MCID: CLL038
MIFTS: 31

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 ullrich congenital muscular dystrophy 1. An important gene associated with Collagen Vi-Related Myopathy is COL6A2 (Collagen Type VI Alpha 2 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling 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:

41
Skeletal Muscle, Skin

Publications for Collagen Vi-Related Myopathy

Articles related to Collagen Vi-Related Myopathy:

(show all 17)
# Title Authors PMID Year
1
Collagen Type VI-Related Disorders 71
20301676 2004
2
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. 38
29894794 2018
3
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum. 38
29406609 2018
4
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies. 38
29419890 2018
5
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. 38
28831785 2017
6
Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy. 38
28000110 2017
7
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. 38
28087121 2017
8
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. 38
28984114 2017
9
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy. 38
27375477 2016
10
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. 38
25635128 2015
11
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 38
24907562 2014
12
Whole-genome sequencing and the clinician: a tale of two cities. 38
24706943 2014
13
Natural history of pulmonary function in collagen VI-related myopathies. 38
24271325 2013
14
ColVI myopathies: where do we stand, where do we go? 38
21943391 2011
15
The collagen VI-related myopathies: muscle meets its matrix. 38
21691338 2011
16
Early onset collagen VI myopathies: Genetic and clinical correlations. 38
20976770 2010
17
Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice. 38
19293339 2009

Variations for Collagen Vi-Related Myopathy

ClinVar genetic disease variations for Collagen Vi-Related Myopathy:

6 (show top 50) (show all 506)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL6A2 NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn) single nucleotide variant Pathogenic/Likely pathogenic rs387906610 21:47552017-47552017 21:46132103-46132103
2 COL6A2 NM_001849.3(COL6A2): c.115+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs770842374 21:47531507-47531507 21:46111593-46111593
3 COL6A1 NM_001848.2(COL6A1): c.1398+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs143438559 21:47414153-47414153 21:45994239-45994239
4 COL6A2 NM_001849.3(COL6A2): c.2795C> T (p.Pro932Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117725825 21:47552201-47552201 21:46132287-46132287
5 COL6A2 NM_001849.3(COL6A2): c.649G> A (p.Ala217Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs530625182 21:47532426-47532426 21:46112512-46112512
6 COL6A2 ; FTCD NM_006657.3(FTCD): c.*15C> A single nucleotide variant Conflicting interpretations of pathogenicity rs114980528 21:47556396-47556396 21:46136482-46136482
7 COL6A2 ; FTCD NM_006657.3(FTCD): c.*67C> T single nucleotide variant Conflicting interpretations of pathogenicity rs139773262 21:47556344-47556344 21:46136430-46136430
8 COL6A1 NM_001848.2(COL6A1): c.349G> A (p.Val117Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150686304 21:47404304-47404304 21:45984390-45984390
9 COL6A3 NM_004369.3(COL6A3): c.4156G> A (p.Glu1386Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs146092501 2:238280504-238280504 2:237371861-237371861
10 COL6A3 NM_004369.3(COL6A3): c.6868C> T (p.Arg2290Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116608946 2:238258801-238258801 2:237350158-237350158
11 COL6A3 NM_004369.3(COL6A3): c.2305G> A (p.Ala769Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142719863 2:238287471-238287471 2:237378828-237378828
12 COL6A1 NM_001848.2(COL6A1): c.1182+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs62215499 21:47411989-47411989 21:45992075-45992075
13 COL6A1 NM_001848.2(COL6A1): c.2635A> G (p.Ser879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140534207 21:47423475-47423475 21:46003561-46003561
14 COL6A3 NM_004369.3(COL6A3): c.7007C> T (p.Pro2336Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs202092407 2:238256472-238256472 2:237347829-237347829
15 COL6A3 NM_004369.3(COL6A3): c.7401G> A (p.Ser2467=) single nucleotide variant Conflicting interpretations of pathogenicity rs377572272 2:238253260-238253260 2:237344617-237344617
16 COL6A3 NM_004369.3(COL6A3): c.5619C> T (p.His1873=) single nucleotide variant Conflicting interpretations of pathogenicity rs146355600 2:238274560-238274560 2:237365917-237365917
17 COL6A3 NM_004369.3(COL6A3): c.3270C> T (p.Asp1090=) single nucleotide variant Conflicting interpretations of pathogenicity rs113781746 2:238283464-238283464 2:237374821-237374821
18 COL6A1 NM_001848.2(COL6A1): c.1611C> T (p.Asn537=) single nucleotide variant Conflicting interpretations of pathogenicity rs200023632 21:47418347-47418347 21:45998433-45998433
19 COL6A2 NM_001849.3(COL6A2): c.1336G> A (p.Asp446Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs535007570 21:47540432-47540432 21:46120518-46120518
20 COL6A2 NM_001849.3(COL6A2): c.1333-10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199513044 21:47540419-47540419 21:46120505-46120505
21 COL6A2 NM_001849.3(COL6A2): c.1437T> C (p.Ala479=) single nucleotide variant Conflicting interpretations of pathogenicity rs149077114 21:47541016-47541016 21:46121102-46121102
22 COL6A1 NM_001848.2(COL6A1): c.170C> A (p.Ala57Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs143502850 21:47402620-47402620 21:45982706-45982706
23 COL6A2 NM_001849.3(COL6A2): c.2517C> T (p.Asp839=) single nucleotide variant Conflicting interpretations of pathogenicity rs113002150 21:47551923-47551923 21:46132009-46132009
24 COL6A2 NM_001849.3(COL6A2): c.2751G> T (p.Val917=) single nucleotide variant Conflicting interpretations of pathogenicity rs111341650 21:47552157-47552157 21:46132243-46132243
25 COL6A2 NM_001849.3(COL6A2): c.2605G> T (p.Asp869Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141021828 21:47552011-47552011 21:46132097-46132097
26 COL6A2 NM_001849.3(COL6A2): c.988G> A (p.Asp330Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs139399166 21:47536717-47536717 21:46116803-46116803
27 COL6A2 NM_001849.3(COL6A2): c.1070C> G (p.Pro357Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199929757 21:47537804-47537804 21:46117890-46117890
28 COL6A1 NM_001848.2(COL6A1): c.2045G> A (p.Arg682Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148962954 21:47421963-47421963 21:46002049-46002049
29 COL6A1 NM_001848.2(COL6A1): c.2809A> G (p.Lys937Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs117583120 21:47423649-47423649 21:46003735-46003735
30 COL6A3 NM_004369.3(COL6A3): c.7447A> G (p.Lys2483Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139260335 2:238253214-238253214 2:237344571-237344571
31 COL6A3 NM_004369.3(COL6A3): c.8189C> A (p.Ala2730Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs138466455 2:238249370-238249370 2:237340727-237340727
32 COL6A3 NM_004369.3(COL6A3): c.8819C> T (p.Thr2940Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200626456 2:238244924-238244924 2:237336281-237336281
33 COL6A3 NM_004369.3(COL6A3): c.9351C> T (p.Asp3117=) single nucleotide variant Conflicting interpretations of pathogenicity rs148821986 2:238234345-238234345 2:237325702-237325702
34 COL6A3 NM_004369.3(COL6A3): c.2292C> T (p.Asn764=) single nucleotide variant Conflicting interpretations of pathogenicity rs116066149 2:238287484-238287484 2:237378841-237378841
35 COL6A3 NM_004369.3(COL6A3): c.4103C> T (p.Thr1368Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116505603 2:238280557-238280557 2:237371914-237371914
36 COL6A1 NM_001848.2(COL6A1): c.350T> C (p.Val117Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138899581 21:47404305-47404305 21:45984391-45984391
37 COL6A2 ; FTCD NM_006657.3(FTCD): c.*127C> A single nucleotide variant Conflicting interpretations of pathogenicity rs538433909 21:47556284-47556284 21:46136370-46136370
38 COL6A2 NM_001849.3(COL6A2): c.2250C> T (p.Arg750=) single nucleotide variant Conflicting interpretations of pathogenicity rs200096552 21:47545979-47545979 21:46126065-46126065
39 COL6A2 NM_001849.3(COL6A2): c.2523C> T (p.Ser841=) single nucleotide variant Conflicting interpretations of pathogenicity rs149697707 21:47551929-47551929 21:46132015-46132015
40 COL6A3 NM_004369.3(COL6A3): c.4503C> T (p.Asp1501=) single nucleotide variant Conflicting interpretations of pathogenicity rs115551245 2:238277603-238277603 2:237368960-237368960
41 COL6A3 NM_004369.3(COL6A3): c.5610C> A (p.Ser1870Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs113153193 2:238274569-238274569 2:237365926-237365926
42 COL6A3 NM_004369.3(COL6A3): c.7258C> T (p.Arg2420Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs150165484 2:238253403-238253403 2:237344760-237344760
43 COL6A3 NM_004369.3(COL6A3): c.7685T> C (p.Val2562Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143631346 2:238250788-238250788 2:237342145-237342145
44 COL6A3 NM_004369.3(COL6A3): c.3087C> T (p.Asp1029=) single nucleotide variant Conflicting interpretations of pathogenicity rs113066678 2:238283647-238283647 2:237375004-237375004
45 COL6A3 NM_004369.3(COL6A3): c.1688A> G (p.Asp563Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs112913396 2:238289767-238289767 2:237381124-237381124
46 COL6A2 NM_001849.3(COL6A2): c.759A> G (p.Glu253=) single nucleotide variant Conflicting interpretations of pathogenicity rs140404854 21:47533945-47533945 21:46114031-46114031
47 COL6A2 NM_001849.3(COL6A2): c.2769C> T (p.His923=) single nucleotide variant Conflicting interpretations of pathogenicity rs140419176 21:47552175-47552175 21:46132261-46132261
48 COL6A2 NM_001849.3(COL6A2): c.1970-3C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201879417 21:47545696-47545696 21:46125782-46125782
49 COL6A2 NM_001849.3(COL6A2): c.1769C> T (p.Thr590Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142709940 21:47544833-47544833 21:46124919-46124919
50 COL6A1 NM_001848.2(COL6A1): c.588+8C> G single nucleotide variant Conflicting interpretations of pathogenicity rs398123638 21:47406607-47406607 21:45986693-45986693

