MCID: CLL018
MIFTS: 15

Collagen Type Vi-Related Disorders malady

Category: Genetic diseases (common)

Aliases & Classifications for Collagen Type Vi-Related Disorders

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Aliases & Descriptions for Collagen Type Vi-Related Disorders:

Name: Collagen Type Vi-Related Disorders 23 24

Characteristics:

GeneReviews:

23
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

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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 are Focal Adhesion and Phospholipase-C Pathway.

GeneReviews for NBK1503

Related Diseases for Collagen Type Vi-Related Disorders

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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:

idRelated DiseaseScoreTop Affiliating Genes
1collagen vi-related myopathy11.2
2collagen vi related muscular dystrophy11.1
3central corneal ulcer9.8COL6A2, COL6A3
4arthrogryposis, distal, type 89.7COL6A1, COL6A2
5dfna2 nonsyndromic hearing loss9.7COL6A1, COL6A2, COL6A3
6myelofibrosis9.7COL6A1, COL6A2, COL6A3
7ullrich congenital muscular dystrophy 19.6COL6A1, COL6A2, COL6A3
8dystonia 279.6COL6A1, COL6A2, COL6A3
9muscular dystrophy, limb-girdle, type 1b9.6COL6A1, COL6A2, COL6A3
10spindle cell sarcoma9.6COL6A1, COL6A2, COL6A3

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



Diseases related to collagen type vi-related disorders

Symptoms & Phenotypes for Collagen Type Vi-Related Disorders

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Drugs & Therapeutics for Collagen Type Vi-Related Disorders

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Interventional clinical trials:

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

Genetic Tests for Collagen Type Vi-Related Disorders

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Genetic tests related to Collagen Type Vi-Related Disorders:

id Genetic test Affiliating Genes
1 Collagen Type Vi-Related Disorders24 COL6A1, COL6A2, COL6A3

Anatomical Context for Collagen Type Vi-Related Disorders

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Publications for Collagen Type Vi-Related Disorders

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Articles related to Collagen Type Vi-Related Disorders:

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

Variations for Collagen Type Vi-Related Disorders

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Expression for genes affiliated with Collagen Type Vi-Related Disorders

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

Pathways for genes affiliated with Collagen Type Vi-Related Disorders

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

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

idNameGO IDScoreTop Affiliating Genes
1collagen type VI trimerGO:000558910.1COL6A1, COL6A3
2extracellular vesicleGO:19035619.8COL6A2, COL6A3
3collagen trimerGO:00055819.3COL6A1, COL6A2, COL6A3
4endoplasmic reticulum lumenGO:00057889.3COL6A1, COL6A2, COL6A3
5extracellular matrixGO:00310129.3COL6A1, COL6A2, COL6A3
6extracellular regionGO:00055769.2COL6A1, COL6A2, COL6A3
7extracellular spaceGO:00056159.2COL6A1, COL6A2, COL6A3
8proteinaceous extracellular matrixGO:00055789.0COL6A1, COL6A2, COL6A3
9sarcolemmaGO:00423838.5COL6A1, COL6A2, COL6A3

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesionGO:00071559.1COL6A1, COL6A2, COL6A3
2collagen catabolic processGO:00305749.1COL6A1, COL6A2, COL6A3
3protein heterotrimerizationGO:00702089.0COL6A1, COL6A2
4extracellular matrix organizationGO:00301988.8COL6A1, COL6A2, COL6A3

Sources for Collagen Type Vi-Related Disorders

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet