therapeutics for Bethlem Myopathy 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Low Protein Diet to Correct Defective Autophagy in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 MR in Patients With Neuromuscular Diseases Unknown status NCT03693898
3 The Effect of a Bike Ergometer Training Program in Patients With Bethlem Myopathy Completed NCT01895283
4 Global Registry for COL6-related Dystrophies Recruiting NCT04020159

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:

40
Skeletal Muscle, Skin, Heart, Bone, Endothelial

Publications for Bethlem Myopathy 1

Articles related to Bethlem Myopathy 1:

(show top 50) (show all 237)
# Title Authors PMID Year
1
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. 54 6 57 61
15955946 2005
2
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 54 6 57 61
15689448 2005
3
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. 57 6 54 61
11932968 2002
4
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. 6 57 61
24038877 2013
5
Early onset collagen VI myopathies: Genetic and clinical correlations. 61 6 57
20976770 2010
6
Autosomal recessive Bethlem myopathy. 57 6 61
19949035 2009
7
A refined diagnostic algorithm for Bethlem myopathy. 57 6 61
18378883 2008
8
Molecular consequences of dominant Bethlem myopathy collagen VI mutations. 6 61 57
17886299 2007
9
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 61 57 6
8782832 1996
10
Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families. 6 57 61
7881296 1994
11
Autosomal recessive inheritance of classic Bethlem myopathy. 6 61 54
19884007 2009
12
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 61 6 54
18366090 2008
13
Collagen VI related muscle disorders. 61 54 57
16141002 2005
14
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 6 61 54
15563506 2005
15
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. 6 54 61
12840783 2003
16
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 54 6 61
11865138 2002
17
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. 61 54 6
9580662 1998
18
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 54 61 6
9536084 1998
19
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. 54 57 61
8817344 1996
20
Genetic localization of Bethlem myopathy. 57 54 61
8618682 1996
21
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies. 6 61
29419890 2018
22
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts. 6 61
29342313 2018
23
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. 61 6
28831785 2017
24
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 6 61
28688748 2017
25
A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation. 61 6
28984114 2017
26
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum. 61 6
27854213 2016
27
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. 61 6
25535305 2015
28
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing. 61 6
25749816 2015
29
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain. 61 6
25533456 2015
30
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. 61 6
25204870 2015
31
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 6 61
24907562 2014
32
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. 6 61
24334769 2014
33
Natural history of pulmonary function in collagen VI-related myopathies. 61 6
24271325 2013
34
Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. 6 61
22075033 2012
35
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. 6 61
21280092 2011
36
Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy. 57 61
20716577 2010
37
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. 61 6
20576434 2010
38
Autosomal recessive myosclerosis myopathy is a collagen VI disorder. 6 61
18852439 2008
39
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. 61 6
18825676 2008
40
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. 57 61
18362356 2008
41
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. 6 61
10419498 1999
42
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. 6 61
10329467 1999
43
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. 57 61
10219778 1999
44
Respiratory muscle involvement in Bethlem myopathy. 57 61
9921869 1999
45
Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. 6 61
9334230 1997
46
Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. 57 61
8533815 1995
47
Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy). 61 57
3352914 1988
48
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. 6
30895940 2019
49
Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy. 6
31044083 2019
50
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. 6
30564623 2018

Variations for Bethlem Myopathy 1

ClinVar genetic disease variations for Bethlem Myopathy 1:

6 (show top 50) (show all 2847)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL12A1 NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp) SNV Pathogenic 204296 rs796052094 GRCh37: 6:75812371-75812371
GRCh38: 6:75102655-75102655
2 COL12A1 NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) SNV Pathogenic 475858 rs1329022055 GRCh37: 6:75865511-75865511
GRCh38: 6:75155795-75155795
3 COL12A1 NM_004370.6(COL12A1):c.3994del (p.Ala1332fs) Deletion Pathogenic 475862 rs1554182935 GRCh37: 6:75861589-75861589
GRCh38: 6:75151873-75151873
4 COL12A1 NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter) SNV Pathogenic 647130 rs1582139761 GRCh37: 6:75861924-75861924
GRCh38: 6:75152208-75152208
5 COL12A1 NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter) SNV Pathogenic 642795 rs371399251 GRCh37: 6:75801078-75801078
GRCh38: 6:75091362-75091362
6 COL12A1 NM_004370.6(COL12A1):c.4738del (p.Ser1580fs) Deletion Pathogenic 657345 rs1471550984 GRCh37: 6:75853057-75853057
GRCh38: 6:75143341-75143341
7 COL12A1 NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter) SNV Pathogenic 659962 rs1562223444 GRCh37: 6:75857508-75857508
GRCh38: 6:75147792-75147792
8 COL12A1 NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs) Deletion Pathogenic 661356 rs1582068925 GRCh37: 6:75822944-75822945
GRCh38: 6:75113228-75113229
9 COL12A1 NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs) Duplication Pathogenic 642260 rs1582133194 GRCh37: 6:75858188-75858189
GRCh38: 6:75148472-75148473
10 COL12A1 NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter) SNV Pathogenic 835532 GRCh37: 6:75812345-75812345
GRCh38: 6:75102629-75102629
11 COL12A1 NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) SNV Pathogenic 204297 rs200487396 GRCh37: 6:75841700-75841700
GRCh38: 6:75131984-75131984
12 COL12A1 NM_004370.6(COL12A1):c.8100+2T>C SNV Pathogenic 843473 GRCh37: 6:75818732-75818732
GRCh38: 6:75109016-75109016
13 COL12A1 NM_004370.6(COL12A1):c.4177del (p.Ile1393fs) Deletion Pathogenic 861370 GRCh37: 6:75858184-75858184
GRCh38: 6:75148468-75148468
14 COL12A1 NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter) SNV Pathogenic 940321 GRCh37: 6:75839892-75839892
GRCh38: 6:75130176-75130176
15 COL12A1 NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter) SNV Pathogenic 945967 GRCh37: 6:75834083-75834083
GRCh38: 6:75124367-75124367
16 COL12A1 NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs) Duplication Pathogenic 961675 GRCh37: 6:75857393-75857394
GRCh38: 6:75147677-75147678
17 COL12A1 NC_000006.12:g.75117547del Deletion Pathogenic 960454 GRCh37: 6:75827261-75827261
GRCh38: 6:75117545-75117545
18 COL12A1 NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) SNV Pathogenic 204295 rs796052093 GRCh37: 6:75831103-75831103
GRCh38: 6:75121387-75121387
19 COL6A3 NM_004369.3(COL6A3):c.5036G>A (p.Gly1679Glu) SNV Pathogenic 17149 rs121434553 GRCh37: 2:238275794-238275794
GRCh38: 2:237367151-237367151
20 COL6A3 COL6A3, IVS15DS, GT-TC, +1 Variation Pathogenic 17153 GRCh37:
GRCh38:
21 COL6A3 NM_004369.3(COL6A3):c.5177T>G (p.Leu1726Arg) SNV Pathogenic 17154 rs121434555 GRCh37: 2:238275653-238275653
GRCh38: 2:237367010-237367010
22 COL6A2 NM_001849.3(COL6A2):c.811G>A (p.Gly271Ser) SNV Pathogenic 17155 rs121912940 GRCh37: 21:47535795-47535795
GRCh38: 21:46115881-46115881
23 COL6A2 NM_001849.3(COL6A2):c.1861G>A (p.Asp621Asn) SNV Pathogenic 17159 rs267606750 GRCh37: 21:47545423-47545423
GRCh38: 21:46125509-46125509
24 COL6A2 NM_001849.3(COL6A2):c.1000-2A>G SNV Pathogenic 17163 rs1555873356 GRCh37: 21:47537312-47537312
GRCh38: 21:46117398-46117398
25 COL6A1 NM_001848.2(COL6A1):c.1577G>T (p.Gly526Val) SNV Pathogenic 17169 rs121912934 GRCh37: 21:47418313-47418313
GRCh38: 21:45998399-45998399
26 COL6A1 NM_001848.2(COL6A1):c.931-1G>A SNV Pathogenic 17170 rs886042354 GRCh37: 21:47410171-47410171
GRCh38: 21:45990257-45990257
27 COL6A1 NM_001848.3(COL6A1):c.1056+2T>C SNV Pathogenic 17171 rs797044456 GRCh37: 21:47410742-47410742
GRCh38: 21:45990828-45990828
28 COL6A1 NM_001848.2(COL6A1):c.1022G>A (p.Gly341Asp) SNV Pathogenic 17172 rs121912935 GRCh37: 21:47410706-47410706
GRCh38: 21:45990792-45990792
29 COL6A1 NM_001848.2(COL6A1):c.428+1G>A SNV Pathogenic 17176 rs1569517717 GRCh37: 21:47404384-47404384
GRCh38: 21:45984470-45984470
30 COL6A3 NM_004369.3(COL6A3):c.6239G>A (p.Gly2080Asp) SNV Pathogenic 194744 rs794727188 GRCh37: 2:238268774-238268774
GRCh38: 2:237360131-237360131
31 COL12A1 NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) SNV Pathogenic 853507 GRCh37: 6:75858121-75858121
GRCh38: 6:75148405-75148405
32 COL6A2 NM_001849.3(COL6A2):c.875G>T (p.Gly292Val) SNV Pathogenic 198473 rs794727855 GRCh37: 21:47535942-47535942
GRCh38: 21:46116028-46116028
33 COL6A1 NM_001848.2(COL6A1):c.1022G>T (p.Gly341Val) SNV Pathogenic 282533 rs121912935 GRCh37: 21:47410706-47410706
GRCh38: 21:45990792-45990792
34 COL6A3 NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) SNV Pathogenic 94911 rs398124119 GRCh37: 2:238303764-238303764
GRCh38: 2:237395121-237395121
35 COL6A3 NM_004369.3(COL6A3):c.6354+1G>A SNV Pathogenic 285748 rs886042883 GRCh37: 2:238267848-238267848
GRCh38: 2:237359205-237359205
36 COL6A2 NM_001849.3(COL6A2):c.838G>C (p.Gly280Arg) SNV Pathogenic 286150 rs886043323 GRCh37: 21:47535822-47535822
GRCh38: 21:46115908-46115908
37 COL6A3 NM_004369.3(COL6A3):c.6230G>T (p.Gly2077Val) SNV Pathogenic 476547 rs1553553646 GRCh37: 2:238268783-238268783
GRCh38: 2:237360140-237360140
38 COL6A2 NM_001849.3(COL6A2):c.1751del (p.Pro584fs) Deletion Pathogenic 290249 rs886044398 GRCh37: 21:47544810-47544810
GRCh38: 21:46124896-46124896
39 COL6A2 NM_001849.3(COL6A2):c.812G>T (p.Gly271Val) SNV Pathogenic 476493 rs794727788 GRCh37: 21:47535796-47535796
GRCh38: 21:46115882-46115882
40 COL6A2 NM_001849.3(COL6A2):c.874G>C (p.Gly292Arg) SNV Pathogenic 476496 rs727502828 GRCh37: 21:47535941-47535941
GRCh38: 21:46116027-46116027
41 COL6A2 NM_001849.3(COL6A2):c.2002G>T (p.Glu668Ter) SNV Pathogenic 476462 rs138948335 GRCh37: 21:47545731-47545731
GRCh38: 21:46125817-46125817
42 COL6A1 NM_001848.2(COL6A1):c.1003-2del Deletion Pathogenic 476406 rs1556425835 GRCh37: 21:47410685-47410685
GRCh38: 21:45990771-45990771
43 COL6A1 NM_001848.2(COL6A1):c.823G>T (p.Gly275Trp) SNV Pathogenic 476439 rs1556425467 GRCh37: 21:47409016-47409016
GRCh38: 21:45989102-45989102
44 COL6A3 NM_004369.3(COL6A3):c.76C>T (p.Gln26Ter) SNV Pathogenic 476558 rs763187844 GRCh37: 2:238305385-238305385
GRCh38: 2:237396742-237396742
45 COL6A3 NM_004369.3(COL6A3):c.6220G>A (p.Gly2074Ser) SNV Pathogenic 289755 rs886044252 GRCh37: 2:238268793-238268793
GRCh38: 2:237360150-237360150
46 COL6A2 NM_001849.3(COL6A2):c.1459-2A>G SNV Pathogenic 476452 rs749974929 GRCh37: 21:47541468-47541468
GRCh38: 21:46121554-46121554
47 COL6A2 NM_001849.3(COL6A2):c.115+2T>C SNV Pathogenic 476449 rs770842374 GRCh37: 21:47531507-47531507
GRCh38: 21:46111593-46111593
48 COL6A2 NM_001849.4(COL6A2):c.1970-9G>A SNV Pathogenic 265506 rs747900252 GRCh37: 21:47545690-47545690
GRCh38: 21:46125776-46125776
49 COL6A1 NM_001848.2(COL6A1):c.148del (p.Ala49_Leu50insTer) Deletion Pathogenic 476414 rs1556423728 GRCh37: 21:47402596-47402596
GRCh38: 21:45982682-45982682
50 COL6A1 NM_001848.2(COL6A1):c.868G>T (p.Gly290Trp) SNV Pathogenic 476441 rs121912939 GRCh37: 21:47409531-47409531
GRCh38: 21:45989617-45989617

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

72 (show all 23)
# 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.Gly272Asp VAR_058214 rs106479384
5 COL6A1 p.Pro274Leu VAR_058215 rs201093313
6 COL6A1 p.Gly275Arg VAR_058216 rs155642546
7 COL6A1 p.Gly290Arg VAR_058219 rs121912939
8 COL6A1 p.Gly341Val VAR_058221 rs121912935
9 COL6A1 p.Lys571Thr VAR_058222 rs751040647
10 COL6A2 p.Gly271Ser VAR_013589 rs121912940
11 COL6A2 p.Asp621Asn VAR_013590 rs267606750
12 COL6A2 p.Gly700Ser VAR_058231 rs794727418
13 COL6A2 p.Cys777Arg VAR_058233 rs267606747
14 COL6A2 p.Pro932Leu VAR_058241 rs117725825
15 COL6A3 p.Gly1679Glu VAR_001910 rs121434553
16 COL6A3 p.Lys1014Glu VAR_058248 rs114284669
17 COL6A3 p.Glu1386Lys VAR_058250 rs146092501
18 COL6A3 p.Asn1467Asp VAR_058252 rs138049094
19 COL6A3 p.Leu1726Arg VAR_058257 rs121434555
20 COL6A3 p.Val1985Met VAR_058258 rs200478135
21 COL6A3 p.Gly2047Asp VAR_058259
22 COL6A3 p.Gly2056Arg VAR_058260
23 COL6A3 p.Gly2080Asp VAR_058261 rs794727188

Copy number variations for Bethlem Myopathy 1 from CNVD:

7
# CNVD ID Chromosome 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.24 LAMA2 ITGA7 COL6A3 COL6A2 COL6A1 COL12A1
2
Show member pathways
12.91 LAMA2 ITGA7 COL6A3 COL6A2 COL6A1 COL12A1
3
Show member pathways
12.81 LAMA2 ITGA7 COL6A6 COL6A5 COL6A3 COL6A2
4
Show member pathways
12.67 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1 COL12A1
5
Show member pathways
12.63 LAMA2 ITGA7 COL6A6 COL6A5 COL6A3 COL6A2
6
Show member pathways
12.5 LMNA ITGA7 DMD DAG1 CAPN3
7
Show member pathways
12.31 LAMA2 ITGA7 DMD DAG1
8
Show member pathways
12.04 LMNA LAMA2 ITGA7 DMD DAG1
9
Show member pathways
12.02 LAMA2 ITGA7 DMD DAG1 COL6A6 COL6A5
10 11.9 LMNA LAMA2 ITGA7 DMD DAG1
11
Show member pathways
11.75 LAMA2 ITGA7 DAG1 COL6A6 COL6A5 COL6A3
12 11.46 LAMA2 ITGA7 DAG1
13 11.3 COL6A3 COL6A2 COL6A1
14 11.12 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1
15 10.86 LAMA2 ITGA7 COL6A3 COL6A2 COL6A1 COL12A1
16 10.86 LAMA2 DMD DAG1

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 extracellular region GO:0005576 10.02 LAMA2 FKRP DAG1 COL6A6 COL6A5 COL6A3
2 collagen-containing extracellular matrix GO:0062023 9.76 LAMA2 DAG1 COL6A6 COL6A5 COL6A3 COL6A2
3 endoplasmic reticulum lumen GO:0005788 9.72 DAG1 COL6A3 COL6A2 COL6A1 COL12A1
4 extracellular matrix GO:0031012 9.71 COL6A6 COL6A3 COL6A2 COL6A1
5 costamere GO:0043034 9.46 DMD DAG1
6 dystrophin-associated glycoprotein complex GO:0016010 9.43 DMD DAG1
7 collagen trimer GO:0005581 9.43 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1 COL12A1
8 collagen type VI trimer GO:0005589 9.26 COL6A3 COL6A1
9 sarcolemma GO:0042383 9.23 LAMA2 FKRP DYSF DMD DAG1 COL6A3

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 9.63 LAMA2 ITGA7 DAG1 COL6A3 COL6A2 COL6A1
2 cell adhesion GO:0007155 9.56 LAMA2 ITGA7 COL6A6 COL6A5 COL6A3 COL6A2
3 muscle cell cellular homeostasis GO:0046716 9.46 DMD CAPN3
4 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.43 PPIF LMNA
5 endodermal cell differentiation GO:0035987 9.43 ITGA7 COL6A1 COL12A1
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.4 SELENON DMD
7 response to denervation involved in regulation of muscle adaptation GO:0014894 9.37 DMD DAG1
8 Schwann cell differentiation GO:0014037 9.32 LAMA2 DAG1
9 muscle organ development GO:0007517 9.1 LMNA LAMA2 ITGA7 DMD COL6A3 CAPN3

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 9.33 DMD DAG1 CAPN3
2 vinculin binding GO:0017166 9.26 DMD DAG1
3 dystroglycan binding GO:0002162 9.13 FKRP DMD DAG1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.1 COL6A6 COL6A5 COL6A3 COL6A2 COL6A1 COL12A1

Sources for Bethlem Myopathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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