MCID: CLL037
MIFTS: 7

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 54

Classifications:



Summaries for Collagen Vi Related Muscular Dystrophy

NIH Rare Diseases : 54 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 muscular dystrophy. An important gene associated with Collagen Vi Related Muscular Dystrophy is COL6A1 (Collagen Type VI Alpha 1 Chain). Affiliated tissues include skin and testes.

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 muscular dystrophy 10.1

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

MalaCards organs/tissues related to Collagen Vi Related Muscular Dystrophy:

42
Skin, Testes

Publications for Collagen Vi Related Muscular Dystrophy

Articles related to Collagen Vi Related Muscular Dystrophy:

# Title Authors Year
1
Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy. ( 29244830 )
2017

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....