MCID: CLL038
MIFTS: 24

Collagen Vi-Related Myopathy

Aliases & Classifications for Collagen Vi-Related Myopathy

MalaCards integrated aliases for Collagen Vi-Related Myopathy:

Name: Collagen Vi-Related Myopathy 26 30 6
Collagen Type Vi-Related Disorders 26
Collagen Vi-Related Myopathies 26
Colvi Myopathies 26

Summaries for Collagen Vi-Related Myopathy

Genetics Home Reference : 26 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.

MalaCards based summary : Collagen Vi-Related Myopathy, also known as collagen type vi-related disorders, is related to myopathy and muscle disorders. An important gene associated with Collagen Vi-Related Myopathy is COL6A1 (Collagen Type VI Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling 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 in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 MR in Patients With Collagen VI Related Myopathies Recruiting NCT03693898 Not Applicable

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 30 COL6A1

Anatomical Context for Collagen Vi-Related Myopathy

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

42
Skin, Skeletal Muscle

Publications for Collagen Vi-Related Myopathy

Articles related to Collagen Vi-Related Myopathy:

# Title Authors Year
1
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum. ( 29406609 )
2018
2
Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy. ( 28000110 )
2017
3
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. ( 28087121 )
2017
4
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. ( 28831785 )
2017

Variations for Collagen Vi-Related Myopathy

ClinVar genetic disease variations for Collagen Vi-Related Myopathy:

6 (show top 50) (show all 998)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL6A2 NM_001849.3(COL6A2): c.2795C> T (p.Pro932Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117725825 GRCh37 Chromosome 21, 47552201: 47552201
2 COL6A2 NM_001849.3(COL6A2): c.2795C> T (p.Pro932Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117725825 GRCh38 Chromosome 21, 46132287: 46132287
3 COL6A1 NM_001848.2(COL6A1): c.350T> C (p.Val117Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138899581 GRCh37 Chromosome 21, 47404305: 47404305
4 COL6A1 NM_001848.2(COL6A1): c.350T> C (p.Val117Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138899581 GRCh38 Chromosome 21, 45984391: 45984391
5 COL6A1 NM_001848.2(COL6A1): c.-5C> G single nucleotide variant Benign rs7671 GRCh37 Chromosome 21, 47401760: 47401760
6 COL6A1 NM_001848.2(COL6A1): c.-5C> G single nucleotide variant Benign rs7671 GRCh38 Chromosome 21, 45981846: 45981846
7 COL6A1 NM_001848.2(COL6A1): c.1056C> T (p.Asp352=) single nucleotide variant Benign/Likely benign rs116343553 GRCh37 Chromosome 21, 47410740: 47410740
8 COL6A1 NM_001848.2(COL6A1): c.1056C> T (p.Asp352=) single nucleotide variant Benign/Likely benign rs116343553 GRCh38 Chromosome 21, 45990826: 45990826
9 COL6A1 NM_001848.2(COL6A1): c.105C> G (p.Pro35=) single nucleotide variant Likely benign rs145579577 GRCh37 Chromosome 21, 47402555: 47402555
10 COL6A1 NM_001848.2(COL6A1): c.105C> G (p.Pro35=) single nucleotide variant Likely benign rs145579577 GRCh38 Chromosome 21, 45982641: 45982641
11 COL6A1 NM_001848.2(COL6A1): c.1095T> C (p.Gly365=) single nucleotide variant Benign rs1980982 GRCh37 Chromosome 21, 47410931: 47410931
12 COL6A1 NM_001848.2(COL6A1): c.1095T> C (p.Gly365=) single nucleotide variant Benign rs1980982 GRCh38 Chromosome 21, 45991017: 45991017
13 COL6A1 NM_001848.2(COL6A1): c.1120-12G> A single nucleotide variant Benign/Likely benign rs115107397 GRCh37 Chromosome 21, 47411912: 47411912
14 COL6A1 NM_001848.2(COL6A1): c.1120-12G> A single nucleotide variant Benign/Likely benign rs115107397 GRCh38 Chromosome 21, 45991998: 45991998
15 COL6A1 NM_001848.2(COL6A1): c.1273-8C> T single nucleotide variant Benign rs7280215 GRCh37 Chromosome 21, 47412654: 47412654
16 COL6A1 NM_001848.2(COL6A1): c.1273-8C> T single nucleotide variant Benign rs7280215 GRCh38 Chromosome 21, 45992740: 45992740
17 COL6A1 NM_001848.2(COL6A1): c.1314G> A (p.Thr438=) single nucleotide variant Benign rs7279254 GRCh37 Chromosome 21, 47412703: 47412703
18 COL6A1 NM_001848.2(COL6A1): c.1314G> A (p.Thr438=) single nucleotide variant Benign rs7279254 GRCh38 Chromosome 21, 45992789: 45992789
19 COL6A1 NM_001848.2(COL6A1): c.1316G> A (p.Arg439Gln) single nucleotide variant Benign/Likely benign rs35059000 GRCh37 Chromosome 21, 47412705: 47412705
20 COL6A1 NM_001848.2(COL6A1): c.1316G> A (p.Arg439Gln) single nucleotide variant Benign/Likely benign rs35059000 GRCh38 Chromosome 21, 45992791: 45992791
21 COL6A1 NM_001848.2(COL6A1): c.1398+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs143438559 GRCh37 Chromosome 21, 47414153: 47414153
22 COL6A1 NM_001848.2(COL6A1): c.1398+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs143438559 GRCh38 Chromosome 21, 45994239: 45994239
23 COL6A1 NM_001848.2(COL6A1): c.1443G> A (p.Glu481=) single nucleotide variant Benign/Likely benign rs80244281 GRCh37 Chromosome 21, 47417379: 47417379
24 COL6A1 NM_001848.2(COL6A1): c.1443G> A (p.Glu481=) single nucleotide variant Benign/Likely benign rs80244281 GRCh38 Chromosome 21, 45997465: 45997465
25 COL6A1 NM_001848.2(COL6A1): c.1524+15G> A single nucleotide variant Benign/Likely benign rs116000285 GRCh37 Chromosome 21, 47417691: 47417691
26 COL6A1 NM_001848.2(COL6A1): c.1524+15G> A single nucleotide variant Benign/Likely benign rs116000285 GRCh38 Chromosome 21, 45997777: 45997777
27 COL6A1 NM_001848.2(COL6A1): c.1773G> A (p.Pro591=) single nucleotide variant Benign rs74852641 GRCh37 Chromosome 21, 47419603: 47419603
28 COL6A1 NM_001848.2(COL6A1): c.1773G> A (p.Pro591=) single nucleotide variant Benign rs74852641 GRCh38 Chromosome 21, 45999689: 45999689
29 COL6A1 NM_001848.2(COL6A1): c.1814-6C> G single nucleotide variant Benign/Likely benign rs182804464 GRCh37 Chromosome 21, 47420667: 47420667
30 COL6A1 NM_001848.2(COL6A1): c.1814-6C> G single nucleotide variant Benign/Likely benign rs182804464 GRCh38 Chromosome 21, 46000753: 46000753
31 COL6A1 NM_001848.2(COL6A1): c.1823-8G> A single nucleotide variant Benign/Likely benign rs184666690 GRCh37 Chromosome 21, 47421159: 47421159
32 COL6A1 NM_001848.2(COL6A1): c.1823-8G> A single nucleotide variant Benign/Likely benign rs184666690 GRCh38 Chromosome 21, 46001245: 46001245
33 COL6A1 NM_001848.2(COL6A1): c.1956+15C> T single nucleotide variant Benign rs11701124 GRCh37 Chromosome 21, 47421315: 47421315
34 COL6A1 NM_001848.2(COL6A1): c.1956+15C> T single nucleotide variant Benign rs11701124 GRCh38 Chromosome 21, 46001401: 46001401
35 COL6A1 NM_001848.2(COL6A1): c.1957-11C> T single nucleotide variant Benign rs8132521 GRCh37 Chromosome 21, 47421864: 47421864
36 COL6A1 NM_001848.2(COL6A1): c.1957-11C> T single nucleotide variant Benign rs8132521 GRCh38 Chromosome 21, 46001950: 46001950
37 COL6A1 NM_001848.2(COL6A1): c.1957-5C> T single nucleotide variant Benign/Likely benign rs78224483 GRCh37 Chromosome 21, 47421870: 47421870
38 COL6A1 NM_001848.2(COL6A1): c.1957-5C> T single nucleotide variant Benign/Likely benign rs78224483 GRCh38 Chromosome 21, 46001956: 46001956
39 COL6A1 NM_001848.2(COL6A1): c.2042T> C (p.Ile681Thr) single nucleotide variant Benign/Likely benign rs138884734 GRCh37 Chromosome 21, 47421960: 47421960
40 COL6A1 NM_001848.2(COL6A1): c.2042T> C (p.Ile681Thr) single nucleotide variant Benign/Likely benign rs138884734 GRCh38 Chromosome 21, 46002046: 46002046
41 COL6A1 NM_001848.2(COL6A1): c.2061C> A (p.Leu687=) single nucleotide variant Benign/Likely benign rs8132678 GRCh37 Chromosome 21, 47421979: 47421979
42 COL6A1 NM_001848.2(COL6A1): c.2061C> A (p.Leu687=) single nucleotide variant Benign/Likely benign rs8132678 GRCh38 Chromosome 21, 46002065: 46002065
43 COL6A1 NM_001848.2(COL6A1): c.2067-10T> C single nucleotide variant Benign/Likely benign rs200727020 GRCh37 Chromosome 21, 47422122: 47422122
44 COL6A1 NM_001848.2(COL6A1): c.2067-10T> C single nucleotide variant Benign/Likely benign rs200727020 GRCh38 Chromosome 21, 46002208: 46002208
45 COL6A1 NM_001848.2(COL6A1): c.2130G> A (p.Thr710=) single nucleotide variant Benign/Likely benign rs147219060 GRCh37 Chromosome 21, 47422195: 47422195
46 COL6A1 NM_001848.2(COL6A1): c.2130G> A (p.Thr710=) single nucleotide variant Benign/Likely benign rs147219060 GRCh38 Chromosome 21, 46002281: 46002281
47 COL6A1 NM_001848.2(COL6A1): c.2191C> T (p.Arg731Cys) single nucleotide variant Uncertain significance rs398123635 GRCh37 Chromosome 21, 47422256: 47422256
48 COL6A1 NM_001848.2(COL6A1): c.2191C> T (p.Arg731Cys) single nucleotide variant Uncertain significance rs398123635 GRCh38 Chromosome 21, 46002342: 46002342
49 COL6A1 NM_001848.2(COL6A1): c.2348G> A (p.Arg783Gln) single nucleotide variant Likely benign rs200261890 GRCh37 Chromosome 21, 47422538: 47422538
50 COL6A1 NM_001848.2(COL6A1): c.2348G> A (p.Arg783Gln) single nucleotide variant Likely benign rs200261890 GRCh38 Chromosome 21, 46002624: 46002624

