MCID: MSC002
MIFTS: 22

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.

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 51)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type c, 312.9
2muscular dystrophy-dystroglycanopathy , type c, 212.9
3muscular dystrophy-dystroglycanopathy , type c, 912.9
4muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1112.9
5muscular dystrophy-dystroglycanopathy , type c, 1412.9
6muscular dystrophy-dystroglycanopathy , type c, 1212.9
7muscular dystrophy-dystroglycanopathy , type c, 112.9
8muscular dystrophy-dystroglycanopathy , type c, 512.9
9muscular dystrophy-dystroglycanopathy , type c, 412.9
10muscular dystrophy-dystroglycanopathy , type b, 112.9
11muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 812.8
12muscular dystrophy-dystroglycanopathy , type a, 712.8
13muscular dystrophy-dystroglycanopathy , type a, 1212.8
14muscular dystrophy-dystroglycanopathy , type a, 1012.8
15muscular dystrophy-dystroglycanopathy , type a, 212.8
16muscular dystrophy-dystroglycanopathy , type a, 512.8
17muscular dystrophy-dystroglycanopathy , type a, 612.8
18muscular dystrophy-dystroglycanopathy , type b, 312.8
19muscular dystrophy-dystroglycanopathy , type b, 412.8
20muscular dystrophy-dystroglycanopathy , type b, 212.8
21muscular dystrophy-dystroglycanopathy , type c, 712.8
22muscular dystrophy-dystroglycanopathy , type a, 312.8
23muscular dystrophy-dystroglycanopathy , type a, 912.8
24muscular dystrophy-dystroglycanopathy , type a, 1312.8
25muscular dystrophy-dystroglycanopathy , type b, 1412.8
26muscular dystrophy-dystroglycanopathy , type b, 512.8
27muscular dystrophy-dystroglycanopathy , type b, 612.8
28muscular dystrophy-dystroglycanopathy , type a, 1412.8
29muscular dystrophy-dystroglycanopathy , type a, 112.8
30muscular dystrophy-dystroglycanopathy , type a, 412.8
31congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1012.7
32congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1212.7
33congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1312.7
34congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1412.6
35congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability12.6
36dag1-related muscle diseases11.8
37gtdc2-related muscle diseases11.7
38ispd-related muscle diseases11.7
39congenital muscular dystrophy due to dystroglycanopathy11.6
40lichen planus10.4
41lichen planus pemphigoides10.4
42progressive non-fluent aphasia9.9FKRP, POMT2
43periventricular nodular heterotopia9.9FKRP, TMEM5
44muscular dystrophy, congenital9.7FKRP, POMT2
45autism spectrum disorder-epilepsy-arthrogryposis syndrome9.6FKRP, GMPPB, POMT2
46congenital muscular dystrophy without intellectual disability9.6FKRP, GMPPB, POMT2
47alternating esotropia9.5FKRP, GMPPB, POMT2
48col12a1-related muscle diseases9.2B3GALNT2, FKRP, POMT2, TMEM5
49tooth agenesis8.8B3GALNT2, FKRP, GMPPB, POMT2, TMEM5
50muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus8.8B3GALNT2, 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

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
Induction and endoplasmic reticulum location of BIK/NBK in response to apoptotic signaling by E1A and p53. (11971188)
2002

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