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 COL6A3 COL6A2 COL6A1
2
Show member pathways
12.47 COL6A3 COL6A2 COL6A1
3
Show member pathways
12.38 COL6A3 COL6A2 COL6A1
4
Show member pathways
12.22 COL6A3 COL6A2 COL6A1
5
Show member pathways
12.09 COL6A3 COL6A2 COL6A1
6
Show member pathways
11.68 COL6A3 COL6A2 COL6A1
7
Show member pathways
11.52 COL6A3 COL6A2 COL6A1
8 10.77 COL6A3 COL6A2 COL6A1
9 10.45 COL6A3 COL6A2 COL6A1
10 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 9.73 FTCD COL6A3 COL6A2 COL6A1
2 extracellular matrix GO:0031012 9.54 COL6A3 COL6A2 COL6A1
3 endoplasmic reticulum lumen GO:0005788 9.5 COL6A3 COL6A2 COL6A1
4 collagen-containing extracellular matrix GO:0062023 9.43 COL6A3 COL6A2 COL6A1
5 extracellular vesicle GO:1903561 9.4 COL6A3 COL6A2
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 9.43 COL6A3 COL6A2 COL6A1
2 extracellular matrix organization GO:0030198 9.33 COL6A3 COL6A2 COL6A1
3 protein heterotrimerization GO:0070208 8.96 COL6A2 COL6A1
4 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 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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