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 COL6A1 COL6A2 COL6A3
2
Show member pathways
12.47 COL6A1 COL6A2 COL6A3
3
Show member pathways
12.38 COL6A1 COL6A2 COL6A3
4
Show member pathways
12.22 COL6A1 COL6A2 COL6A3
5
Show member pathways
12.09 COL6A1 COL6A2 COL6A3
6
Show member pathways
11.68 COL6A1 COL6A2 COL6A3
7
Show member pathways
11.52 COL6A1 COL6A2 COL6A3
8 10.77 COL6A1 COL6A2 COL6A3
9 10.45 COL6A1 COL6A2 COL6A3
10 10.37 COL6A1 COL6A2 COL6A3

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 9.73 COL6A1 COL6A2 COL6A3 FTCD
2 extracellular matrix GO:0031012 9.54 COL6A1 COL6A2 COL6A3
3 endoplasmic reticulum lumen GO:0005788 9.5 COL6A1 COL6A2 COL6A3
4 collagen-containing extracellular matrix GO:0062023 9.43 COL6A1 COL6A2 COL6A3
5 extracellular vesicle GO:1903561 9.4 COL6A2 COL6A3
6 sarcolemma GO:0042383 9.33 COL6A1 COL6A2 COL6A3
7 collagen trimer GO:0005581 9.13 COL6A1 COL6A2 COL6A3
8 collagen type VI trimer GO:0005589 8.62 COL6A1 COL6A3

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 9.43 COL6A1 COL6A2 COL6A3
2 extracellular matrix organization GO:0030198 9.33 COL6A1 COL6A2 COL6A3
3 protein heterotrimerization GO:0070208 8.96 COL6A1 COL6A2
4 growth plate cartilage chondrocyte morphogenesis GO:0003429 8.8 COL6A1 COL6A2 COL6A3

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

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

Sources for Collagen Vi-Related Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....