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.

MalaCards based summary : Collagen Vi-Related Myopathy, also known as collagen type vi-related disorders, is related to muscular dystrophy, congenital, lmna-related and myopathy. 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

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:

41
Skin, Skeletal Muscle

Publications for Collagen Vi-Related Myopathy

Articles related to Collagen Vi-Related Myopathy:

(show all 14)
# Title Authors Year
1
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum. ( 29406609 )
2018
2
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. ( 28831785 )
2017
3
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. ( 28087121 )
2016
4
Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy. ( 28000110 )
2016
5
Paternal germline mosaicism in collagen VI related myopathies. ( 25978941 )
2015
6
Defective collagen VI I+6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. ( 24907562 )
2014
7
Results of a two-year pilot study of clinical outcome measures in collagen VI-related myopathy and LAMA2-related muscular dystrophy. ( 25307854 )
2014
8
Natural history of pulmonary function in collagen VI-related myopathies. ( 24271325 )
2013
9
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 21496625 )
2011
10
Expression of the collagen VI I+5 and I+6 chains in normal human skin and in skin of patients with collagen VI-related myopathies. ( 20882040 )
2011
11
The collagen VI-related myopathies: muscle meets its matrix. ( 21691338 )
2011
12
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. ( 20302629 )
2010
13
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. ( 20576434 )
2010
14
Therapy of collagen VI-related myopathies (Bethlem and Ullrich). ( 19019314 )
2008

Variations for Collagen Vi-Related Myopathy

ClinVar genetic disease variations for Collagen Vi-Related Myopathy:

