MCID: MSC002
MIFTS: 29

Muscular Dystrophy-Dystroglycanopathy malady

Muscle diseases category

Summaries for Muscular Dystrophy-Dystroglycanopathy

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46OMIM, 32MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy is related to muscular dystrophy-dystroglycanopathy , type a, 14 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 dolichol phosphate and manganese have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and vision/eye.

Description from OMIM:46 613150, 613151, 613153, 613154, 613155 613156, 613152 more

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy

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8Disease Ontology, 46OMIM
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Classifications:

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


Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy 8


External Ids:

Disease Ontology8 DOID:0050588

Related Diseases for Muscular Dystrophy-Dystroglycanopathy

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17GeneCards, 18GeneDecks
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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 44)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type a, 1430.5LARGE, DAG1, FKTN, FKRP, POMGNT1, POMT1
2muscular dystrophy30.3LARGE, DAG1, FKTN, FKRP, POMGNT1, POMT1
3muscular dystrophy-dystroglycanopathy , type b, 110.6
4muscular dystrophy-dystroglycanopathy , type a, 110.6
5muscular dystrophy-dystroglycanopathy , type c, 110.6
6muscular dystrophy-dystroglycanopathy , type a, 310.5
7muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.5
8muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.5
9muscular dystrophy-dystroglycanopathy , type a, 710.5
10muscular dystrophy-dystroglycanopathy , type a, 1210.5
11muscular dystrophy-dystroglycanopathy , type a, 410.5
12muscular dystrophy-dystroglycanopathy , type a, 1310.5
13muscular dystrophy-dystroglycanopathy , type a, 1010.5
14muscular dystrophy-dystroglycanopathy , type a, 210.5
15muscular dystrophy-dystroglycanopathy , type a, 510.5
16muscular dystrophy-dystroglycanopathy , type a, 610.5
17muscular dystrophy-dystroglycanopathy , type b, 310.5
18muscular dystrophy-dystroglycanopathy , type c, 310.5
19muscular dystrophy-dystroglycanopathy , type c, 1410.5
20muscular dystrophy-dystroglycanopathy , type b, 1410.5
21muscular dystrophy-dystroglycanopathy , type c, 910.5
22muscular dystrophy-dystroglycanopathy , type b, 410.5
23muscular dystrophy-dystroglycanopathy , type b, 210.5
24muscular dystrophy-dystroglycanopathy , type c, 210.5
25muscular dystrophy-dystroglycanopathy , type b, 510.5
26muscular dystrophy-dystroglycanopathy , type c, 510.5
27muscular dystrophy-dystroglycanopathy , type b, 610.5
28muscular dystrophy-dystroglycanopathy , type c, 410.4
29epilepsy syndrome10.2
30limb-girdle muscular dystrophy type 2o10.2
31limb-girdle muscular dystrophy type 2n10.2
32congenital muscular dystrophy10.0LARGE
33microcephaly10.0POMT1
34hydrocephalus10.0POMGNT1
35dilated cardiomyopathy10.0FKRP
36limb-girdle muscular dystrophy10.0FKRP, FKTN
37duchenne muscular dystrophy10.0DAG1, FKTN
38mental retardation10.0POMT1, POMGNT1, FKRP, FKTN
39fukuyama type muscular dystrophy10.0LARGE, FKTN, POMGNT1, POMT1
40intellectual disability10.0POMT1, FKRP, FKTN, DAG1
41myopathy10.0DAG1, FKTN, FKRP, POMGNT1, POMT1
42neuropathy10.0POMT1, POMGNT1, FKRP, FKTN, DAG1
43lissencephaly10.0DAG1, FKTN, FKRP, POMGNT1, POMT1, POMT2
44walker-warburg syndrome9.9ISPD, POMT2, LARGE, DAG1, FKTN, FKRP

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



Diseases related to muscular dystrophy-dystroglycanopathy

Clinical Features for Muscular Dystrophy-Dystroglycanopathy

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46OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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36MGI
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MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5LARGE, DAG1, FKRP, POMGNT1
2MP:00053918.3POMGNT1, FKRP, DAG1, LARGE
3MP:00053868.1LARGE, DAG1, FKTN, FKRP, POMGNT1
4MP:00053958.0DAG1, FKTN, POMGNT1, POMT2, ISPD
5MP:00053698.0POMT1, POMGNT1, FKRP, FKTN, DAG1, LARGE
6MP:00053787.8POMT2, POMGNT1, FKRP, FKTN, DAG1, LARGE
7MP:00053847.5ISPD, POMT2, POMGNT1, FKRP, FKTN, DAG1
8MP:00036317.1ISPD, POMT2, POMGNT1, FKRP, FKTN, DAG1
9MP:00107686.8ISPD, POMT2, POMT1, POMGNT1, FKRP, FKTN

Publications for Muscular Dystrophy-Dystroglycanopathy

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50PubMed
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Articles related to Muscular Dystrophy-Dystroglycanopathy:

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

Genetic Variations for Muscular Dystrophy-Dystroglycanopathy

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Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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1BioGPS, 15Gene 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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29KEGG
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Pathways related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3POMGNT1, POMT1, POMT2

Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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28IUPHAR, 24HMDB, 44Novoseek
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Compounds related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dolichol phosphate28 2410.7POMT1, POMT2
2manganese44 2410.3POMGNT1, POMT1, POMT2
3mannose449.0FKTN, POMGNT1, POMT1

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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16Gene Ontology
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Cellular components related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:0160109.5DAG1, FKRP
2sarcolemmaGO:0423839.4DAG1, FKRP
3Golgi membraneGO:0001399.3FKTN, FKRP, POMGNT1
4integral to membraneGO:0160217.6POMT2, POMT1, POMGNT1, FKRP, FKTN, DAG1

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

idNameGO IDScoreTop Affiliating Genes
1glycoprotein biosynthetic processGO:0091019.6LARGE, FKRP
2protein O-linked glycosylationGO:0064939.2POMGNT1, POMT1, POMT2
3protein O-linked mannosylationGO:0352698.8DPM2, ISPD

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

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:0167409.7FKTN, FKRP
2dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:0041699.5POMT1, POMT2

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet