MCID: CLL037
MIFTS: 8

Collagen Vi Related Muscular Dystrophy

Categories: Muscle diseases, Rare diseases

Aliases & Classifications for Collagen Vi Related Muscular Dystrophy

MalaCards integrated aliases for Collagen Vi Related Muscular Dystrophy:

Name: Collagen Vi Related Muscular Dystrophy 20

Classifications:



Summaries for Collagen Vi Related Muscular Dystrophy

GARD : 20 Collagen type VI-related disorders are caused by alterations ( mutations ) of collagen genes ( COL6A1, COL6A2, or COL6A3 genes) and include diseases that are mild like Bethlem myopathy or more severe like the Ullrich congenital muscular dystrophy (CMD). Diagnosis depends on typical clinical features, muscle biopsy (for suspected Ullrich CMD) or skin biopsy (for suspected Bethlem myopathy) and genetic testing that shows mutations in the collagen VI genes. The treatment depends on the signs and symptoms that are present and may include physiotherapy regarding stretching exercises, splinting, and mobility aids and orthopedic surgeries.

MalaCards based summary : Collagen Vi Related Muscular Dystrophy is related to myopathy and muscular dystrophy. An important gene associated with Collagen Vi Related Muscular Dystrophy is COL6A1 (Collagen Type VI Alpha 1 Chain).

Related Diseases for Collagen Vi Related Muscular Dystrophy

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

# Related Disease Score Top Affiliating Genes
1 myopathy 10.3
2 muscular dystrophy 10.3
3 bethlem myopathy 1 10.1
4 ullrich congenital muscular dystrophy 1 10.1
5 muscular dystrophy, congenital, lmna-related 10.1
6 ring chromosome 21 10.1
7 hypotonia 10.1
8 ring chromosome 10.1

Graphical network of the top 20 diseases related to Collagen Vi Related Muscular Dystrophy:



Diseases related to Collagen Vi Related Muscular Dystrophy

Symptoms & Phenotypes for Collagen Vi Related Muscular Dystrophy

Drugs & Therapeutics for Collagen Vi Related Muscular Dystrophy

Search Clinical Trials , NIH Clinical Center for Collagen Vi Related Muscular Dystrophy

Genetic Tests for Collagen Vi Related Muscular Dystrophy

Anatomical Context for Collagen Vi Related Muscular Dystrophy

Publications for Collagen Vi Related Muscular Dystrophy

Articles related to Collagen Vi Related Muscular Dystrophy:

# Title Authors PMID Year
1
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion. 61
32663882 2020
2
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. 61
28087121 2017
3
Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy. 61
29244830 2017
4
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies. 61
25307854 2015

Variations for Collagen Vi Related Muscular Dystrophy

Expression for Collagen Vi Related Muscular Dystrophy

Search GEO for disease gene expression data for Collagen Vi Related Muscular Dystrophy.

Pathways for Collagen Vi Related Muscular Dystrophy

GO Terms for Collagen Vi Related Muscular Dystrophy

Sources for Collagen Vi Related Muscular Dystrophy

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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