UCMD
MCID: SCL023
MIFTS: 18

Scleroatonic Muscular Dystrophy (UCMD) malady

Muscle, Genetic categories

Summaries for Scleroatonic Muscular Dystrophy

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33MalaCards
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MalaCards: Scleroatonic Muscular Dystrophy, also known as late onset scleroatonic familial myopathy, is related to ullrich congenital muscular dystrophy and bethlem myopathy. An important gene associated with Scleroatonic Muscular Dystrophy is COL6A2 (collagen, type VI, alpha 2), and among its related pathways are Axon guidance and Signaling by FGFR.

Aliases & Classifications for Scleroatonic Muscular Dystrophy

Sources:
43NIH Rare Diseases, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Muscle


Aliases & Descriptions:

scleroatonic muscular dystrophy 43 61
late onset scleroatonic familial myopathy 43
ullrich scleroatonic muscular dystrophy 43
ullrich congenital muscular dystrophy 43
ullrich disease 43
ucmd 43


Related Diseases for Scleroatonic Muscular Dystrophy

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Scleroatonic Muscular Dystrophy:



Diseases related to scleroatonic muscular dystrophy

Clinical Features for Scleroatonic Muscular Dystrophy

Drugs & Therapeutics for Scleroatonic Muscular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Scleroatonic Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Scleroatonic Muscular Dystrophy

Search NIH Clinical Center for Scleroatonic Muscular Dystrophy

Search CenterWatch for Scleroatonic Muscular Dystrophy

Genetic Tests for Scleroatonic Muscular Dystrophy

Anatomical Context for Scleroatonic Muscular Dystrophy

Animal Models for Scleroatonic Muscular Dystrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Scleroatonic Muscular Dystrophy

Sources:
51PubMed
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Articles related to Scleroatonic Muscular Dystrophy:

idTitleAuthorsYear
1
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. (16130093)
2005
2
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. (12467756)
2002
3
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. (12374585)
2002
4
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. (11381124)
2001

Genetic Variations for Scleroatonic Muscular Dystrophy

Expression for genes affiliated with Scleroatonic Muscular Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Scleroatonic Muscular Dystrophy

Search GEO for disease gene expression data for Scleroatonic Muscular Dystrophy.

Pathways for genes affiliated with Scleroatonic Muscular Dystrophy

Sources:
54Reactome, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Scleroatonic Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.5COL6A1, COL6A2, COL6A3
2
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8.5COL6A3, COL6A2, COL6A1
3
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8.5COL6A3, COL6A1, COL6A2
4
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8.5COL6A2, COL6A3, COL6A1
5
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8.5COL6A2, COL6A3, COL6A1
68.5COL6A2, COL6A3, COL6A1
7
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8.5COL6A2, COL6A3, COL6A1
88.5COL6A2, COL6A3, COL6A1
9
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8.5COL6A3, COL6A2, COL6A1
10
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8.5COL6A1, COL6A3, COL6A2
11
Hide members
8.5COL6A2, COL6A3, COL6A1
12
Hide members
8.5COL6A2, COL6A3, COL6A1
13
Hide members
8.5COL6A2, COL6A1, COL6A3

Compounds for genes affiliated with Scleroatonic Muscular Dystrophy

GO Terms for genes affiliated with Scleroatonic Muscular Dystrophy

Sources:
16Gene Ontology
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Cellular components related to Scleroatonic Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.3COL6A1, COL6A2
2collagen type VIGO:0055899.2COL6A1, COL6A3
3sarcolemmaGO:0423838.6COL6A2, COL6A3, COL6A1
4extracellular matrixGO:0310128.5COL6A1, COL6A3, COL6A2
5endoplasmic reticulum lumenGO:0057888.4COL6A2, COL6A3, COL6A1
6extracellular regionGO:0055768.2COL6A1, COL6A2, COL6A3

Biological processes related to Scleroatonic Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterotrimerizationGO:0702089.3COL6A2, COL6A1
2cell adhesionGO:0071559.1COL6A3, COL6A1
3collagen catabolic processGO:0305748.6COL6A2, COL6A3, COL6A1
4extracellular matrix disassemblyGO:0226178.6COL6A1, COL6A3, COL6A2
5extracellular matrix organizationGO:0301988.4COL6A2, COL6A3, COL6A1
6axon guidanceGO:0074118.2COL6A2, COL6A3, COL6A1

Products for genes affiliated with Scleroatonic Muscular Dystrophy

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  • Lysates
  • Antibodies

Sources for Scleroatonic Muscular Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet