MCID: MSC002
MIFTS: 35

Muscular Dystrophy-Dystroglycanopathy malady

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

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-dystroglycanopathy , type a, 4 and muscular dystrophy. 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.

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy

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Muscular Dystrophy-Dystroglycanopathy, Aliases & Descriptions:

Name: Muscular Dystrophy-Dystroglycanopathy 10
 
Cmd Due to Dystroglycanopathy 10


Classifications:



External Ids:

Disease Ontology10 DOID:0050588

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/GeneDecks gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type a, 430.9LARGE, POMGNT2, POMGNT1, POMT1, FKTN
2muscular dystrophy30.5POMT2
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, 310.6
9muscular dystrophy-dystroglycanopathy , type c, 310.6
10muscular dystrophy-dystroglycanopathy , type a, 710.6
11muscular dystrophy-dystroglycanopathy , type a, 1210.6
12muscular dystrophy-dystroglycanopathy , type a, 1010.6
13muscular dystrophy-dystroglycanopathy , type a, 210.6
14muscular dystrophy-dystroglycanopathy , type c, 210.6
15muscular dystrophy-dystroglycanopathy , type a, 510.6
16muscular dystrophy-dystroglycanopathy , type a, 610.6
17muscular dystrophy-dystroglycanopathy , type b, 310.6
18muscular dystrophy-dystroglycanopathy , type c, 910.6
19muscular dystrophy-dystroglycanopathy , type b, 410.6
20muscular dystrophy-dystroglycanopathy , type a, 1310.6
21muscular dystrophy-dystroglycanopathy , type b, 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, 1410.5
26muscular dystrophy-dystroglycanopathy , type b, 1410.5
27muscular dystrophy-dystroglycanopathy , type c, 410.5
28muscular dystrophy-dystroglycanopathy , type a, 1410.4
29muscular dystrophy-dystroglycanopathy , type c, 710.4
30muscular dystrophy-dystroglycanopathy , type c, 1210.4
31muscular dystrophy, congenital10.0LARGE
32autosomal recessive limb-girdle muscular dystrophy type 2i10.0FKRP, POMGNT2
33limb-girdle muscular dystrophy10.0FKRP, FKTN, POMGNT2
34intellectual disability multi-gene panels10.0POMT1, FKTN, DAG1, FKRP
35mental retardation10.0POMT1, POMGNT1, FKRP, FKTN
36neuropathy10.0FKTN, POMT1, POMGNT1, DAG1, FKRP
37myopathy10.0DAG1, FKRP, FKTN, POMT1, POMGNT1
38lissencephaly10.0POMT2, POMGNT1, FKTN, FKRP, DAG1, POMT1
39duchenne muscular dystrophy10.0POMGNT2, DAG1, FKTN
40muscle eye brain disease9.9DAG1, LARGE, POMGNT2, POMGNT1, POMT1, FKRP
41walker-warburg syndrome9.9POMGNT1, POMT1, FKTN, FKRP, POMGNT2, TMEM5

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:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.5B3GNT1, FKTN, POMT2, POMGNT1, ISPD, DAG1
2MP:00053698.3DAG1, LARGE, POMGNT1, POMT1, FKTN, FKRP
3MP:00053828.3FKRP, POMGNT1, POMK, LARGE, DAG1
4MP:00107687.5DAG1, ISPD, LARGE, POMGNT1, POMT2, POMT1
5MP:00053847.3DAG1, ISPD, POMK, POMGNT1, POMT2, FKTN
6MP:00053867.3DAG1, LARGE, POMK, POMGNT1, FKTN, FKRP
7MP:00036317.1DAG1, ISPD, LARGE, POMK, POMGNT1, POMT2

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/GeneDecks:

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:
45Novoseek, 26HMDB, 30IUPHAR
See all sources

Compounds related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mannose4510.1POMGNT2
2Dolichyl phosphate D-mannose2610.0POMT1, POMT2
3dolichol phosphate30 2610.9POMT2, POMT1
4alpha-d-mannoside459.8POMGNT1, POMGNT2
5n-acetyllactosamine45 2610.5B3GNT1, POMGNT2
6manganese45 2610.4POMT1, 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/GeneDecks:

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/GeneDecks:

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/GeneDecks:

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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet