MCID: CLL018
MIFTS: 15

Collagen Type Vi-Related Disorders malady

Categories: Genetic diseases

Aliases & Classifications for Collagen Type Vi-Related Disorders

Aliases & Descriptions for Collagen Type Vi-Related Disorders:

Name: Collagen Type Vi-Related Disorders 23 24

Characteristics:

HPO:

32
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...

Classifications:



Summaries for Collagen Type Vi-Related Disorders

MalaCards based summary : Collagen Type Vi-Related Disorders is related to collagen vi-related myopathy and collagen vi related muscular dystrophy. 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.

GeneReviews: NBK1503

Related Diseases for Collagen Type Vi-Related Disorders

Diseases in the Collagen Disease family:

Collagen Type Vi-Related Disorders

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

id Related Disease Score Top Affiliating Genes
1 collagen vi-related myopathy 11.2
2 collagen vi related muscular dystrophy 11.1
3 central corneal ulcer 9.8 COL6A2 COL6A3
4 arthrogryposis, distal, type 8 9.7 COL6A1 COL6A2
5 dfna2 nonsyndromic hearing loss 9.7 COL6A1 COL6A2 COL6A3
6 myelofibrosis 9.7 COL6A1 COL6A2 COL6A3
7 ullrich congenital muscular dystrophy 1 9.6 COL6A1 COL6A2 COL6A3
8 dystonia 27 9.6 COL6A1 COL6A2 COL6A3
9 muscular dystrophy, limb-girdle, type 1b 9.6 COL6A1 COL6A2 COL6A3
10 spindle cell sarcoma 9.6 COL6A1 COL6A2 COL6A3

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

Genetic tests related to Collagen Type Vi-Related Disorders:

id Genetic test Affiliating Genes
1 Collagen Type Vi-Related Disorders 24 COL6A1 COL6A2 COL6A3

Anatomical Context for Collagen Type Vi-Related Disorders

Publications for Collagen Type Vi-Related Disorders

Articles related to Collagen Type Vi-Related Disorders:

id Title Authors Year
1
Collagen Type VI-Related Disorders ( 20301676 )
1993

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 COL6A1 COL6A2 COL6A3
2
Show member pathways
12.77 COL6A1 COL6A2 COL6A3
3
Show member pathways
12.5 COL6A1 COL6A2 COL6A3
4
Show member pathways
12.35 COL6A1 COL6A2 COL6A3
5
Show member pathways
12.27 COL6A1 COL6A2 COL6A3
6
Show member pathways
12.15 COL6A1 COL6A2 COL6A3
7 11.97 COL6A1 COL6A2 COL6A3
8
Show member pathways
11.51 COL6A1 COL6A2 COL6A3
9 10.77 COL6A1 COL6A2 COL6A3
10 10.37 COL6A1 COL6A2 COL6A3

GO Terms for Collagen Type Vi-Related Disorders

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.63 COL6A1 COL6A2 COL6A3
2 extracellular space GO:0005615 9.61 COL6A1 COL6A2 COL6A3
3 proteinaceous extracellular matrix GO:0005578 9.54 COL6A1 COL6A2 COL6A3
4 extracellular matrix GO:0031012 9.5 COL6A1 COL6A2 COL6A3
5 endoplasmic reticulum lumen GO:0005788 9.43 COL6A1 COL6A2 COL6A3
6 extracellular vesicle GO:1903561 9.4 COL6A2 COL6A3
7 sarcolemma GO:0042383 9.33 COL6A1 COL6A2 COL6A3
8 collagen trimer GO:0005581 9.13 COL6A1 COL6A2 COL6A3
9 collagen type VI trimer GO:0005589 8.62 COL6A1 COL6A3

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

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.43 COL6A1 COL6A2 COL6A3
2 protein heterotrimerization GO:0070208 9.16 COL6A1 COL6A2
3 extracellular matrix organization GO:0030198 9.13 COL6A1 COL6A2 COL6A3
4 collagen catabolic process GO:0030574 8.8 COL6A1 COL6A2 COL6A3

Sources for Collagen Type Vi-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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