MCID: MSC002
MIFTS: 23

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, 3 and muscular dystrophy-dystroglycanopathy , type c, 2. An important gene associated with Muscular Dystrophy-Dystroglycanopathy is GMPPB (GDP-Mannose Pyrophosphorylase B).

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 53)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type c, 312.5
2muscular dystrophy-dystroglycanopathy , type c, 212.5
3muscular dystrophy-dystroglycanopathy , type c, 112.5
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 a, 112.5
10muscular dystrophy-dystroglycanopathy , type a, 712.5
11muscular dystrophy-dystroglycanopathy , type a, 1212.5
12muscular dystrophy-dystroglycanopathy , type a, 1012.5
13muscular dystrophy-dystroglycanopathy , type a, 212.5
14muscular dystrophy-dystroglycanopathy , type a, 512.5
15muscular dystrophy-dystroglycanopathy , type a, 612.5
16muscular dystrophy-dystroglycanopathy , type a, 312.4
17muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 812.4
18muscular dystrophy-dystroglycanopathy , type a, 912.4
19muscular dystrophy-dystroglycanopathy , type a, 1312.4
20muscular dystrophy-dystroglycanopathy , type b, 312.4
21muscular dystrophy-dystroglycanopathy , type b, 412.4
22muscular dystrophy-dystroglycanopathy , type b, 212.4
23muscular dystrophy-dystroglycanopathy , type c, 1212.4
24muscular dystrophy-dystroglycanopathy , type c, 412.4
25muscular dystrophy-dystroglycanopathy , type a, 412.4
26muscular dystrophy-dystroglycanopathy , type c, 712.4
27muscular dystrophy-dystroglycanopathy , type b, 1412.4
28muscular dystrophy-dystroglycanopathy , type b, 512.4
29muscular dystrophy-dystroglycanopathy , type b, 612.4
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
40ispd-related muscle diseases11.2
41congenital muscular dystrophy due to dystroglycanopathy11.1
42muscle eye brain disease11.1
43epilepsy10.1
44muscular dystrophy10.1
45proliferating trichilemmal cyst9.9FKRP, POMT2
46median arcuate ligament syndrome9.9FKRP, POMT2
47muscular dystrophy, congenital9.8FKRP, POMT2
48hyperphosphatemia9.6FKRP, TMEM5
49finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome9.4FKRP, GMPPB, POMT2
50intellectual disability-seizures-macrocephaly-obesity syndrome9.4FKRP, GMPPB, POMT2

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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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
1Golgi membraneGO:00001398.6B3GALNT2, FKRP, TMEM5

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

idNameGO IDScoreTop Affiliating Genes
1protein O-linked glycosylationGO:00064939.6B3GALNT2, POMT2
2protein O-linked mannosylationGO:00352698.5FKRP, POMT2, TMEM5

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