MCID: MSC002
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy malady

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Mental diseases, Rare diseases, Metabolic diseases, Fetal diseases, Eye diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy

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Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy:

Name: Muscular Dystrophy-Dystroglycanopathy 11 27 13
 
Cmd Due to Dystroglycanopathy 11

Classifications:



External Ids:

Disease Ontology11 DOID:0050588
ICD1030 G71.2

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 c, 1 and muscular dystrophy-dystroglycanopathy , type c, 3. An important gene associated with Muscular Dystrophy-Dystroglycanopathy is GMPPB (GDP-Mannose Pyrophosphorylase B), and among its related pathways are Other types of O-glycan biosynthesis and O-linked glycosylation.

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, 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 Suite gene sharing:

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type c, 133.8FKRP, POMT1
2muscular dystrophy-dystroglycanopathy , type c, 312.5
3muscular dystrophy-dystroglycanopathy , type c, 212.5
4muscular dystrophy-dystroglycanopathy , type c, 912.5
5muscular dystrophy-dystroglycanopathy , type b, 112.5
6muscular dystrophy-dystroglycanopathy , type c, 1412.5
7muscular dystrophy-dystroglycanopathy , type c, 512.5
8muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1112.5
9muscular dystrophy-dystroglycanopathy , type b, 512.5
10muscular dystrophy-dystroglycanopathy , type b, 612.5
11muscular dystrophy-dystroglycanopathy , type a, 112.5
12muscular dystrophy-dystroglycanopathy , type a, 712.4
13muscular dystrophy-dystroglycanopathy , type a, 1212.4
14muscular dystrophy-dystroglycanopathy , type a, 1012.4
15muscular dystrophy-dystroglycanopathy , type a, 212.4
16muscular dystrophy-dystroglycanopathy , type a, 512.4
17muscular dystrophy-dystroglycanopathy , type a, 612.4
18muscular dystrophy-dystroglycanopathy , type a, 312.4
19muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 812.4
20muscular dystrophy-dystroglycanopathy , type a, 912.4
21muscular dystrophy-dystroglycanopathy , type a, 1312.4
22muscular dystrophy-dystroglycanopathy , type c, 1212.4
23muscular dystrophy-dystroglycanopathy , type c, 412.4
24muscular dystrophy-dystroglycanopathy , type b, 312.4
25muscular dystrophy-dystroglycanopathy , type b, 412.4
26muscular dystrophy-dystroglycanopathy , type b, 212.4
27muscular dystrophy-dystroglycanopathy , type a, 412.4
28muscular dystrophy-dystroglycanopathy , type c, 712.4
29muscular dystrophy-dystroglycanopathy , type b, 1412.4
30muscular dystrophy-dystroglycanopathy , type a, 1412.4
31congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1012.1
32congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1212.1
33congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1312.1
34congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability12.0
35congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1412.0
36congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 612.0
37congenital muscular dystrophy-dystroglycanopathy with mental retardation type b 612.0
38gtdc2-related muscle diseases11.3
39dag1-related muscle diseases11.3
40walker-warburg syndrome11.2
41ispd-related muscle diseases11.2
42congenital muscular dystrophy due to dystroglycanopathy11.1
43muscle eye brain disease11.1
44nephronophthisis 2, infantile10.1FKRP, POMT2
45epilepsy10.1
46muscular dystrophy10.1
47systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood10.1FKRP, POMT1
48autosomal recessive limb-girdle muscular dystrophy type 2h10.0FKRP, POMT1
49prosthetic joint infection10.0FKRP, POMT2
50orofacial cleft 1310.0GMPPB, POMGNT1

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



Diseases related to muscular dystrophy-dystroglycanopathy

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy

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Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy

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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy:

id Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy27

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy

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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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4POMT1, POMT2
2
Show member pathways
8.5B3GALNT2, POMGNT1, POMT1, POMT2
3
Show member pathways
8.1B3GALNT2, GMPPB, POMGNT1, POMT1, POMT2
47.1B3GALNT2, FKRP, POMGNT1, POMT1, POMT2, TMEM5
5
Show member pathways
6.7B3GALNT2, FKRP, GMPPB, POMGNT1, POMT1, POMT2

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy

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Cellular components related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057838.9B3GALNT2, FKRP, POMT1, POMT2
2Golgi apparatusGO:00057948.8B3GALNT2, FKRP, POMGNT1, TMEM5
3Golgi membraneGO:00001398.2B3GALNT2, FKRP, POMGNT1, TMEM5

Biological processes related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ER-associated misfolded protein catabolic processGO:007171210.0POMT1, POMT2
2mannosylationGO:009750210.0POMT1, POMT2
3positive regulation of protein O-linked glycosylationGO:190410010.0POMT1, POMT2
4protein O-linked glycosylationGO:00064938.8B3GALNT2, POMGNT1, POMT1, POMT2
5protein O-linked mannosylationGO:00352698.1FKRP, POMT1, POMT2, TMEM5
6protein glycosylationGO:00064867.6B3GALNT2, FKRP, POMGNT1, POMT1, POMT2, TMEM5

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acetylglucosaminyltransferase activityGO:000837510.2B3GALNT2, POMGNT1
2dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:000416910.2POMT1, POMT2
3transferase activity, transferring glycosyl groupsGO:00167578.5B3GALNT2, POMGNT1, POMT1, POMT2
4transferase activityGO:00167407.9B3GALNT2, FKRP, GMPPB, POMGNT1, POMT1, POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet