MCID: MSC002
MIFTS: 29

Muscular Dystrophy-Dystroglycanopathy malady

Muscle category

Summaries for Muscular Dystrophy-Dystroglycanopathy

Sources:
47OMIM, 33MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy is related to muscular dystrophy-dystroglycanopathy , type a, 14 and muscular dystrophy-dystroglycanopathy , type b, 1. 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:47 613150, 613151, 613153, 613154, 613155 613156, 613152 more

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy

Sources:
8Disease Ontology, 47OMIM
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Classifications:

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


Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy 8


External Ids:

Disease Ontology8 DOID:0050588

Related Diseases for Muscular Dystrophy-Dystroglycanopathy

Sources:
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 (congenital with brain and eye anomalies, type a, 11 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8
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 43)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type a, 1430.5LARGE, DAG1, FKTN, FKRP, POMGNT1, POMT1
2muscular dystrophy-dystroglycanopathy , type b, 110.6
3muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.6
4muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.6
5muscular dystrophy-dystroglycanopathy , type a, 110.6
6muscular dystrophy-dystroglycanopathy , type c, 110.6
7muscular dystrophy-dystroglycanopathy , type a, 310.5
8muscular dystrophy-dystroglycanopathy , type a, 710.5
9muscular dystrophy-dystroglycanopathy , type a, 1210.5
10muscular dystrophy-dystroglycanopathy , type a, 410.5
11muscular dystrophy-dystroglycanopathy , type a, 1310.5
12muscular dystrophy-dystroglycanopathy , type a, 1010.5
13muscular dystrophy-dystroglycanopathy , type a, 210.5
14muscular dystrophy-dystroglycanopathy , type a, 510.5
15muscular dystrophy-dystroglycanopathy , type a, 610.5
16muscular dystrophy-dystroglycanopathy , type b, 310.5
17muscular dystrophy-dystroglycanopathy , type c, 310.5
18muscular dystrophy-dystroglycanopathy , type c, 1410.5
19muscular dystrophy-dystroglycanopathy , type b, 1410.5
20muscular dystrophy-dystroglycanopathy , type c, 910.5
21muscular dystrophy-dystroglycanopathy , type b, 410.5
22muscular dystrophy-dystroglycanopathy , type b, 210.5
23muscular dystrophy-dystroglycanopathy , type c, 210.5
24muscular dystrophy-dystroglycanopathy , type b, 510.5
25muscular dystrophy-dystroglycanopathy , type c, 510.5
26muscular dystrophy-dystroglycanopathy , type b, 610.5
27muscular dystrophy-dystroglycanopathy , type c, 410.4
28limb-girdle muscular dystrophy type 2o10.2
29limb-girdle muscular dystrophy type 2n10.2
30congenital muscular dystrophy10.0LARGE
31microcephaly10.0POMT1
32hydrocephalus10.0POMGNT1
33dilated cardiomyopathy10.0FKRP
34limb-girdle muscular dystrophy10.0FKRP, FKTN
35duchenne muscular dystrophy10.0DAG1, FKTN
36mental retardation10.0POMT1, POMGNT1, FKRP, FKTN
37fukuyama type muscular dystrophy10.0LARGE, FKTN, POMGNT1, POMT1
38intellectual disability10.0POMT1, FKRP, FKTN, DAG1
39myopathy10.0DAG1, FKTN, FKRP, POMGNT1, POMT1
40neuropathy10.0POMT1, POMGNT1, FKRP, FKTN, DAG1
41lissencephaly10.0DAG1, FKTN, FKRP, POMGNT1, POMT1, POMT2
42muscular dystrophy10.0LARGE, DAG1, FKTN, FKRP, POMGNT1, POMT1
43walker-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

Sources:
47OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy

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

Search CenterWatch for Muscular Dystrophy-Dystroglycanopathy

Drug clinical trials:

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Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy

Search CenterWatch for Muscular Dystrophy-Dystroglycanopathy

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy

Animal Models for Muscular Dystrophy-Dystroglycanopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Muscular Dystrophy-Dystroglycanopathy

Sources:
51PubMed
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Articles related to Muscular Dystrophy-Dystroglycanopathy:

idTitleAuthorsYear
1
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. (23856421)
2013
2
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. (23109149)
2012
3
Congenital muscular dystrophy and alpha-dystroglycanopathy]. (18939472)
2008
4
Alpha-dystroglycanopathy (FCMD, MEB, etc): abnormal glycosylation and muscular dystrophy]. (16447766)
2005
5
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy. (12893968)
2003

Genetic Variations for Muscular Dystrophy-Dystroglycanopathy

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

Sources:
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

Sources:
30KEGG
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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

Sources:
29IUPHAR, 24HMDB, 45Novoseek
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Compounds related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dolichol phosphate29 2410.7POMT1, POMT2
2manganese45 2410.3POMGNT1, POMT1, POMT2
3mannose459.0FKTN, POMGNT1, POMT1

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy-Dystroglycanopathy

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