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

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 17)
# Title Authors PMID Year
1
Collagen Type VI-Related Disorders 6
20301676 2004
2
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. 61
29894794 2018
3
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum. 61
29406609 2018
4
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies. 61
29419890 2018
5
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. 61
28831785 2017
6
Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy. 61
28000110 2017
7
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. 61
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. 61
28984114 2017
9
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy. 61
27375477 2016
10
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. 61
25635128 2015
11
Whole-genome sequencing and the clinician: a tale of two cities. 61
24706943 2014
12
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 61
24907562 2014
13
Natural history of pulmonary function in collagen VI-related myopathies. 61
24271325 2013
14
ColVI myopathies: where do we stand, where do we go? 61
21943391 2011
15
The collagen VI-related myopathies: muscle meets its matrix. 61
21691338 2011
16
Early onset collagen VI myopathies: Genetic and clinical correlations. 61
20976770 2010
17
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.2611G>A (p.Asp871Asn)SNV Pathogenic/Likely pathogenic 29644 rs387906610 21:47552017-47552017 21:46132103-46132103
2 COL6A2 NM_001849.3(COL6A2):c.115+2T>CSNV Pathogenic/Likely pathogenic 476449 rs770842374 21:47531507-47531507 21:46111593-46111593
3 COL6A2 NM_001849.3(COL6A2):c.649G>A (p.Ala217Thr)SNV Conflicting interpretations of pathogenicity 340363 rs530625182 21:47532426-47532426 21:46112512-46112512
4 COL6A2 NM_001849.3(COL6A2):c.1599C>T (p.Arg533=)SNV Conflicting interpretations of pathogenicity 340367 rs373635709 21:47542436-47542436 21:46122522-46122522
5 COL6A2 , FTCD NM_006657.3(FTCD):c.*127C>ASNV Conflicting interpretations of pathogenicity 340405 rs538433909 21:47556284-47556284 21:46136370-46136370
6 COL6A1 NM_001848.2(COL6A1):c.2958G>C (p.Leu986=)SNV Conflicting interpretations of pathogenicity 340329 rs886057157 21:47423798-47423798 21:46003884-46003884
7 COL6A2 NM_001849.3(COL6A2):c.2250C>T (p.Arg750=)SNV Conflicting interpretations of pathogenicity 340373 rs200096552 21:47545979-47545979 21:46126065-46126065
8 COL6A2 NM_001849.3(COL6A2):c.2523C>T (p.Ser841=)SNV Conflicting interpretations of pathogenicity 340379 rs149697707 21:47551929-47551929 21:46132015-46132015
9 COL6A2 NM_001849.3(COL6A2):c.2170C>T (p.Arg724Cys)SNV Conflicting interpretations of pathogenicity 286822 rs150098077 21:47545899-47545899 21:46125985-46125985
10 COL6A1 NM_001848.2(COL6A1):c.3029A>G (p.Gln1010Arg)SNV Conflicting interpretations of pathogenicity 286824 rs141605607 21:47423869-47423869 21:46003955-46003955
11 COL6A1 NM_001848.2(COL6A1):c.1349C>T (p.Pro450Leu)SNV Conflicting interpretations of pathogenicity 287756 rs759834554 21:47414094-47414094 21:45994180-45994180
12 COL6A2 NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp)SNV Conflicting interpretations of pathogenicity 287934 rs373072443 21:47551894-47551894 21:46131980-46131980
13 COL6A2 NM_001849.3(COL6A2):c.2634G>A (p.Ala878=)SNV Conflicting interpretations of pathogenicity 288081 rs143749884 21:47552040-47552040 21:46132126-46132126
14 COL6A1 NM_001848.2(COL6A1):c.931-5C>TSNV Conflicting interpretations of pathogenicity 288115 rs371841573 21:47410167-47410167 21:45990253-45990253
15 COL6A2 NM_001849.3(COL6A2):c.2707G>A (p.Glu903Lys)SNV Conflicting interpretations of pathogenicity 288305 rs373611722 21:47552113-47552113 21:46132199-46132199
16 COL6A3 NM_004369.3(COL6A3):c.8193A>C (p.Pro2731=)SNV Conflicting interpretations of pathogenicity 288516 rs140441798 2:238249366-238249366 2:237340723-237340723
17 COL6A3 NM_004369.3(COL6A3):c.2756C>T (p.Ala919Val)SNV Conflicting interpretations of pathogenicity 288629 rs115327470 2:238285729-238285729 2:237377086-237377086
18 COL6A3 NM_004369.3(COL6A3):c.2231C>T (p.Pro744Leu)SNV Conflicting interpretations of pathogenicity 288643 rs199504304 2:238287545-238287545 2:237378902-237378902
19 COL6A1 NM_001848.2(COL6A1):c.2355C>A (p.Gly785=)SNV Conflicting interpretations of pathogenicity 289117 rs149910296 21:47422545-47422545 21:46002631-46002631
20 COL6A3 NM_004369.3(COL6A3):c.2529C>T (p.Asp843=)SNV Conflicting interpretations of pathogenicity 289338 rs556079869 2:238285956-238285956 2:237377313-237377313
21 COL6A3 NM_004369.3(COL6A3):c.9147C>T (p.Leu3049=)SNV Conflicting interpretations of pathogenicity 289357 rs183247300 2:238243351-238243351 2:237334708-237334708
22 COL6A3 NM_004369.3(COL6A3):c.786C>T (p.Leu262=)SNV Conflicting interpretations of pathogenicity 290161 rs111481402 2:238296751-238296751 2:237388108-237388108
23 COL6A3 NM_004369.3(COL6A3):c.5470C>T (p.Leu1824Phe)SNV Conflicting interpretations of pathogenicity 290190 rs114131542 2:238275360-238275360 2:237366717-237366717
24 COL6A1 NM_001848.2(COL6A1):c.2793G>A (p.Ser931=)SNV Conflicting interpretations of pathogenicity 290286 rs148561616 21:47423633-47423633 21:46003719-46003719
25 COL6A3 NM_004369.3(COL6A3):c.3371C>T (p.Ala1124Val)SNV Conflicting interpretations of pathogenicity 290337 rs374447921 2:238283363-238283363 2:237374720-237374720
26 COL6A3 NM_004369.3(COL6A3):c.1208C>T (p.Pro403Leu)SNV Conflicting interpretations of pathogenicity 288401 rs547651808 2:238296329-238296329 2:237387686-237387686
27 COL6A1 NM_001848.2(COL6A1):c.2857G>A (p.Ala953Thr)SNV Conflicting interpretations of pathogenicity 290671 rs150378645 21:47423697-47423697 21:46003783-46003783
28 COL6A2 NM_001849.3(COL6A2):c.2016G>A (p.Glu672=)SNV Conflicting interpretations of pathogenicity 290937 rs146323303 21:47545745-47545745 21:46125831-46125831
29 COL6A3 NM_004369.3(COL6A3):c.1131C>T (p.Phe377=)SNV Conflicting interpretations of pathogenicity 291211 rs189772397 2:238296406-238296406 2:237387763-237387763
30 COL6A3 NM_004369.3(COL6A3):c.7755T>C (p.His2585=)SNV Conflicting interpretations of pathogenicity 335104 rs145581705 2:238250718-238250718 2:237342075-237342075
31 COL6A3 NM_004369.3(COL6A3):c.7308G>A (p.Glu2436=)SNV Conflicting interpretations of pathogenicity 335107 rs750552221 2:238253353-238253353 2:237344710-237344710
32 COL6A3 NM_004369.3(COL6A3):c.5252C>T (p.Thr1751Met)SNV Conflicting interpretations of pathogenicity 335120 rs201147199 2:238275578-238275578 2:237366935-237366935
