MCID: MSC002
MIFTS: 23

Muscular Dystrophy-Dystroglycanopathy malady

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy

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Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy:

Name: Muscular Dystrophy-Dystroglycanopathy 10 12 24
 
Cmd Due to Dystroglycanopathy 10

Classifications:



External Ids:

Disease Ontology10 DOID:0050588
ICD1027 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). Affiliated tissues include eye and brain.

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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type c, 312.5
2muscular dystrophy-dystroglycanopathy , type c, 212.5
3muscular dystrophy-dystroglycanopathy , type c, 912.5
4muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1112.5
5muscular dystrophy-dystroglycanopathy , type c, 1412.5
6muscular dystrophy-dystroglycanopathy , type c, 1212.5
7muscular dystrophy-dystroglycanopathy , type c, 112.5
8muscular dystrophy-dystroglycanopathy , type c, 512.5
9muscular dystrophy-dystroglycanopathy , type c, 412.5
10muscular dystrophy-dystroglycanopathy , type b, 112.5
11muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 812.4
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 b, 312.4
19muscular dystrophy-dystroglycanopathy , type b, 412.4
20muscular dystrophy-dystroglycanopathy , type b, 212.4
21muscular dystrophy-dystroglycanopathy , type c, 712.4
22muscular dystrophy-dystroglycanopathy , type a, 312.4
23muscular dystrophy-dystroglycanopathy , type a, 912.4
24muscular dystrophy-dystroglycanopathy , type a, 1312.4
25muscular dystrophy-dystroglycanopathy , type b, 1412.4
26muscular dystrophy-dystroglycanopathy , type b, 512.4
27muscular dystrophy-dystroglycanopathy , type b, 612.4
28muscular dystrophy-dystroglycanopathy , type a, 1412.4
29muscular dystrophy-dystroglycanopathy , type a, 112.4
30muscular dystrophy-dystroglycanopathy , type a, 412.4
31congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1012.3
32congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1212.3
33congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1312.3
34congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1412.2
35congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability12.2
36dag1-related muscle diseases11.4
37gtdc2-related muscle diseases11.3
38ispd-related muscle diseases11.3
39congenital muscular dystrophy due to dystroglycanopathy11.2
40muscular dystrophy10.2
41progressive non-fluent aphasia9.9FKRP, POMT2
42periventricular nodular heterotopia9.9FKRP, TMEM5
43muscular dystrophy, congenital9.6FKRP, POMT2
44autism spectrum disorder-epilepsy-arthrogryposis syndrome9.4FKRP, GMPPB, POMT2
45congenital muscular dystrophy without intellectual disability9.4FKRP, GMPPB, POMT2
46alternating esotropia9.2FKRP, GMPPB, POMT2
47col12a1-related muscle diseases8.7B3GALNT2, FKRP, POMT2, TMEM5
48tooth agenesis8.2B3GALNT2, FKRP, GMPPB, POMT2, TMEM5
49muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus8.2B3GALNT2, FKRP, GMPPB, POMT2, TMEM5
50lennox-gastaut syndrome8.2B3GALNT2, FKRP, GMPPB, POMT2, 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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy

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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy:

33
Eye, Brain

Animal Models for Muscular Dystrophy-Dystroglycanopathy or affiliated genes

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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:00001399.0FKRP, TMEM5
2integral component of membraneGO:00160218.6B3GALNT2, POMT2, TMEM5

Sources for Muscular Dystrophy-Dystroglycanopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet