MCID: CLL038
MIFTS: 31

Collagen Vi-Related Myopathy

Categories: Muscle diseases, Respiratory diseases

Aliases & Classifications for Collagen Vi-Related Myopathy

MalaCards integrated aliases for Collagen Vi-Related Myopathy:

Name: Collagen Vi-Related Myopathy 43 29 6
Collagen Type Vi-Related Disorders 43
Collagen Vi-Related Myopathies 43
Colvi Myopathies 43

Classifications:



Summaries for Collagen Vi-Related Myopathy

MedlinePlus Genetics : 43 Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. Researchers have described several forms of collagen VI-related myopathy, which range in severity: Bethlem myopathy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe.People with Bethlem myopathy usually have loose joints (joint laxity) and weak muscle tone (hypotonia) in infancy, but they develop contractures during childhood, typically in their fingers, wrists, elbows, and ankles. Muscle weakness can begin at any age but often appears in childhood to early adulthood. The muscle weakness is slowly progressive, with about two-thirds of affected individuals over age 50 needing walking assistance. Older individuals may develop weakness in respiratory muscles, which can cause breathing problems. Some people with this mild form of collagen VI-related myopathy have skin abnormalities, including small bumps called follicular hyperkeratosis on the arms and legs; soft, velvety skin on the palms of the hands and soles of the feet; and abnormal wound healing that creates shallow scars.The intermediate form of collagen VI-related myopathy is characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in the ankles, elbows, knees, and spine in childhood. In some affected people, the respiratory muscles are weakened, requiring people to use a machine to help them breathe (mechanical ventilation), particularly during sleep.People with Ullrich congenital muscular dystrophy have severe muscle weakness beginning soon after birth. Some affected individuals are never able to walk and others can walk only with support. Those who can walk often lose the ability, usually in adolescence. Individuals with Ullrich congenital muscular dystrophy develop contractures in their neck, hips, and knees, which further impair movement. There may be joint laxity in the fingers, wrists, toes, ankles, and other joints. Some affected individuals need continuous mechanical ventilation to help them breathe. As in Bethlem myopathy, some people with Ullrich congenital muscular dystrophy have follicular hyperkeratosis; soft, velvety skin on the palms and soles; and abnormal wound healing.Individuals with collagen VI-related myopathy often have signs and symptoms of multiple forms of this condition, so it can be difficult to assign a specific diagnosis. The overlap in disease features, in addition to their common cause, is why these once separate conditions are now considered part of the same disease spectrum.

MalaCards based summary : Collagen Vi-Related Myopathy, also known as collagen type vi-related disorders, is related to collagen type vi-related disorders and myopathy. An important gene associated with Collagen Vi-Related Myopathy is COL6A2 (Collagen Type VI Alpha 2 Chain), and among its related pathways/superpathways are Developmental Biology and Integrin Pathway. Affiliated tissues include skin and skeletal muscle.

Related Diseases for Collagen Vi-Related Myopathy

Graphical network of the top 20 diseases related to Collagen Vi-Related Myopathy:



Diseases related to Collagen Vi-Related Myopathy

Symptoms & Phenotypes for Collagen Vi-Related Myopathy

Drugs & Therapeutics for Collagen Vi-Related Myopathy

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

Search NIH Clinical Center for Collagen Vi-Related Myopathy

Genetic Tests for Collagen Vi-Related Myopathy

Genetic tests related to Collagen Vi-Related Myopathy:

# Genetic test Affiliating Genes
1 Collagen Vi-Related Myopathy 29 COL6A1

Anatomical Context for Collagen Vi-Related Myopathy

MalaCards organs/tissues related to Collagen Vi-Related Myopathy:

40
Skin, Skeletal Muscle

Publications for Collagen Vi-Related Myopathy

Articles related to Collagen Vi-Related Myopathy:

(show all 21)
# Title Authors PMID Year
1
Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family. 61
33596003 2021
2
Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene. 61
33337382 2020
3
Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy. 61
32389683 2020
4
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity. 61
32448721 2020
5
Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. 61
32053901 2020
6
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. 61
29894794 2018
7
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum. 61
29406609 2018
8
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies. 61
29419890 2018
9
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. 61
28831785 2017
10
Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy. 61
28000110 2017
11
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. 61
28087121 2017
12
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
28984114 2017
13
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy. 61
27375477 2016
14
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. 61
25635128 2015
15
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 61
24907562 2014
16
Whole-genome sequencing and the clinician: a tale of two cities. 61
24706943 2014
17
Natural history of pulmonary function in collagen VI-related myopathies. 61
24271325 2013
18
ColVI myopathies: where do we stand, where do we go? 61
21943391 2011
19
The collagen VI-related myopathies: muscle meets its matrix. 61
21691338 2011
20
Early onset collagen VI myopathies: Genetic and clinical correlations. 61
20976770 2010
21
Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice. 61
19293339 2009

Variations for Collagen Vi-Related Myopathy

ClinVar genetic disease variations for Collagen Vi-Related Myopathy:

6 (show top 50) (show all 739)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL6A2 NM_001849.4(COL6A2):c.1970-9G>A SNV Pathogenic 265506 rs747900252 21:47545690-47545690 21:46125776-46125776
2 COL6A2 NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp) SNV Likely pathogenic 287934 rs373072443 21:47551894-47551894 21:46131980-46131980
3 COL6A2 NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn) SNV Likely pathogenic 29644 rs387906610 21:47552017-47552017 21:46132103-46132103
4 COL6A2 NM_001849.3(COL6A2):c.115+2T>C SNV Likely pathogenic 476449 rs770842374 21:47531507-47531507 21:46111593-46111593
5 COL6A2 NM_001849.4(COL6A2):c.1072G>T (p.Gly358Trp) SNV Likely pathogenic 973308 21:47537806-47537806 21:46117892-46117892
6 COL6A1 NM_001848.2(COL6A1):c.1508G>A (p.Gly503Glu) SNV Uncertain significance 542975 rs1556428597 21:47417660-47417660 21:45997746-45997746
7 COL6A2 NM_001849.3(COL6A2):c.2697G>A (p.Thr899=) SNV Uncertain significance 476472 rs11554669 21:47552103-47552103 21:46132189-46132189
8 COL6A2 NM_001849.3(COL6A2):c.3029T>G (p.Phe1010Cys) SNV Uncertain significance 502086 rs1051148162 21:47552435-47552435 21:46132521-46132521
9 COL6A3 NM_004369.4(COL6A3):c.3696G>A (p.Arg1232=) SNV Uncertain significance 899142 2:238280964-238280964 2:237372321-237372321
10 COL6A3 NM_004369.4(COL6A3):c.2643C>T (p.Ser881=) SNV Uncertain significance 729785 rs550122375 2:238285842-238285842 2:237377199-237377199
11 COL6A3 NM_004369.4(COL6A3):c.2401G>A (p.Asp801Asn) SNV Uncertain significance 899210 2:238287375-238287375 2:237378732-237378732
12 COL6A2 NM_001849.3(COL6A2):c.1013G>A (p.Arg338His) SNV Uncertain significance 340366 rs760872485 21:47537327-47537327 21:46117413-46117413
13 COL6A2 NM_001849.3(COL6A2):c.1750C>T (p.Pro584Ser) SNV Uncertain significance 282615 rs779979272 21:47544814-47544814 21:46124900-46124900
14 COL6A1 NM_001848.2(COL6A1):c.549C>T (p.Gly183=) SNV Uncertain significance 93877 rs398123636 21:47406560-47406560 21:45986646-45986646
15 COL6A1 NM_001848.3(COL6A1):c.583C>G (p.His195Asp) SNV Uncertain significance 898608 21:47406594-47406594 21:45986680-45986680
16 COL6A1 NM_001848.3(COL6A1):c.594G>A (p.Pro198=) SNV Uncertain significance 705184 rs376592866 21:47406863-47406863 21:45986949-45986949
17 COL6A1 NM_001848.2(COL6A1):c.623C>T (p.Thr208Met) SNV Uncertain significance 284064 rs372199631 21:47406892-47406892 21:45986978-45986978
18 COL6A1 NM_001848.2(COL6A1):c.1119+13C>T SNV Uncertain significance 506967 rs199655304 21:47410968-47410968 21:45991054-45991054
19 COL6A3 NM_004369.4(COL6A3):c.2938C>A (p.Pro980Thr) SNV Uncertain significance 898087 2:238285547-238285547 2:237376904-237376904
20 COL6A1 NM_001848.2(COL6A1):c.1665C>T (p.Pro555=) SNV Uncertain significance 93825 rs369802454 21:47418864-47418864 21:45998950-45998950
21 COL6A1 NM_001848.2(COL6A1):c.1710A>C (p.Ala570=) SNV Uncertain significance 597159 rs763515261 21:47419102-47419102 21:45999188-45999188
22 COL6A3 NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met) SNV Uncertain significance 898882 2:238250725-238250725 2:237342082-237342082
23 COL6A3 NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=) SNV Uncertain significance 729831 rs369335838 2:238253002-238253002 2:237344359-237344359
24 COL6A1 NM_001848.3(COL6A1):c.*447T>C SNV Uncertain significance 898921 21:47424374-47424374 21:46004460-46004460
25 COL6A3 NM_004369.3(COL6A3):c.6798C>T (p.Thr2266=) SNV Uncertain significance 285639 rs116541926 2:238259791-238259791 2:237351148-237351148
26 COL6A2 NM_001849.3(COL6A2):c.411G>A (p.Ala137=) SNV Uncertain significance 499549 rs528885146 21:47532188-47532188 21:46112274-46112274
27 COL6A3 NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val) SNV Uncertain significance 899021 2:238275410-238275410 2:237366767-237366767
28 COL6A3 NM_004369.4(COL6A3):c.4468C>T (p.Leu1490=) SNV Uncertain significance 899087 2:238277638-238277638 2:237368995-237368995
29 COL6A3 NM_004369.4(COL6A3):c.4378A>G (p.Ser1460Gly) SNV Uncertain significance 899088 2:238277728-238277728 2:237369085-237369085
30 COL6A3 NM_004369.4(COL6A3):c.4285+14G>A SNV Uncertain significance 899089 2:238280361-238280361 2:237371718-237371718
31 COL6A3 NM_004369.4(COL6A3):c.4285+13C>T SNV Uncertain significance 899090 2:238280362-238280362 2:237371719-237371719
32 COL6A2 NM_001849.3(COL6A2):c.*31C>T SNV Uncertain significance 340390 rs886057169 21:47552497-47552497 21:46132583-46132583
33 COL6A2 NM_001849.3(COL6A2):c.*121C>A SNV Uncertain significance 340400 rs886057170 21:47552587-47552587 21:46132673-46132673
34 COL6A2 NM_001849.3(COL6A2):c.332C>T (p.Pro111Leu) SNV Uncertain significance 285721 rs747184649 21:47532109-47532109 21:46112195-46112195
35 COL6A2 NM_001849.3(COL6A2):c.1734+14C>T SNV Uncertain significance 340370 rs886057167 21:47544641-47544641 21:46124727-46124727
36 COL6A2 NM_001849.3(COL6A2):c.*139G>A SNV Uncertain significance 340401 rs774514501 21:47552605-47552605 21:46132691-46132691
37 COL6A2 NM_001849.3(COL6A2):c.*147C>T SNV Uncertain significance 340402 rs560095085 21:47552613-47552613 21:46132699-46132699
38 COL6A3 NM_004369.4(COL6A3):c.6558A>G (p.Gly2186=) SNV Uncertain significance 894822 2:238266014-238266014 2:237357371-237357371
39 COL6A3 NM_004369.4(COL6A3):c.6234G>A (p.Val2078=) SNV Uncertain significance 894824 2:238268779-238268779 2:237360136-237360136
40 COL6A3 NM_004369.4(COL6A3):c.5337G>A (p.Arg1779=) SNV Uncertain significance 894890 2:238275493-238275493 2:237366850-237366850
41 COL6A3 NM_004369.4(COL6A3):c.5311G>C (p.Val1771Leu) SNV Uncertain significance 894891 2:238275519-238275519 2:237366876-237366876
42 COL6A2 NM_001849.4(COL6A2):c.1341T>C (p.Pro447=) SNV Uncertain significance 894941 21:47540437-47540437 21:46120523-46120523
43 COL6A2 NM_001849.3(COL6A2):c.1359C>T (p.Arg453=) SNV Uncertain significance 285638 rs750842859 21:47540455-47540455 21:46120541-46120541
44 COL6A3 NM_004369.4(COL6A3):c.4184G>T (p.Arg1395Leu) SNV Uncertain significance 894959 2:238280476-238280476 2:237371833-237371833
45 COL6A2 NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys) SNV Uncertain significance 895000 21:47544625-47544625 21:46124711-46124711
46 COL6A2 NM_001849.4(COL6A2):c.1743C>T (p.Pro581=) SNV Uncertain significance 895002 21:47544807-47544807 21:46124893-46124893
47 COL6A2 NM_001849.3(COL6A2):c.2417G>A (p.Cys806Tyr) SNV Uncertain significance 595435 rs749043206 21:47546146-47546146 21:46126232-46126232
48 COL6A1 NM_001848.3(COL6A1):c.759+13C>T SNV Uncertain significance 895621 21:47407446-47407446 21:45987532-45987532
49 COL6A1 NM_001848.3(COL6A1):c.826C>T (p.Leu276Phe) SNV Uncertain significance 895622 21:47409019-47409019 21:45989105-45989105
50 COL6A1 NM_001848.3(COL6A1):c.884T>A (p.Val295Asp) SNV Uncertain significance 895623 21:47409547-47409547 21:45989633-45989633

Expression for Collagen Vi-Related Myopathy

Search GEO for disease gene expression data for Collagen Vi-Related Myopathy.

Pathways for Collagen Vi-Related Myopathy

Pathways related to Collagen Vi-Related Myopathy according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 COL6A3 COL6A2 COL6A1
2
Show member pathways
12.79 COL6A3 COL6A2 COL6A1
3
Show member pathways
12.53 COL6A3 COL6A2 COL6A1
4
Show member pathways
12.44 COL6A3 COL6A2 COL6A1
5
Show member pathways
12.35 COL6A3 COL6A2 COL6A1
6
Show member pathways
12.23 COL6A3 COL6A2 COL6A1
7
Show member pathways
12.09 COL6A3 COL6A2 COL6A1
8
Show member pathways
11.52 COL6A3 COL6A2 COL6A1
9 10.77 COL6A3 COL6A2 COL6A1
10 10.45 COL6A3 COL6A2 COL6A1
11 10.37 COL6A3 COL6A2 COL6A1

GO Terms for Collagen Vi-Related Myopathy

Cellular components related to Collagen Vi-Related Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.71 FTCD COL6A3 COL6A2 COL6A1
2 collagen-containing extracellular matrix GO:0062023 9.54 COL6A3 COL6A2 COL6A1
3 endoplasmic reticulum lumen GO:0005788 9.5 COL6A3 COL6A2 COL6A1
4 extracellular vesicle GO:1903561 9.43 COL6A3 COL6A2
5 extracellular matrix GO:0031012 9.43 COL6A3 COL6A2 COL6A1
6 sarcolemma GO:0042383 9.33 COL6A3 COL6A2 COL6A1
7 collagen trimer GO:0005581 9.13 COL6A3 COL6A2 COL6A1
8 collagen type VI trimer GO:0005589 8.62 COL6A3 COL6A1

Biological processes related to Collagen Vi-Related Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.13 COL6A3 COL6A2 COL6A1
2 extracellular matrix organization GO:0030198 8.8 COL6A3 COL6A2 COL6A1

Molecular functions related to Collagen Vi-Related Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 8.96 COL6A2 COL6A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL6A3 COL6A2 COL6A1

Sources for Collagen Vi-Related Myopathy

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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