MCID: MSC002
MIFTS: 40

Muscular Dystrophy-Dystroglycanopathy malady

Genetic diseases, Muscle diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories
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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 c, 5. 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.

Descriptions from OMIM:46 613818, 615249, 615041, 615181, 615287 613150, 614643, 613155, 613153, 613154, 615350, 615351, 613152, 613151, 613156, 614830 more

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy

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Muscular Dystrophy-Dystroglycanopathy, Aliases & Descriptions:

Name: Muscular Dystrophy-Dystroglycanopathy 8
 
Cmd Due to Dystroglycanopathy 8


Classifications:



Related Diseases for Muscular Dystrophy-Dystroglycanopathy

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Diseases in the Muscular Dystrophy-Dystroglycanopathy , Type a, 1 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, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
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 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 38)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.1POMT2
2muscular dystrophy-dystroglycanopathy , type c, 530.8FKRP, POMGNT2
3muscular dystrophy-dystroglycanopathy , type a, 430.5LARGE, POMGNT2, POMGNT1, POMT1, FKTN
4muscular dystrophy-dystroglycanopathy , type b, 530.4POMGNT2, POMT1, FKTN, FKRP, POMGNT1
5muscular dystrophy-dystroglycanopathy , type a, 130.1DAG1, LARGE, POMGNT2, POMGNT1, POMT1, FKRP
6muscular dystrophy-dystroglycanopathy , type b, 110.7
7muscular dystrophy-dystroglycanopathy , type c, 110.6
8muscular dystrophy-dystroglycanopathy , type a, 310.6
9muscular dystrophy-dystroglycanopathy , type c, 310.6
10muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.6
11muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.6
12muscular dystrophy-dystroglycanopathy , type a, 710.6
13muscular dystrophy-dystroglycanopathy , type a, 1210.6
14muscular dystrophy-dystroglycanopathy , type a, 1310.6
15muscular dystrophy-dystroglycanopathy , type a, 1010.6
16muscular dystrophy-dystroglycanopathy , type a, 210.6
17muscular dystrophy-dystroglycanopathy , type c, 210.6
18muscular dystrophy-dystroglycanopathy , type a, 510.6
19muscular dystrophy-dystroglycanopathy , type a, 610.6
20muscular dystrophy-dystroglycanopathy , type b, 310.5
21muscular dystrophy-dystroglycanopathy , type c, 1410.5
22muscular dystrophy-dystroglycanopathy , type b, 1410.5
23muscular dystrophy-dystroglycanopathy , type c, 910.5
24muscular dystrophy-dystroglycanopathy , type b, 410.5
25muscular dystrophy-dystroglycanopathy , type b, 210.5
26muscular dystrophy-dystroglycanopathy , type b, 610.5
27muscular dystrophy-dystroglycanopathy , type a, 1410.4
28muscular dystrophy-dystroglycanopathy , type c, 710.4
29muscular dystrophy-dystroglycanopathy , type c, 410.4
30congenital muscular dystrophy10.4LARGE
31limb-girdle muscular dystrophy9.9FKRP, FKTN, POMGNT2
32intellectual disability multi-gene panels9.9POMT1, FKTN, DAG1, FKRP
33mental retardation9.9POMT1, POMGNT1, FKRP, FKTN
34neuropathy9.9FKTN, POMT1, POMGNT1, DAG1, FKRP
35myopathy9.9DAG1, FKRP, FKTN, POMT1, POMGNT1
36lissencephaly9.8POMT2, POMGNT1, FKTN, FKRP, DAG1, POMT1
37duchenne muscular dystrophy9.7POMGNT2, DAG1, FKTN
38walker-warburg syndrome9.0POMGNT1, 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:

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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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MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy:

36
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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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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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:
44Novoseek, 24HMDB, 28IUPHAR
See all sources

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

idCompoundScoreTop Affiliating Genes
1mannose4410.1POMGNT2
2Dolichyl phosphate D-mannose2410.0POMT1, POMT2
3dolichol phosphate28 2410.9POMT2, POMT1
4alpha-d-mannoside449.8POMGNT1, POMGNT2
5n-acetyllactosamine44 2410.5B3GNT1, POMGNT2
6manganese44 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/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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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet