MCID: MSC002
MIFTS: 37

Muscular Dystrophy-Dystroglycanopathy malady

Genetic diseases, Neuronal diseases, Muscle diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Muscular Dystrophy-Dystroglycanopathy

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48OMIM, 34MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy is related to muscular dystrophy-dystroglycanopathy , type c, 5 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.

Description from OMIM:48 613151, 613155, 613152, 613156, 613154 613150, 613153 more

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy

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9Disease Ontology, 48OMIM
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Classifications:



Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy 9


External Ids:

Disease Ontology9 DOID:0050588

Related Diseases for Muscular Dystrophy-Dystroglycanopathy

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18GeneCards, 19GeneDecks
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Diseases in the Muscular Dystrophy-Dystroglycanopathy , Type a, 7 family:

muscular dystrophy-dystroglycanopathy 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, 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 40)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type c, 530.8FKRP, POMGNT2
2muscular dystrophy30.6POMT2
3muscular dystrophy-dystroglycanopathy , type a, 1430.4DAG1, LARGE, POMGNT2, POMGNT1, POMT1, FKRP
4muscular dystrophy-dystroglycanopathy , type b, 110.7
5muscular dystrophy-dystroglycanopathy , type a, 110.6
6muscular dystrophy-dystroglycanopathy , type c, 110.6
7muscular dystrophy-dystroglycanopathy , type a, 310.6
8muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.6
9muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.6
10muscular dystrophy-dystroglycanopathy , type a, 710.6
11muscular dystrophy-dystroglycanopathy , type a, 1210.6
12muscular dystrophy-dystroglycanopathy , type a, 410.6
13muscular dystrophy-dystroglycanopathy , type a, 1310.6
14muscular dystrophy-dystroglycanopathy , type a, 1010.6
15muscular dystrophy-dystroglycanopathy , type a, 210.6
16muscular dystrophy-dystroglycanopathy , type a, 510.6
17muscular dystrophy-dystroglycanopathy , type a, 610.6
18muscular dystrophy-dystroglycanopathy , type b, 310.5
19muscular dystrophy-dystroglycanopathy , type c, 310.5
20muscular dystrophy-dystroglycanopathy , type c, 1410.5
21muscular dystrophy-dystroglycanopathy , type b, 1410.5
22muscular dystrophy-dystroglycanopathy , type c, 910.5
23muscular dystrophy-dystroglycanopathy , type b, 410.5
24muscular dystrophy-dystroglycanopathy , type b, 210.5
25muscular dystrophy-dystroglycanopathy , type c, 210.5
26muscular dystrophy-dystroglycanopathy , type b, 510.5
27muscular dystrophy-dystroglycanopathy , type b, 610.5
28muscular dystrophy-dystroglycanopathy , type c, 410.4
29limb-girdle muscular dystrophy type 2o10.3
30limb-girdle muscular dystrophy type 2n10.3
31congenital muscular dystrophy10.1LARGE
32limb-girdle muscular dystrophy10.0FKRP, FKTN, POMGNT2
33intellectual disability10.0POMT1, FKTN, DAG1, FKRP
34mental retardation10.0POMT1, POMGNT1, FKRP, FKTN
35neuropathy10.0FKTN, POMT1, POMGNT1, DAG1, FKRP
36myopathy10.0DAG1, FKRP, FKTN, POMT1, POMGNT1
37lissencephaly9.9POMT2, POMGNT1, FKTN, FKRP, DAG1, POMT1
38fukuyama type muscular dystrophy9.9LARGE, POMGNT2, POMGNT1, POMT1, FKTN
39duchenne muscular dystrophy9.9POMGNT2, DAG1, FKTN
40walker-warburg syndrome9.8POMGNT1, 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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48OMIM
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Clinical features from OMIM:

613151,613155,613152,613156,613154,613150,613153

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch 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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38MGI
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MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy:

38
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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53PubMed
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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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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51PathCards, 31KEGG
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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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46Novoseek, 25HMDB, 30IUPHAR
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Compounds related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mannose4610.1POMGNT2
2Dolichyl phosphate D-mannose2510.0POMT1, POMT2
3dolichol phosphate30 2510.9POMT2, POMT1
4alpha-d-mannoside469.8POMGNT1, POMGNT2
5n-acetyllactosamine46 2510.5B3GNT1, POMGNT2
6manganese46 2510.4POMT1, POMT2, POMGNT1

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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17Gene Ontology
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Cellular components related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:0160109.7FKRP, DAG1
2sarcolemmaGO:0423839.7FKRP, DAG1
3integral component of Golgi membraneGO:0301739.5B3GNT1, LARGE
4Golgi membraneGO:0001399.0B3GALNT2, B3GNT1, FKRP, FKTN, POMGNT1
5endoplasmic reticulumGO:0057838.9POMGNT2, POMT1, FKTN, B3GALNT2
6endoplasmic reticulum membraneGO:0057898.1POMGNT2, POMK, POMT2, POMT1, DPM2
7integral component of membraneGO:0160217.0DAG1, POMGNT2, POMK, POMGNT1, POMT2, POMT1

Biological processes related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycoprotein biosynthetic processGO:0091019.6FKRP, LARGE
2dolichol-linked oligosaccharide biosynthetic processGO:0064889.5DPM2, GMPPB
3protein O-linked mannosylationGO:0352699.5DPM2, ISPD
4protein glycosylationGO:0064869.2LARGE, B3GNT1, B3GALNT2
5protein O-linked glycosylationGO:0064938.2B3GALNT2, POMT1, POMGNT1, POMK, POMGNT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:01674010.0FKRP, FKTN
2dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:0041699.7POMT1, POMT2
3acetylglucosaminyltransferase activityGO:0083759.1B3GALNT2, POMGNT2, LARGE

Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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Sources for Muscular Dystrophy-Dystroglycanopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet