MCID: CLL037
MIFTS: 7

Collagen Vi Related Muscular Dystrophy

Categories: Rare diseases, Muscle diseases

Aliases & Classifications for Collagen Vi Related Muscular Dystrophy

MalaCards integrated aliases for Collagen Vi Related Muscular Dystrophy:

Name: Collagen Vi Related Muscular Dystrophy 53

Classifications:



Summaries for Collagen Vi Related Muscular Dystrophy

NIH Rare Diseases : 53 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 testes and skin.

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 10.0

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:

41
Testes, Skin

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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