MCID: CLL038
MIFTS: 30

Collagen Vi-Related Myopathy

Aliases & Classifications for Collagen Vi-Related Myopathy

MalaCards integrated aliases for Collagen Vi-Related Myopathy:

Name: Collagen Vi-Related Myopathy 25 29 6
Collagen Type Vi-Related Disorders 25
Collagen Vi-Related Myopathies 25
Colvi Myopathies 25

Summaries for Collagen Vi-Related Myopathy

Genetics Home Reference : 25 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 myopathy and muscular dystrophy. 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 skeletal muscle and skin.

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
Skeletal Muscle, Skin

Publications for Collagen Vi-Related Myopathy

Articles related to Collagen Vi-Related Myopathy:

(show all 20)
# Title Authors PMID Year
1
Collagen Type VI-Related Disorders 6
20301676 2004
2
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity. 61
32448721 2020
3
Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy. 61
32389683 2020
4
Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. 61
32053901 2020
5
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum. 61
29406609 2018
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
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies. 61
29419890 2018
8
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. 61
28831785 2017
9
Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy. 61
28000110 2017
10
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. 61
28087121 2017
11
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
12
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy. 61
27375477 2016
13
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. 61
25635128 2015
14
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 61
24907562 2014
15
Whole-genome sequencing and the clinician: a tale of two cities. 61
24706943 2014
16
Natural history of pulmonary function in collagen VI-related myopathies. 61
24271325 2013
17
ColVI myopathies: where do we stand, where do we go? 61
21943391 2011
18
The collagen VI-related myopathies: muscle meets its matrix. 61
21691338 2011
19
Early onset collagen VI myopathies: Genetic and clinical correlations. 61
20976770 2010
20
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL6A2 NM_001849.3(COL6A2):c.115+2T>CSNV Pathogenic/Likely pathogenic 476449 rs770842374 21:47531507-47531507 21:46111593-46111593
2 COL6A2 NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn)SNV Pathogenic/Likely pathogenic 29644 rs387906610 21:47552017-47552017 21:46132103-46132103
3 COL6A1 NM_001848.2(COL6A1):c.350T>C (p.Val117Ala)SNV Conflicting interpretations of pathogenicity 56905 rs138899581 21:47404305-47404305 21:45984391-45984391
4 COL6A2 NM_001849.4(COL6A2):c.2795C>TSNV Conflicting interpretations of pathogenicity 17164 rs117725825 21:47552201-47552201 21:46132287-46132287
5 COL6A1 NM_001848.2(COL6A1):c.1398+10G>ASNV Conflicting interpretations of pathogenicity 93812 rs143438559 21:47414153-47414153 21:45994239-45994239
6 COL6A1 NM_001848.2(COL6A1):c.1665C>T (p.Pro555=)SNV Conflicting interpretations of pathogenicity 93825 rs369802454 21:47418864-47418864 21:45998950-45998950
7 COL6A1 NM_001848.2(COL6A1):c.2191C>T (p.Arg731Cys)SNV Conflicting interpretations of pathogenicity 93849 rs398123635 21:47422256-47422256 21:46002342-46002342
8 COL6A1 NM_001848.2(COL6A1):c.2304G>C (p.Gln768His)SNV Conflicting interpretations of pathogenicity 93851 rs376567898 21:47422494-47422494 21:46002580-46002580
9 COL6A1 NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met)SNV Conflicting interpretations of pathogenicity 93863 rs150432347 21:47423482-47423482 21:46003568-46003568
10 COL6A1 NM_001848.2(COL6A1):c.588+8C>GSNV Conflicting interpretations of pathogenicity 93882 rs398123638 21:47406607-47406607 21:45986693-45986693
11 COL6A2 NM_001849.4(COL6A2):c.1970-3C>ASNV Conflicting interpretations of pathogenicity 93927 rs201879417 21:47545696-47545696 21:46125782-46125782
12 COL6A2 NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met)SNV Conflicting interpretations of pathogenicity 93920 rs142709940 21:47544833-47544833 21:46124919-46124919
13 COL6A2 NM_001849.3(COL6A2):c.2769C>T (p.His923=)SNV Conflicting interpretations of pathogenicity 93947 rs140419176 21:47552175-47552175 21:46132261-46132261
14 COL6A3 NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly)SNV Conflicting interpretations of pathogenicity 94910 rs112913396 2:238289767-238289767 2:237381124-237381124
15 COL6A2 NM_001849.3(COL6A2):c.759A>G (p.Glu253=)SNV Conflicting interpretations of pathogenicity 93960 rs140404854 21:47533945-47533945 21:46114031-46114031
16 COL6A3 NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=)SNV Conflicting interpretations of pathogenicity 94919 rs113066678 2:238283647-238283647 2:237375004-237375004
17 COL6A3 NM_004369.3(COL6A3):c.4399A>G (p.Asn1467Asp)SNV Conflicting interpretations of pathogenicity 94934 rs138049094 2:238277707-238277707 2:237369064-237369064
18 COL6A3 NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=)SNV Conflicting interpretations of pathogenicity 94935 rs115551245 2:238277603-238277603 2:237368960-237368960
19 COL6A3 NM_004369.3(COL6A3):c.5610C>A (p.Ser1870Arg)SNV Conflicting interpretations of pathogenicity 94947 rs113153193 2:238274569-238274569 2:237365926-237365926
20 COL6A3 NM_004369.3(COL6A3):c.7258C>T (p.Arg2420Trp)SNV Conflicting interpretations of pathogenicity 94983 rs150165484 2:238253403-238253403 2:237344760-237344760
21 COL6A3 NM_004369.3(COL6A3):c.7685T>C (p.Val2562Ala)SNV Conflicting interpretations of pathogenicity 94994 rs143631346 2:238250788-238250788 2:237342145-237342145
22 COL6A3 NM_004369.3(COL6A3):c.862G>A (p.Asp288Asn)SNV Conflicting interpretations of pathogenicity 95007 rs115729513 2:238296675-238296675 2:237388032-237388032
23 COL6A2 NM_001849.3(COL6A2):c.1606G>A (p.Glu536Lys)SNV Conflicting interpretations of pathogenicity 476454 rs143338050 21:47542443-47542443 21:46122529-46122529
24 COL6A2 NM_001849.3(COL6A2):c.2697G>A (p.Thr899=)SNV Conflicting interpretations of pathogenicity 476472 rs11554669 21:47552103-47552103 21:46132189-46132189
25 COL6A2 NM_001849.3(COL6A2):c.2879C>T (p.Ser960Leu)SNV Conflicting interpretations of pathogenicity 497520 rs750097119 21:47552285-47552285 21:46132371-46132371
26 COL6A3 NM_004369.3(COL6A3):c.9198C>T (p.Val3066=)SNV Conflicting interpretations of pathogenicity 497592 rs765101399 2:238243300-238243300 2:237334657-237334657
27 COL6A1 NM_001848.2(COL6A1):c.631C>T (p.Arg211Cys)SNV Conflicting interpretations of pathogenicity 429802 rs375217284 21:47406900-47406900 21:45986986-45986986
28 COL6A3 NM_004369.3(COL6A3):c.5393G>A (p.Arg1798His)SNV Conflicting interpretations of pathogenicity 452297 rs371441617 2:238275437-238275437 2:237366794-237366794
29 COL6A3 NM_004369.3(COL6A3):c.285G>A (p.Thr95=)SNV Conflicting interpretations of pathogenicity 500013 rs373435541 2:238303654-238303654 2:237395011-237395011
30 COL6A1 NM_001848.2(COL6A1):c.2752G>A (p.Asp918Asn)SNV Conflicting interpretations of pathogenicity 500308 rs750512162 21:47423592-47423592 21:46003678-46003678
31 COL6A3 NM_004369.3(COL6A3):c.839G>T (p.Arg280Leu)SNV Conflicting interpretations of pathogenicity 501799 rs370246962 2:238296698-238296698 2:237388055-237388055
32 COL6A3 NM_004369.3(COL6A3):c.9217A>G (p.Ser3073Gly)SNV Conflicting interpretations of pathogenicity 430329 rs199680718 2:238243281-238243281 2:237334638-237334638
33 COL6A1 NM_001848.2(COL6A1):c.1119+13C>TSNV Conflicting interpretations of pathogenicity 506967 rs199655304 21:47410968-47410968 21:45991054-45991054
34 COL6A3 NM_004369.3(COL6A3):c.2845G>A (p.Ala949Thr)SNV Conflicting interpretations of pathogenicity 569748 rs374960915 2:238285640-238285640 2:237376997-237376997
35 COL6A3 NM_004369.3(COL6A3):c.6263C>T (p.Pro2088Leu)SNV Conflicting interpretations of pathogenicity 578278 rs113896755 2:238268750-238268750 2:237360107-237360107
36 COL6A3 NM_004369.3(COL6A3):c.2195C>T (p.Thr732Met)SNV Conflicting interpretations of pathogenicity 573112 rs370719148 2:238287581-238287581 2:237378938-237378938
37 COL6A2 NM_001849.3(COL6A2):c.2742C>T (p.Phe914=)SNV Conflicting interpretations of pathogenicity 597688 rs747734639 21:47552148-47552148 21:46132234-46132234
38 COL6A3 NM_004369.3(COL6A3):c.6224C>T (p.Pro2075Leu)SNV Conflicting interpretations of pathogenicity 661996 2:238268789-238268789 2:237360146-237360146
39 COL6A3 NM_004369.3(COL6A3):c.5419G>A (p.Glu1807Lys)SNV Conflicting interpretations of pathogenicity 656188 2:238275411-238275411 2:237366768-237366768
40 COL6A1 NM_001848.2(COL6A1):c.334G>A (p.Ala112Thr)SNV Conflicting interpretations of pathogenicity 647619 21:47404289-47404289 21:45984375-45984375
41 COL6A1 NM_001848.3(COL6A1):c.594G>A (p.Pro198=)SNV Conflicting interpretations of pathogenicity 705184 21:47406863-47406863 21:45986949-45986949
42 COL6A3 NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=)SNV Conflicting interpretations of pathogenicity 729831 2:238253002-238253002 2:237344359-237344359
43 COL6A3 NM_004369.4(COL6A3):c.2643C>T (p.Ser881=)SNV Conflicting interpretations of pathogenicity 729785 2:238285842-238285842 2:237377199-237377199
44 COL6A3 NM_004369.4(COL6A3):c.6931-6T>CSNV Conflicting interpretations of pathogenicity 771646 2:238257033-238257033 2:237348390-237348390
45 COL6A3 NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val)SNV Conflicting interpretations of pathogenicity 863929 2:238277511-238277511 2:237368868-237368868
46 COL6A3 NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu)SNV Conflicting interpretations of pathogenicity 864284 2:238287456-238287456 2:237378813-237378813
47 COL6A1 NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)SNV Conflicting interpretations of pathogenicity 840759 21:47419113-47419113 21:45999199-45999199
48 COL6A1 NM_001848.3(COL6A1):c.2951G>A (p.Arg984His)SNV Conflicting interpretations of pathogenicity 835863 21:47423791-47423791 21:46003877-46003877
49 COL6A2 NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val)SNV Conflicting interpretations of pathogenicity 838220 21:47544566-47544566 21:46124652-46124652
50 COL6A2 NM_001849.4(COL6A2):c.2704C>A (p.His902Asn)SNV Conflicting interpretations of pathogenicity 858172 21:47552110-47552110 21:46132196-46132196

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
12.22 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 9.33 COL6A3 COL6A2 COL6A1
2 extracellular matrix organization GO:0030198 9.13 COL6A3 COL6A2 COL6A1
3 growth plate cartilage chondrocyte morphogenesis GO:0003429 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
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9 Cosmic
10 dbSNP
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17 EFO
18 ExPASy
19 FMA
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30 HMDB
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43 MeSH
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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