33 COL6A3 NM_004369.3(COL6A3):c.466G>T (p.Asp156Tyr)SNV Conflicting interpretations of pathogenicity 335144 rs199632952 2:238303473-238303473 2:237394830-237394830
34 COL6A3 NM_004369.3(COL6A3):c.8137A>G (p.Arg2713Gly)SNV Conflicting interpretations of pathogenicity 335101 rs772602377 2:238249422-238249422 2:237340779-237340779
35 COL6A3 NM_004369.3(COL6A3):c.7029+10C>TSNV Conflicting interpretations of pathogenicity 335109 rs376525317 2:238256440-238256440 2:237347797-237347797
36 COL6A3 NM_004369.3(COL6A3):c.6852C>T (p.Ile2284=)SNV Conflicting interpretations of pathogenicity 335112 rs374952003 2:238258817-238258817 2:237350174-237350174
37 COL6A3 NM_004369.3(COL6A3):c.3751G>A (p.Val1251Ile)SNV Conflicting interpretations of pathogenicity 335126 rs199646208 2:238280909-238280909 2:237372266-237372266
38 COL6A3 NM_004369.3(COL6A3):c.3732C>T (p.Ala1244=)SNV Conflicting interpretations of pathogenicity 335127 rs193265138 2:238280928-238280928 2:237372285-237372285
39 COL6A3 NM_004369.3(COL6A3):c.6174C>T (p.Asp2058=)SNV Conflicting interpretations of pathogenicity 335114 rs777351827 2:238269800-238269800 2:237361157-237361157
40 COL6A3 NM_004369.3(COL6A3):c.5646G>T (p.Ser1882=)SNV Conflicting interpretations of pathogenicity 335119 rs886055807 2:238274533-238274533 2:237365890-237365890
41 COL6A3 NM_004369.3(COL6A3):c.3190C>T (p.Arg1064Trp)SNV Conflicting interpretations of pathogenicity 335132 rs369810455 2:238283544-238283544 2:237374901-237374901
42 COL6A3 NM_004369.3(COL6A3):c.1562C>T (p.Ser521Leu)SNV Conflicting interpretations of pathogenicity 335140 rs115881121 2:238289893-238289893 2:237381250-237381250
43 COL6A3 NM_004369.3(COL6A3):c.1557C>T (p.Asp519=)SNV Conflicting interpretations of pathogenicity 335141 rs145586177 2:238289898-238289898 2:237381255-237381255
44 COL6A3 NM_004369.3(COL6A3):c.5179C>T (p.Arg1727Trp)SNV Conflicting interpretations of pathogenicity 335121 rs143074017 2:238275651-238275651 2:237367008-237367008
45 COL6A3 NM_004369.3(COL6A3):c.414C>T (p.Ala138=)SNV Conflicting interpretations of pathogenicity 335146 rs148996231 2:238303525-238303525 2:237394882-237394882
46 COL6A1 NM_001848.2(COL6A1):c.794C>T (p.Pro265Leu)SNV Conflicting interpretations of pathogenicity 340309 rs757230924 21:47407558-47407558 21:45987644-45987644
47 COL6A1 NM_001848.2(COL6A1):c.958-10C>TSNV Conflicting interpretations of pathogenicity 340311 rs200508160 21:47410282-47410282 21:45990368-45990368
48 COL6A2 NM_001849.3(COL6A2):c.1674G>A (p.Ala558=)SNV Conflicting interpretations of pathogenicity 340368 rs144334894 21:47544567-47544567 21:46124653-46124653
49 COL6A2 NM_001849.3(COL6A2):c.2423-9C>GSNV Conflicting interpretations of pathogenicity 340376 rs368725753 21:47546408-47546408 21:46126494-46126494
50 COL6A2 , FTCD NM_206965.2(FTCD):c.1540-17_1540-16deldeletion Conflicting interpretations of pathogenicity 340413 rs747091513 21:47557003-47557004 21:46137089-46137090

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
12.52 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 9.73 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 matrix GO:0031012 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 9.33 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

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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