MCID: MSC002
MIFTS: 30

Muscular Dystrophy-Dystroglycanopathy malady

Genetic diseases (common), Muscle diseases, Neuronal diseases, Mental diseases categories

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy

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Muscular Dystrophy-Dystroglycanopathy, Aliases & Descriptions:

Name: Muscular Dystrophy-Dystroglycanopathy 9
 
Cmd Due to Dystroglycanopathy 9


Classifications:



External Ids:

Disease Ontology9 DOID:0050588

Summaries for Muscular Dystrophy-Dystroglycanopathy

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MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy, also known as cmd due to dystroglycanopathy, is related to muscular dystrophy and muscular dystrophy-dystroglycanopathy , type a, 4. An important gene associated with Muscular Dystrophy-Dystroglycanopathy is FKRP (fukutin related protein), and among its related pathways is Other types of O-glycan biosynthesis. The compounds mannose and Dolichyl phosphate D-mannose have been mentioned in the context of this disorder. Related mouse phenotypes are other and muscle.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy

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Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 4
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Diseases related to Muscular Dystrophy-Dystroglycanopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.0POMT2
2muscular dystrophy-dystroglycanopathy , type a, 430.6LARGE, FKTN, POMT1, POMGNT1, POMGNT2
3muscular dystrophy-dystroglycanopathy , type b, 110.7
4muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.7
5muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.7
6muscular dystrophy-dystroglycanopathy , type a, 110.7
7muscular dystrophy-dystroglycanopathy , type c, 110.7
8muscular dystrophy-dystroglycanopathy , type a, 310.7
9muscular dystrophy-dystroglycanopathy , type a, 710.7
10muscular dystrophy-dystroglycanopathy , type a, 1210.7
11muscular dystrophy-dystroglycanopathy , type a, 1010.7
12muscular dystrophy-dystroglycanopathy , type a, 210.7
13muscular dystrophy-dystroglycanopathy , type a, 510.7
14muscular dystrophy-dystroglycanopathy , type a, 610.7
15muscular dystrophy-dystroglycanopathy , type b, 310.6
16muscular dystrophy-dystroglycanopathy , type c, 310.6
17muscular dystrophy-dystroglycanopathy , type c, 910.6
18muscular dystrophy-dystroglycanopathy , type b, 410.6
19muscular dystrophy-dystroglycanopathy , type a, 1310.6
20muscular dystrophy-dystroglycanopathy , type b, 210.6
21muscular dystrophy-dystroglycanopathy , type c, 210.6
22muscular dystrophy-dystroglycanopathy , type b, 510.6
23muscular dystrophy-dystroglycanopathy , type c, 510.6
24muscular dystrophy-dystroglycanopathy , type b, 610.6
25muscular dystrophy-dystroglycanopathy , type c, 1410.6
26muscular dystrophy-dystroglycanopathy , type b, 1410.6
27muscular dystrophy-dystroglycanopathy , type c, 410.6
28muscular dystrophy-dystroglycanopathy , type a, 1410.5
29muscular dystrophy-dystroglycanopathy , type c, 710.5
30muscular dystrophy-dystroglycanopathy , type c, 1210.5
31muscular dystrophy, congenital10.4LARGE
32autosomal recessive limb-girdle muscular dystrophy type 2o10.3
33autosomal recessive limb-girdle muscular dystrophy type 2n10.3
34autosomal recessive limb-girdle muscular dystrophy type 2i10.0FKRP, POMGNT2
35limb-girdle muscular dystrophy9.9FKRP, FKTN, POMGNT2
36intellectual disability multi-gene panels9.9DAG1, POMT1, FKTN, FKRP
37mental retardation9.9POMGNT1, POMT1, FKTN, FKRP
38neuropathy9.9FKRP, FKTN, POMT1, POMGNT1, DAG1
39myopathy9.9DAG1, POMGNT1, POMT1, FKTN, FKRP
40lissencephaly9.8FKTN, POMT1, POMT2, POMGNT1, DAG1, FKRP
41duchenne muscular dystrophy9.7FKTN, POMGNT2, DAG1
42muscle eye brain disease9.4FKRP, FKTN, POMT1, POMGNT1, POMGNT2, LARGE
43walker-warburg syndrome9.0FKRP, FKTN, POMT1, POMT2, POMGNT1, POMGNT2

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy:



Diseases related to muscular dystrophy-dystroglycanopathy

Symptoms for Muscular Dystrophy-Dystroglycanopathy

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Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy

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Animal Models for Muscular Dystrophy-Dystroglycanopathy or affiliated genes

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MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.5DAG1, B3GNT1, FKTN, POMT2, POMGNT1, ISPD
2MP:00053698.3B3GNT1, POMT1, FKRP, FKTN, POMGNT1, LARGE
3MP:00053828.3POMK, FKRP, DAG1, LARGE, POMGNT1
4MP:00107687.5FKRP, DAG1, LARGE, ISPD, POMGNT1, POMT2
5MP:00053847.3DAG1, ISPD, POMK, POMGNT1, FKTN, FKRP
6MP:00053867.3FKTN, FKRP, LARGE, POMGNT1, B3GNT1, DAG1
7MP:00036317.1POMT2, FKTN, POMGNT1, POMK, DAG1, ISPD

Publications for Muscular Dystrophy-Dystroglycanopathy

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Articles related to Muscular Dystrophy-Dystroglycanopathy:

idTitleAuthorsYear
1
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. (23109149)
2012

Variations for Muscular Dystrophy-Dystroglycanopathy

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Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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Pathways related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7POMT1, POMT2, POMGNT1

Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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Sources:
43Novoseek, 24HMDB, 28IUPHAR
See all sources

Compounds related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1mannose4310.1POMGNT2
2Dolichyl phosphate D-mannose2410.0POMT1, POMT2
3dolichol phosphate28 2410.9POMT2, POMT1
4alpha-d-mannoside439.8POMGNT1, POMGNT2
5n-acetyllactosamine43 2410.5B3GNT1, POMGNT2
6manganese43 2410.4POMT1, POMT2, POMGNT1

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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Cellular components related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:00160109.7FKRP, DAG1
2sarcolemmaGO:00423839.7FKRP, DAG1
3integral component of Golgi membraneGO:00301739.5B3GNT1, LARGE
4Golgi membraneGO:00001399.0B3GALNT2, B3GNT1, FKRP, FKTN, POMGNT1
5endoplasmic reticulumGO:00057838.9POMGNT2, POMT1, FKTN, B3GALNT2
6endoplasmic reticulum membraneGO:00057898.1POMGNT2, POMK, POMT2, POMT1, DPM2
7integral component of membraneGO:00160217.0DAG1, POMGNT2, POMK, POMGNT1, POMT2, POMT1

Biological processes related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycoprotein biosynthetic processGO:00091019.6FKRP, LARGE
2dolichol-linked oligosaccharide biosynthetic processGO:00064889.5DPM2, GMPPB
3protein O-linked mannosylationGO:00352699.5DPM2, ISPD
4protein glycosylationGO:00064869.2LARGE, B3GNT1, B3GALNT2
5protein O-linked glycosylationGO:00064938.2B3GALNT2, POMT1, POMGNT1, POMK, POMGNT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:001674010.0FKRP, FKTN
2dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:00041699.7POMT1, POMT2
3acetylglucosaminyltransferase activityGO:00083759.1B3GALNT2, POMGNT2, LARGE

Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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Sources for Muscular Dystrophy-Dystroglycanopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet