MCID: CLL018
MIFTS: 20

Collagen Type Vi-Related Disorders

Aliases & Classifications for Collagen Type Vi-Related Disorders

MalaCards integrated aliases for Collagen Type Vi-Related Disorders:

Name: Collagen Type Vi-Related Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Parents of individuals with recessively inherited collagen vi-related disorders are usually heterozygous for a col6a1, col6a2, or col6a3 pathogenic variant, but do not appear to manifest any related symptoms....

Summaries for Collagen Type Vi-Related Disorders

MalaCards based summary : Collagen Type Vi-Related Disorders is related to collagen vi-related myopathy and myopathy. An important gene associated with Collagen Type Vi-Related Disorders is COL6A1 (Collagen Type VI Alpha 1 Chain), and among its related pathways/superpathways are Developmental Biology and Integrin Pathway. Affiliated tissues include heart, skin and endothelial.

GeneReviews: NBK1503

Related Diseases for Collagen Type Vi-Related Disorders

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



Diseases related to Collagen Type Vi-Related Disorders

Symptoms & Phenotypes for Collagen Type Vi-Related Disorders

Drugs & Therapeutics for Collagen Type Vi-Related Disorders

Search Clinical Trials , NIH Clinical Center for Collagen Type Vi-Related Disorders

Genetic Tests for Collagen Type Vi-Related Disorders

Anatomical Context for Collagen Type Vi-Related Disorders

MalaCards organs/tissues related to Collagen Type Vi-Related Disorders:

41
Heart, Skin, Endothelial, Skeletal Muscle

Publications for Collagen Type Vi-Related Disorders

Articles related to Collagen Type Vi-Related Disorders:

(show top 50) (show all 59)
# Title Authors PMID Year
1
ColVI myopathies: where do we stand, where do we go? 4
21943391 2011
2
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. 4
21280092 2011
3
Early onset collagen VI myopathies: Genetic and clinical correlations. 4
20976770 2010
4
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. 4
20302629 2010
5
Autosomal recessive Bethlem myopathy. 4
19949035 2009
6
Autosomal recessive inheritance of classic Bethlem myopathy. 4
19884007 2009
7
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. 4
19767415 2009
8
Autosomal recessive myosclerosis myopathy is a collagen VI disorder. 4
18852439 2008
9
A refined diagnostic algorithm for Bethlem myopathy. 4
18378883 2008
10
Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. 4
17537636 2007
11
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. 4
16935502 2006
12
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. 4
16278855 2006
13
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. 4
16130093 2005
14
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. 4
15955946 2005
15
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. 4
15792870 2005
16
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 4
15689448 2005
17
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 4
15563506 2005
18
Ullrich disease due to deficiency of collagen VI in the sarcolemma. 4
14981181 2004
19
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. 4
14659414 2004
20
Complexes of matrilin-1 and biglycan or decorin connect collagen VI microfibrils to both collagen II and aggrecan. 4
12840020 2003
21
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. 4
12840783 2003
22
Pathological characteristics of skeletal muscle in Ullrich's disease with collagen VI deficiency. 4
12868500 2003
23
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. 4
12467756 2002
24
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands. 4
12398845 2002
25
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. 4
12218063 2002
26
Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness. 4
12297580 2002
27
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. 4
11992252 2002
28
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. 4
11932968 2002
29
Alternative splicing of transcripts for the alpha 3 chain of mouse collagen VI: identification of an abundant isoform lacking domains N7-N10 in mouse and human. 4
12009329 2002
30
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 4
11865138 2002
31
The muscular dystrophies. 4
11879882 2002
32
Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. 4
11707460 2002
33
Frameshift mutation in the collagen VI gene causes Ullrich's disease. 4
11506412 2001
34
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. 4
11381124 2001
35
Inherited disorders of the extracellular matrix. 4
10590888 1999
36
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. 4
10419498 1999
37
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. 4
10399756 1999
38
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy. 4
10329467 1999
39
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. 4
10219778 1999
40
Respiratory muscle involvement in Bethlem myopathy. 4
9921869 1999
41
Congenital muscular dystrophies: 1997 update. 4
9545174 1998
42
The role of the alpha3(VI) chain in collagen VI assembly. Expression of an alpha3(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3(VI)-deficient cell line. 4
9516440 1998
43
Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. 4
9334230 1997
44
Binding of the NG2 proteoglycan to type VI collagen and other extracellular matrix molecules. 4
8824254 1996
45
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 4
8782832 1996
46
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. 4
7550355 1995
47
Head to tail organization of the human COL6A1 and COL6A2 genes by fiber-FISH. 4
8575781 1995
48
The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. 4
1584251 1992
49
Human alpha 3(VI) collagen gene. Characterization of exons coding for the amino-terminal globular domain and alternative splicing in normal and tumor cells. 4
2022673 1991
50
Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini. 4
1690728 1990

Variations for Collagen Type Vi-Related Disorders

Expression for Collagen Type Vi-Related Disorders

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

Pathways for Collagen Type Vi-Related Disorders

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 COL6A3 COL6A2 COL6A1
2
Show member pathways
12.81 COL6A3 COL6A2 COL6A1
3
Show member pathways
12.55 COL6A3 COL6A2 COL6A1
4
Show member pathways
12.47 COL6A3 COL6A2 COL6A1
5
Show member pathways
12.38 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
11.68 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 Type Vi-Related Disorders

Cellular components related to Collagen Type Vi-Related Disorders 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 extracellular matrix GO:0031012 9.54 COL6A3 COL6A2 COL6A1
5 endoplasmic reticulum lumen GO:0005788 9.5 COL6A3 COL6A2 COL6A1
6 collagen-containing extracellular matrix GO:0062023 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 Type Vi-Related Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.43 COL6A3 COL6A2 COL6A1
2 protein heterotrimerization GO:0070208 9.16 COL6A2 COL6A1
3 extracellular matrix organization GO:0030198 9.13 COL6A3 COL6A2 COL6A1
4 growth plate cartilage chondrocyte morphogenesis GO:0003429 8.8 COL6A3 COL6A2 COL6A1

Molecular functions related to Collagen Type Vi-Related Disorders 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 Type Vi-Related Disorders

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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