6
(show top 50) (show all 684)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL6A3 NM_004369.3(COL6A3): c.6868C> T (p.Arg2290Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116608946 GRCh38 Chromosome 2, 237350158: 237350158
2 COL6A3 NM_004369.3(COL6A3): c.6868C> T (p.Arg2290Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116608946 GRCh37 Chromosome 2, 238258801: 238258801
3 COL6A3 NM_004369.3(COL6A3): c.4912G> A (p.Ala1638Thr) single nucleotide variant Benign/Likely benign rs114322958 GRCh38 Chromosome 2, 237367275: 237367275
4 COL6A3 NM_004369.3(COL6A3): c.4912G> A (p.Ala1638Thr) single nucleotide variant Benign/Likely benign rs114322958 GRCh37 Chromosome 2, 238275918: 238275918
5 COL6A3 NM_004369.3(COL6A3): c.2305G> A (p.Ala769Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142719863 GRCh38 Chromosome 2, 237378828: 237378828
6 COL6A3 NM_004369.3(COL6A3): c.2305G> A (p.Ala769Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142719863 GRCh37 Chromosome 2, 238287471: 238287471
7 COL6A1 NM_001848.2(COL6A1): c.1182+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs62215499 GRCh38 Chromosome 21, 45992075: 45992075
8 COL6A1 NM_001848.2(COL6A1): c.1182+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs62215499 GRCh37 Chromosome 21, 47411989: 47411989
9 COL6A1 NM_001848.2(COL6A1): c.2635A> G (p.Ser879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140534207 GRCh38 Chromosome 21, 46003561: 46003561
10 COL6A1 NM_001848.2(COL6A1): c.2635A> G (p.Ser879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140534207 GRCh37 Chromosome 21, 47423475: 47423475
11 COL6A2 NM_001849.3(COL6A2): c.2558G> A (p.Arg853Gln) single nucleotide variant Benign/Likely benign rs144830948 GRCh38 Chromosome 21, 46132050: 46132050
12 COL6A2 NM_001849.3(COL6A2): c.2558G> A (p.Arg853Gln) single nucleotide variant Benign/Likely benign rs144830948 GRCh37 Chromosome 21, 47551964: 47551964
13 COL6A2 NM_001849.3(COL6A2): c.2566G> A (p.Val856Met) single nucleotide variant Uncertain significance rs368160013 GRCh38 Chromosome 21, 46132058: 46132058
14 COL6A2 NM_001849.3(COL6A2): c.2566G> A (p.Val856Met) single nucleotide variant Uncertain significance rs368160013 GRCh37 Chromosome 21, 47551972: 47551972
15 COL6A3 NM_004369.3(COL6A3): c.7007C> T (p.Pro2336Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs202092407 GRCh37 Chromosome 2, 238256472: 238256472
16 COL6A3 NM_004369.3(COL6A3): c.7007C> T (p.Pro2336Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs202092407 GRCh38 Chromosome 2, 237347829: 237347829
17 COL6A3 NM_004369.3(COL6A3): c.34G> A (p.Val12Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs137910388 GRCh37 Chromosome 2, 238305427: 238305427
18 COL6A3 NM_004369.3(COL6A3): c.34G> A (p.Val12Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs137910388 GRCh38 Chromosome 2, 237396784: 237396784
19 COL6A2 NM_001849.3(COL6A2): c.2605G> A (p.Asp869Asn) single nucleotide variant Benign/Likely benign rs141021828 GRCh37 Chromosome 21, 47552011: 47552011
20 COL6A2 NM_001849.3(COL6A2): c.2605G> A (p.Asp869Asn) single nucleotide variant Benign/Likely benign rs141021828 GRCh38 Chromosome 21, 46132097: 46132097
21 COL6A3 NM_004369.3(COL6A3): c.6751C> T (p.Arg2251Trp) single nucleotide variant Benign/Likely benign rs116690555 GRCh37 Chromosome 2, 238261167: 238261167
22 COL6A3 NM_004369.3(COL6A3): c.6751C> T (p.Arg2251Trp) single nucleotide variant Benign/Likely benign rs116690555 GRCh38 Chromosome 2, 237352524: 237352524
23 COL6A3 NM_004369.3(COL6A3): c.8735C> T (p.Pro2912Leu) single nucleotide variant Benign/Likely benign rs112928650 GRCh37 Chromosome 2, 238245008: 238245008
24 COL6A3 NM_004369.3(COL6A3): c.8735C> T (p.Pro2912Leu) single nucleotide variant Benign/Likely benign rs112928650 GRCh38 Chromosome 2, 237336365: 237336365
25 COL6A1 NM_001848.2(COL6A1): c.1611C> T (p.Asn537=) single nucleotide variant Conflicting interpretations of pathogenicity rs200023632 GRCh37 Chromosome 21, 47418347: 47418347
26 COL6A1 NM_001848.2(COL6A1): c.1611C> T (p.Asn537=) single nucleotide variant Conflicting interpretations of pathogenicity rs200023632 GRCh38 Chromosome 21, 45998433: 45998433
27 COL6A2 NM_001849.3(COL6A2): c.2220T> C (p.Asp740=) single nucleotide variant Benign/Likely benign rs61735830 GRCh37 Chromosome 21, 47545949: 47545949
28 COL6A2 NM_001849.3(COL6A2): c.2220T> C (p.Asp740=) single nucleotide variant Benign/Likely benign rs61735830 GRCh38 Chromosome 21, 46126035: 46126035
29 COL6A3 NM_004369.3(COL6A3): c.7401G> A (p.Ser2467=) single nucleotide variant Conflicting interpretations of pathogenicity rs377572272 GRCh37 Chromosome 2, 238253260: 238253260
30 COL6A3 NM_004369.3(COL6A3): c.7401G> A (p.Ser2467=) single nucleotide variant Conflicting interpretations of pathogenicity rs377572272 GRCh38 Chromosome 2, 237344617: 237344617
31 COL6A3 NM_004369.3(COL6A3): c.5619C> T (p.His1873=) single nucleotide variant Conflicting interpretations of pathogenicity rs146355600 GRCh37 Chromosome 2, 238274560: 238274560
32 COL6A3 NM_004369.3(COL6A3): c.5619C> T (p.His1873=) single nucleotide variant Conflicting interpretations of pathogenicity rs146355600 GRCh38 Chromosome 2, 237365917: 237365917
33 COL6A3 NM_004369.3(COL6A3): c.3270C> T (p.Asp1090=) single nucleotide variant Conflicting interpretations of pathogenicity rs113781746 GRCh37 Chromosome 2, 238283464: 238283464
34 COL6A3 NM_004369.3(COL6A3): c.3270C> T (p.Asp1090=) single nucleotide variant Conflicting interpretations of pathogenicity rs113781746 GRCh38 Chromosome 2, 237374821: 237374821
35 COL6A3 NM_004369.3(COL6A3): c.292A> T (p.Thr98Ser) single nucleotide variant Benign/Likely benign rs76646066 GRCh37 Chromosome 2, 238303647: 238303647
36 COL6A3 NM_004369.3(COL6A3): c.292A> T (p.Thr98Ser) single nucleotide variant Benign/Likely benign rs76646066 GRCh38 Chromosome 2, 237395004: 237395004
37 COL6A3 NM_004369.3(COL6A3): c.9128G> A (p.Arg3043His) single nucleotide variant Conflicting interpretations of pathogenicity rs552651651 GRCh38 Chromosome 2, 237334727: 237334727
38 COL6A3 NM_004369.3(COL6A3): c.9128G> A (p.Arg3043His) single nucleotide variant Conflicting interpretations of pathogenicity rs552651651 GRCh37 Chromosome 2, 238243370: 238243370
39 COL6A3 NM_004369.3(COL6A3): c.9245C> G (p.Pro3082Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs182976977 GRCh38 Chromosome 2, 237333533: 237333533
40 COL6A3 NM_004369.3(COL6A3): c.9245C> G (p.Pro3082Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs182976977 GRCh37 Chromosome 2, 238242176: 238242176
41 COL6A3 NM_004369.3(COL6A3): c.7502G> A (p.Arg2501His) single nucleotide variant Likely benign rs541928674 GRCh38 Chromosome 2, 237344516: 237344516
42 COL6A3 NM_004369.3(COL6A3): c.7502G> A (p.Arg2501His) single nucleotide variant Likely benign rs541928674 GRCh37 Chromosome 2, 238253159: 238253159
43 COL6A2 NM_001849.3(COL6A2): c.988G> A (p.Asp330Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs139399166 GRCh37 Chromosome 21, 47536717: 47536717
44 COL6A2 NM_001849.3(COL6A2): c.988G> A (p.Asp330Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs139399166 GRCh38 Chromosome 21, 46116803: 46116803
45 COL6A2 NM_001849.3(COL6A2): c.1070C> G (p.Pro357Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199929757 GRCh37 Chromosome 21, 47537804: 47537804
46 COL6A2 NM_001849.3(COL6A2): c.1070C> G (p.Pro357Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199929757 GRCh38 Chromosome 21, 46117890: 46117890
47 COL6A1 NM_001848.2(COL6A1): c.981C> T (p.Ile327=) single nucleotide variant Likely benign rs138401567 GRCh37 Chromosome 21, 47410315: 47410315
48 COL6A1 NM_001848.2(COL6A1): c.981C> T (p.Ile327=) single nucleotide variant Likely benign rs138401567 GRCh38 Chromosome 21, 45990401: 45990401
49 COL6A2 NM_001849.3(COL6A2): c.1336G> A (p.Asp446Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs535007570 GRCh37 Chromosome 21, 47540432: 47540432
50 COL6A2 NM_001849.3(COL6A2): c.1336G> A (p.Asp446Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs535007570 GRCh38 Chromosome 21, 46120518: 46120518

Expression for Collagen Vi-Related Myopathy

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

Pathways for Collagen Vi-Related Myopathy

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 COL6A1 COL6A2 COL6A3 FTCD
2 endoplasmic reticulum lumen GO:0005788 9.5 COL6A1 COL6A2 COL6A3
3 extracellular matrix GO:0031012 9.43 COL6A1 COL6A2 COL6A3
4 extracellular vesicle GO:1903561 9.37 COL6A2 COL6A3
5 sarcolemma GO:0042383 9.33 COL6A1 COL6A2 COL6A3
6 collagen trimer GO:0005581 9.13 COL6A1 COL6A2 COL6A3
7 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 collagen catabolic process GO:0030574 8.8 COL6A1 COL6A2 COL6A3

Sources for Collagen Vi-Related Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....