MCID: CLL043
MIFTS: 21

Collagen Vi-Related Dystrophies

Aliases & Classifications for Collagen Vi-Related Dystrophies

MalaCards integrated aliases for Collagen Vi-Related Dystrophies:

Name: Collagen Vi-Related Dystrophies 25
Col6-Related Dystrophies 25
Col6-Rds 25

Characteristics:

GeneReviews:

25
Penetrance Parents of individuals with recessively inherited col6-rds are usually heterozygous for a col6a1, col6a2, or col6a3 pathogenic variant, but they do not manifest clinical symptoms of col6-rd, even when predicted to be haploinsufficient for the respective gene....

Summaries for Collagen Vi-Related Dystrophies

MalaCards based summary : Collagen Vi-Related Dystrophies, also known as col6-related dystrophies, is related to muscular dystrophy and muscular dystrophy, congenital, lmna-related. An important gene associated with Collagen Vi-Related Dystrophies is COL6A1 (Collagen Type VI Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Developmental Biology. Affiliated tissues include skin and endothelial.

GeneReviews: NBK1503

Related Diseases for Collagen Vi-Related Dystrophies

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 29.5 COL6A3 COL6A2 COL6A1
2 muscular dystrophy, congenital, lmna-related 29.4 COL6A3 COL6A2 COL6A1
3 ullrich congenital muscular dystrophy 1 29.4 COL6A3 COL6A2 COL6A1
4 collagen vi-related myopathy 29.2 COL6A3 COL6A2 COL6A1
5 myopathy 29.2 COL6A3 COL6A2 COL6A1
6 bethlem myopathy 1 29.1 COL6A3 COL6A2 COL6A1
7 ullrich congenital muscular dystrophy 2 10.1
8 keloid formation 10.1
9 scoliosis 10.1
10 keloid disorder 10.1
11 hypotonia 10.1
12 down syndrome 9.4 COL6A2 COL6A1
13 walker-warburg syndrome 9.2 COL6A3 COL6A2 COL6A1

Graphical network of the top 20 diseases related to Collagen Vi-Related Dystrophies:



Diseases related to Collagen Vi-Related Dystrophies

Symptoms & Phenotypes for Collagen Vi-Related Dystrophies

Drugs & Therapeutics for Collagen Vi-Related Dystrophies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Global Registry for COL6-related Dystrophies Recruiting NCT04020159

Search NIH Clinical Center for Collagen Vi-Related Dystrophies

Genetic Tests for Collagen Vi-Related Dystrophies

Anatomical Context for Collagen Vi-Related Dystrophies

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

40
Skin, Endothelial

Publications for Collagen Vi-Related Dystrophies

Articles related to Collagen Vi-Related Dystrophies:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD. 25
32585628 2020
2
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). 25
31555977 2020
3
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. 25
30895940 2019
4
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. 25
29691892 2018
5
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies. 25
29419890 2018
6
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders. 25
28760337 2017
7
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
8
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 25
28424332 2017
9
Paternal germline mosaicism in collagen VI related myopathies. 25
25978941 2015
10
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
11
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. 25
25204870 2015
12
Diagnostic approach to the congenital muscular dystrophies. 25
24581957 2014
13
siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy. 25
24518369 2014
14
Natural history of pulmonary function in collagen VI-related myopathies. 25
24271325 2013
15
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. 25
24038877 2013
16
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. 25
23572247 2013
17
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 25
23326386 2013
18
Spontaneous keloid formation in patients with Bethlem myopathy. 25
23170014 2012
19
ColVI myopathies: where do we stand, where do we go? 25
21943391 2011
20
The collagen VI-related myopathies: muscle meets its matrix. 25
21691338 2011
21
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. 25
21280092 2011
22
Early onset collagen VI myopathies: Genetic and clinical correlations. 25
20976770 2010
23
166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands. 25
20211562 2010
24
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. 25
20106987 2010
25
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. 25
20225280 2010
26
Autosomal recessive Bethlem myopathy. 25
19949035 2009
27
Autosomal recessive inheritance of classic Bethlem myopathy. 25
19884007 2009
28
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. 25
19767415 2009
29
Natural history of Ullrich congenital muscular dystrophy. 25
19564581 2009
30
Skin changes in Ullrich congenital muscular dystrophy. 25
18948005 2008
31
Autosomal recessive myosclerosis myopathy is a collagen VI disorder. 25
18852439 2008
32
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. 25
18825676 2008
33
Predominant fiber atrophy and fiber type disproportion in early ullrich disease. 25
18720506 2008
34
Diagnosis and etiology of congenital muscular dystrophy. 25
18160674 2008
35
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 25
18366090 2008
36
A refined diagnostic algorithm for Bethlem myopathy. 25
18378883 2008
37
Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. 25
17785673 2007
38
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. 25
17537636 2007
39
Cardiac and pulmonary investigations in Bethlem myopathy. 25
17101832 2006
40
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. 25
16935502 2006
41
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. 25
16278855 2006
42
Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency. 25
16169245 2005
43
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. 25
16075202 2005
44
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. 25
15955946 2005
45
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. 25
15792870 2005
46
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 25
15689448 2005
47
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 25
15563506 2005
48
Ullrich disease due to deficiency of collagen VI in the sarcolemma. 25
14981181 2004
49
Muscle ultrasound in Bethlem myopathy. 25
14681763 2003
50
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. 25
12840783 2003

Variations for Collagen Vi-Related Dystrophies

Expression for Collagen Vi-Related Dystrophies

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

Pathways for Collagen Vi-Related Dystrophies

Pathways related to Collagen Vi-Related Dystrophies according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 COL6A3 COL6A2 COL6A1
2
Show member pathways
12.88 COL6A3 COL6A2 COL6A1
3
Show member pathways
12.79 COL6A3 COL6A2 COL6A1
4
Show member pathways
12.53 COL6A3 COL6A2 COL6A1
5
Show member pathways
12.44 COL6A3 COL6A2 COL6A1
6
Show member pathways
12.35 COL6A3 COL6A2 COL6A1
7
Show member pathways
12.23 COL6A3 COL6A2 COL6A1
8
Show member pathways
12.09 COL6A3 COL6A2 COL6A1
9
Show member pathways
11.52 COL6A3 COL6A2 COL6A1
10 10.77 COL6A3 COL6A2 COL6A1
11 10.45 COL6A3 COL6A2 COL6A1
12 10.37 COL6A3 COL6A2 COL6A1

GO Terms for Collagen Vi-Related Dystrophies

Cellular components related to Collagen Vi-Related Dystrophies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 COL6A3 COL6A2 COL6A1
2 extracellular exosome GO:0070062 9.63 COL6A3 COL6A2 COL6A1
3 extracellular space GO:0005615 9.61 COL6A3 COL6A2 COL6A1
4 collagen-containing extracellular matrix GO:0062023 9.54 COL6A3 COL6A2 COL6A1
5 endoplasmic reticulum lumen GO:0005788 9.5 COL6A3 COL6A2 COL6A1
6 extracellular matrix GO:0031012 9.43 COL6A3 COL6A2 COL6A1
7 extracellular vesicle GO:1903561 9.4 COL6A3 COL6A2
8 sarcolemma GO:0042383 9.33 COL6A3 COL6A2 COL6A1
9 collagen trimer GO:0005581 9.13 COL6A3 COL6A2 COL6A1
10 collagen type VI trimer GO:0005589 8.62 COL6A3 COL6A1

Biological processes related to Collagen Vi-Related Dystrophies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.13 COL6A3 COL6A2 COL6A1
2 extracellular matrix organization GO:0030198 8.8 COL6A3 COL6A2 COL6A1

Molecular functions related to Collagen Vi-Related Dystrophies 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 Dystrophies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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