MCID: CLL018
MIFTS: 17

Collagen Type Vi-Related Disorders malady

Genetic diseases (common) category

Summaries for Collagen Type Vi-Related Disorders

About this section
Sources:
20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Collagen Type Vi-Related Disorders is related to muscular dystrophy and bethlem myopathy. An important gene associated with Collagen Type Vi-Related Disorders is COL6A1 (collagen, type VI, alpha 1), and among its related pathways are L1CAM interactions and NCAM signaling for neurite out-growth.

GeneReviews summary for bethlem

Aliases & Classifications for Collagen Type Vi-Related Disorders

About this section
Sources:
20GeneReviews, 21GeneTests
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

collagen type vi-related disorders 20 21


Related Diseases for Collagen Type Vi-Related Disorders

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy10.0COL6A3, COL6A1
2bethlem myopathy9.9COL6A1, COL6A3, COL6A2
3ullrich congenital muscular dystrophy9.9COL6A1, COL6A3, COL6A2
4down syndrome9.9COL6A1, COL6A3, COL6A2
5myopathy9.9COL6A1, COL6A3, COL6A2

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



Diseases related to collagen type vi-related disorders

Symptoms for Collagen Type Vi-Related Disorders

About this section

Drugs & Therapeutics for Collagen Type Vi-Related Disorders

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Collagen Type Vi-Related Disorders

Drug clinical trials:

Search ClinicalTrials for Collagen Type Vi-Related Disorders

Search NIH Clinical Center for Collagen Type Vi-Related Disorders

Search CenterWatch for Collagen Type Vi-Related Disorders

Genetic Tests for Collagen Type Vi-Related Disorders

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Collagen Type Vi-Related Disorders:

id Genetic test Affiliating Genes
1 Collagen Type Vi-Related Disorders21 COL6A1, COL6A2, COL6A3

Anatomical Context for Collagen Type Vi-Related Disorders

About this section

Animal Models for Collagen Type Vi-Related Disorders or affiliated genes

About this section

Publications for Collagen Type Vi-Related Disorders

About this section
Sources:
53PubMed
See all sources

Articles related to Collagen Type Vi-Related Disorders:

idTitleAuthorsYear
1
Collagen Type VI-Related Disorders (20301676)
1993

Variations for Collagen Type Vi-Related Disorders

About this section

Expression for genes affiliated with Collagen Type Vi-Related Disorders

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Collagen Type Vi-Related Disorders

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

Pathways for genes affiliated with Collagen Type Vi-Related Disorders

About this section
Sources:
51PathCards, 56Reactome, 54QIAGEN, 31KEGG, 39NCBI BioSystems Database
See all sources

Pathways related to Collagen Type Vi-Related Disorders according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5COL6A2, COL6A3, COL6A1
2
Show member pathways
8.5COL6A2, COL6A1, COL6A3
3
Show member pathways
8.5COL6A1, COL6A2, COL6A3
4
Show member pathways
8.5COL6A2, COL6A3, COL6A1
5
Show member pathways
8.5COL6A3, COL6A2, COL6A1
6
Show member pathways
8.5COL6A1, COL6A3, COL6A2
7
Show member pathways
8.5COL6A1, COL6A3, COL6A2
8
Show member pathways
8.5COL6A1, COL6A3, COL6A2
98.5COL6A1, COL6A3, COL6A2
108.5COL6A1, COL6A3, COL6A2
11
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
8.5COL6A1, COL6A3, COL6A2
12
Show member pathways
8.5COL6A1, COL6A3, COL6A2

Compounds for genes affiliated with Collagen Type Vi-Related Disorders

About this section

GO Terms for genes affiliated with Collagen Type Vi-Related Disorders

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Collagen Type Vi-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type VIGO:0055899.4COL6A3, COL6A1
2protein complexGO:0432349.0COL6A2, COL6A1
3sarcolemmaGO:0423838.7COL6A2, COL6A3, COL6A1
4extracellular matrixGO:0310128.6COL6A2, COL6A3, COL6A1
5endoplasmic reticulum lumenGO:0057888.5COL6A1, COL6A3, COL6A2
6extracellular regionGO:0055768.4COL6A2, COL6A3, COL6A1
7extracellular vesicular exosomeGO:0700628.2COL6A2, COL6A3, COL6A1

Biological processes related to Collagen Type Vi-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterotrimerizationGO:0702089.0COL6A2, COL6A1
2collagen catabolic processGO:0305748.6COL6A2, COL6A3, COL6A1
3extracellular matrix disassemblyGO:0226178.6COL6A2, COL6A3, COL6A1
4cell adhesionGO:0071558.5COL6A2, COL6A3, COL6A1
5extracellular matrix organizationGO:0301988.4COL6A1, COL6A3, COL6A2
6axon guidanceGO:0074118.2COL6A2, COL6A3, COL6A1

Products for genes affiliated with Collagen Type Vi-Related Disorders

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Collagen Type Vi-Related Disorders

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet