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


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 myosclerosis, autosomal recessive 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:

Skin, Skeletal Muscle

Publications for Collagen Vi-Related Myopathy

Articles related to Collagen Vi-Related Myopathy:

(show all 33)
# Title Authors PMID Year
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies. 61 6
29419890 2018
Early onset collagen VI myopathies: Genetic and clinical correlations. 6 61
20976770 2010
Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management. 6
28660205 2017
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 6
27447704 2017
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. 6
25535305 2015
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain. 6
25533456 2015
Diaphragmatic dysfunction in Collagen VI myopathies. 6
24314752 2014
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
24038877 2013
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. 6
21280092 2011
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. 6
20576434 2010
Autosomal recessive Bethlem myopathy. 6
19949035 2009
Autosomal recessive inheritance of classic Bethlem myopathy. 6
19884007 2009
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. 6
19309692 2009
Collagen VI-Related Dystrophies 6
20301676 2004
Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family. 61
33596003 2021
Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene. 61
33337382 2021
Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy. 61
32389683 2020
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity. 61
32448721 2020
Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. 61
32053901 2020
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum. 61
29406609 2018
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. 61
29894794 2018
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. 61
28831785 2017
Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy. 61
28000110 2017
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. 61
28087121 2017
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
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy. 61
27375477 2016
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. 61
25635128 2015
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 61
24907562 2014
Whole-genome sequencing and the clinician: a tale of two cities. 61
24706943 2014
Natural history of pulmonary function in collagen VI-related myopathies. 61
24271325 2013
ColVI myopathies: where do we stand, where do we go? 61
21943391 2011
The collagen VI-related myopathies: muscle meets its matrix. 61
21691338 2011
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 Position
1 COL6A2 NM_001849.4(COL6A2):c.1970-9G>A SNV Pathogenic 265506 rs747900252 GRCh37: 21:47545690-47545690
GRCh38: 21:46125776-46125776
2 COL6A2 NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp) SNV Likely pathogenic 287934 rs373072443 GRCh37: 21:47551894-47551894
GRCh38: 21:46131980-46131980
3 COL6A2 NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn) SNV Likely pathogenic 29644 rs387906610 GRCh37: 21:47552017-47552017
GRCh38: 21:46132103-46132103
4 COL6A2 NM_001849.3(COL6A2):c.115+2T>C SNV Likely pathogenic 476449 rs770842374 GRCh37: 21:47531507-47531507
GRCh38: 21:46111593-46111593
5 COL6A2 NM_001849.4(COL6A2):c.1072G>T (p.Gly358Trp) SNV Likely pathogenic 973308 GRCh37: 21:47537806-47537806
GRCh38: 21:46117892-46117892
6 COL6A1 NM_001848.2(COL6A1):c.1508G>A (p.Gly503Glu) SNV Uncertain significance 542975 rs1556428597 GRCh37: 21:47417660-47417660
GRCh38: 21:45997746-45997746
7 COL6A2 NM_001849.3(COL6A2):c.2697G>A (p.Thr899=) SNV Uncertain significance 476472 rs11554669 GRCh37: 21:47552103-47552103
GRCh38: 21:46132189-46132189
8 COL6A2 NM_001849.3(COL6A2):c.3029T>G (p.Phe1010Cys) SNV Uncertain significance 502086 rs1051148162 GRCh37: 21:47552435-47552435
GRCh38: 21:46132521-46132521
9 COL6A3 NM_004369.3(COL6A3):c.8270G>C (p.Arg2757Thr) SNV Uncertain significance 284967 rs746608405 GRCh37: 2:238249289-238249289
GRCh38: 2:237340646-237340646
10 COL6A2 NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn) SNV Uncertain significance 897931 GRCh37: 21:47536580-47536580
GRCh38: 21:46116666-46116666
11 COL6A3 NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val) SNV Uncertain significance 899021 GRCh37: 2:238275410-238275410
GRCh38: 2:237366767-237366767
12 COL6A3 NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met) SNV Uncertain significance 898882 GRCh37: 2:238250725-238250725
GRCh38: 2:237342082-237342082
13 COL6A3 NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=) SNV Uncertain significance 729831 rs369335838 GRCh37: 2:238253002-238253002
GRCh38: 2:237344359-237344359
14 COL6A1 NM_001848.3(COL6A1):c.*447T>C SNV Uncertain significance 898921 GRCh37: 21:47424374-47424374
GRCh38: 21:46004460-46004460
15 COL6A3 NM_004369.3(COL6A3):c.6798C>T (p.Thr2266=) SNV Uncertain significance 285639 rs116541926 GRCh37: 2:238259791-238259791
GRCh38: 2:237351148-237351148
16 COL6A2 NM_001849.3(COL6A2):c.411G>A (p.Ala137=) SNV Uncertain significance 499549 rs528885146 GRCh37: 21:47532188-47532188
GRCh38: 21:46112274-46112274
17 COL6A3 NM_004369.4(COL6A3):c.4468C>T (p.Leu1490=) SNV Uncertain significance 899087 GRCh37: 2:238277638-238277638
GRCh38: 2:237368995-237368995
18 COL6A3 NM_004369.4(COL6A3):c.4378A>G (p.Ser1460Gly) SNV Uncertain significance 899088 GRCh37: 2:238277728-238277728
GRCh38: 2:237369085-237369085
19 COL6A3 NM_004369.4(COL6A3):c.4285+14G>A SNV Uncertain significance 899089 GRCh37: 2:238280361-238280361
GRCh38: 2:237371718-237371718
20 COL6A3 NM_004369.4(COL6A3):c.4285+13C>T SNV Uncertain significance 899090 GRCh37: 2:238280362-238280362
GRCh38: 2:237371719-237371719
21 COL6A3 NM_004369.4(COL6A3):c.3696G>A (p.Arg1232=) SNV Uncertain significance 899142 GRCh37: 2:238280964-238280964
GRCh38: 2:237372321-237372321
22 COL6A3 NM_004369.4(COL6A3):c.2643C>T (p.Ser881=) SNV Uncertain significance 729785 rs550122375 GRCh37: 2:238285842-238285842
GRCh38: 2:237377199-237377199
23 COL6A3 NM_004369.4(COL6A3):c.2401G>A (p.Asp801Asn) SNV Uncertain significance 899210 GRCh37: 2:238287375-238287375
GRCh38: 2:237378732-237378732
24 COL6A3 NM_004369.3(COL6A3):c.4399A>G (p.Asn1467Asp) SNV Uncertain significance 94934 rs138049094 GRCh37: 2:238277707-238277707
GRCh38: 2:237369064-237369064
25 COL6A2 NM_001849.3(COL6A2):c.1105C>T (p.Gln369Ter) SNV Uncertain significance 632384 rs1568930865 GRCh37: 21:47537839-47537839
GRCh38: 21:46117925-46117925
26 COL6A3 NM_004369.4(COL6A3):c.6558A>G (p.Gly2186=) SNV Uncertain significance 894822 GRCh37: 2:238266014-238266014
GRCh38: 2:237357371-237357371
27 COL6A3 NM_004369.4(COL6A3):c.7447A>G SNV Uncertain significance 196977 rs139260335 GRCh37: 2:238253214-238253214
GRCh38: 2:237344571-237344571
28 COL6A3 NM_004369.3(COL6A3):c.7163-2A>G SNV Uncertain significance 632353 rs1559207854 GRCh37: 2:238253597-238253597
GRCh38: 2:237344954-237344954
29 COL6A3 NM_004369.4(COL6A3):c.6234G>A (p.Val2078=) SNV Uncertain significance 894824 GRCh37: 2:238268779-238268779
GRCh38: 2:237360136-237360136
30 COL6A3 NM_004369.4(COL6A3):c.5337G>A (p.Arg1779=) SNV Uncertain significance 894890 GRCh37: 2:238275493-238275493
GRCh38: 2:237366850-237366850
31 COL6A3 NM_004369.4(COL6A3):c.5311G>C (p.Val1771Leu) SNV Uncertain significance 894891 GRCh37: 2:238275519-238275519
GRCh38: 2:237366876-237366876
32 COL6A3 NM_004369.3(COL6A3):c.1770T>C (p.Ala590=) SNV Uncertain significance 335138 rs774234847 GRCh37: 2:238289685-238289685
GRCh38: 2:237381042-237381042
33 COL6A1 NM_001848.2(COL6A1):c.1255G>A (p.Gly419Ser) SNV Uncertain significance 520642 rs745485695 GRCh37: 21:47412295-47412295
GRCh38: 21:45992381-45992381
34 COL6A2 NM_001849.3(COL6A2):c.1770+1G>A SNV Uncertain significance 631882 rs752803039 GRCh37: 21:47544835-47544835
GRCh38: 21:46124921-46124921
35 COL6A3 NM_004369.3(COL6A3):c.*377C>T SNV Uncertain significance 335093 rs557107413 GRCh37: 2:238233040-238233040
GRCh38: 2:237324397-237324397
36 COL6A2 NM_001849.3(COL6A2):c.1911C>T (p.Phe637=) SNV Uncertain significance 340371 rs746339542 GRCh37: 21:47545473-47545473
GRCh38: 21:46125559-46125559
37 COL6A3 NM_004369.3(COL6A3):c.5655G>C (p.Val1885=) SNV Uncertain significance 335118 rs756468711 GRCh37: 2:238274524-238274524
GRCh38: 2:237365881-237365881
38 COL6A1 NM_001848.2(COL6A1):c.*633T>C SNV Uncertain significance 340347 rs886057161 GRCh37: 21:47424560-47424560
GRCh38: 21:46004646-46004646
39 COL6A1 NM_001848.2(COL6A1):c.*526C>T SNV Uncertain significance 340344 rs866939049 GRCh37: 21:47424453-47424453
GRCh38: 21:46004539-46004539
40 COL6A2 NM_001849.3(COL6A2):c.2788C>T (p.Arg930Cys) SNV Uncertain significance 340383 rs886057168 GRCh37: 21:47552194-47552194
GRCh38: 21:46132280-46132280
41 COL6A3 NM_004369.3(COL6A3):c.3901C>T (p.Arg1301Trp) SNV Uncertain significance 288398 rs150430813 GRCh37: 2:238280759-238280759
GRCh38: 2:237372116-237372116
42 COL6A1 NM_001848.2(COL6A1):c.1349C>T (p.Pro450Leu) SNV Uncertain significance 287756 rs759834554 GRCh37: 21:47414094-47414094
GRCh38: 21:45994180-45994180
43 COL6A2 NM_001849.3(COL6A2):c.2986G>A (p.Val996Met) SNV Uncertain significance 340387 rs142432514 GRCh37: 21:47552392-47552392
GRCh38: 21:46132478-46132478
44 COL6A1 NM_001848.2(COL6A1):c.*648C>T SNV Uncertain significance 340349 rs755204063 GRCh37: 21:47424575-47424575
GRCh38: 21:46004661-46004661
45 COL6A3 NM_004369.3(COL6A3):c.3235G>A (p.Glu1079Lys) SNV Uncertain significance 335131 rs762778512 GRCh37: 2:238283499-238283499
GRCh38: 2:237374856-237374856
46 COL6A1 NM_001848.2(COL6A1):c.1890C>T (p.Asn630=) SNV Uncertain significance 340325 rs886057156 GRCh37: 21:47421234-47421234
GRCh38: 21:46001320-46001320
47 COL6A1 NM_001848.2(COL6A1):c.1612-15C>G SNV Uncertain significance 340320 rs886057154 GRCh37: 21:47418796-47418796
GRCh38: 21:45998882-45998882
48 COL6A3 NM_004369.3(COL6A3):c.5778G>A (p.Thr1926=) SNV Uncertain significance 335117 rs555406717 GRCh37: 2:238274401-238274401
GRCh38: 2:237365758-237365758
49 COL6A1 NM_001848.2(COL6A1):c.1277G>A (p.Gly426Asp) SNV Uncertain significance 340316 rs886057152 GRCh37: 21:47412666-47412666
GRCh38: 21:45992752-45992752
50 COL6A1 NM_001848.2(COL6A1):c.*985C>T SNV Uncertain significance 340358 rs778917156 GRCh37: 21:47424912-47424912
GRCh38: 21:46004998-46004998

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
Show member pathways
12.88 COL6A3 COL6A2 COL6A1
Show member pathways
12.79 COL6A3 COL6A2 COL6A1
Show member pathways
12.53 COL6A3 COL6A2 COL6A1
Show member pathways
12.44 COL6A3 COL6A2 COL6A1
Show member pathways
12.35 COL6A3 COL6A2 COL6A1
Show member pathways
12.23 COL6A3 COL6A2 COL6A1
Show member pathways
12.09 COL6A3 COL6A2 COL6A1
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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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