MCID: CLL038
MIFTS: 15

Collagen Vi-Related Myopathy

Aliases & Classifications for Collagen Vi-Related Myopathy

MalaCards integrated aliases for Collagen Vi-Related Myopathy:

Name: Collagen Vi-Related Myopathy 24 28
Collagen Type Vi-Related Disorders 24
Collagen Vi-Related Myopathies 24
Colvi Myopathies 24

Summaries for Collagen Vi-Related Myopathy

Genetics Home Reference : 24 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 collagen type vi-related disorders and collagen vi related muscular dystrophy. An important gene associated with Collagen Vi-Related Myopathy is COL6A1 (Collagen Type VI Alpha 1 Chain). Affiliated tissues include skin and skeletal muscle.

Related Diseases for Collagen Vi-Related Myopathy

Diseases related to Collagen Vi-Related Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 collagen type vi-related disorders 12.5
2 collagen vi related muscular dystrophy 11.2
3 myopathy 10.5
4 muscular dystrophy 10.2
5 lama2-related muscular dystrophy 10.1
6 bethlem myopathy 1 9.9
7 ullrich congenital muscular dystrophy 1 9.9
8 muscular dystrophy, congenital, lmna-related 9.9
9 emery-dreifuss muscular dystrophy 9.9

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 28 COL6A1

Anatomical Context for Collagen Vi-Related Myopathy

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

38
Skin, Skeletal Muscle

Publications for Collagen Vi-Related Myopathy

Articles related to Collagen Vi-Related Myopathy:

(show all 12)
# 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
Results of a two-year pilot study of clinical outcome measures in collagen VI-related myopathy and LAMA2-related muscular dystrophy. ( 25307854 )
2014
7
Defective collagen VI I+6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. ( 24907562 )
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
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
12
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. ( 20576434 )
2010

Variations for Collagen Vi-Related Myopathy

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

Sources for Collagen Vi-Related Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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