MCID: MSC002
MIFTS: 24

Muscular Dystrophy-Dystroglycanopathy malady

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Mental diseases, Metabolic diseases, Rare 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 13 25
 
Cmd Due to Dystroglycanopathy 11

Classifications:



External Ids:

Disease Ontology11 DOID:0050588
ICD1028 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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type c, 312.5
2muscular dystrophy-dystroglycanopathy , type c, 212.5
3muscular dystrophy-dystroglycanopathy , type c, 1212.5
4muscular dystrophy-dystroglycanopathy , type c, 912.5
5muscular dystrophy-dystroglycanopathy , type c, 512.5
6muscular dystrophy-dystroglycanopathy , type c, 112.5
7muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1112.5
8muscular dystrophy-dystroglycanopathy , type c, 1412.5
9muscular dystrophy-dystroglycanopathy , type c, 412.5
10muscular dystrophy-dystroglycanopathy , type b, 112.4
11muscular dystrophy-dystroglycanopathy , type a, 112.4
12muscular dystrophy-dystroglycanopathy , type a, 912.4
13muscular dystrophy-dystroglycanopathy , type a, 712.4
14muscular dystrophy-dystroglycanopathy , type a, 1212.4
15muscular dystrophy-dystroglycanopathy , type a, 1012.4
16muscular dystrophy-dystroglycanopathy , type a, 212.4
17muscular dystrophy-dystroglycanopathy , type a, 512.4
18muscular dystrophy-dystroglycanopathy , type a, 612.4
19muscular dystrophy-dystroglycanopathy , type b, 312.4
20muscular dystrophy-dystroglycanopathy , type b, 412.4
21muscular dystrophy-dystroglycanopathy , type b, 212.4
22muscular dystrophy-dystroglycanopathy , type b, 512.4
23muscular dystrophy-dystroglycanopathy , type b, 612.4
24muscular dystrophy-dystroglycanopathy , type c, 712.4
25muscular dystrophy-dystroglycanopathy , type a, 312.4
26muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 812.4
27muscular dystrophy-dystroglycanopathy , type a, 412.4
28muscular dystrophy-dystroglycanopathy , type a, 1312.4
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 1012.3
32congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1212.3
33congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1312.2
34congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1412.2
35gtdc2-related muscle diseases11.4
36dag1-related muscle diseases11.4
37ispd-related muscle diseases11.3
38epilepsy10.2
39muscular dystrophy10.2
40proliferating trichilemmal cyst9.9FKRP, POMT2
41median arcuate ligament syndrome9.9FKRP, POMT2
42muscular dystrophy, congenital9.8FKRP, POMT2
43hyperphosphatemia9.6FKRP, TMEM5
44finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome9.4FKRP, GMPPB, POMT2
45intellectual disability-seizures-macrocephaly-obesity syndrome9.3FKRP, GMPPB, POMT2
46colon cancer, advanced somatic8.7B3GALNT2, FKRP, POMT2, TMEM5
47asphyxiating thoracic dystrophy8.2B3GALNT2, FKRP, GMPPB, POMT2, TMEM5
48medial medullary syndrome8.2B3GALNT2, FKRP, GMPPB, POMT2, TMEM5
49nonsyndromic deafness8.1B3GALNT2, 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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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy:

id Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy25

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy

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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:00001398.8B3GALNT2, FKRP, TMEM5

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

idNameGO IDScoreTop Affiliating Genes
1protein O-linked glycosylationGO:00064939.1B3GALNT2, POMT2
2protein O-linked mannosylationGO:00352698.5FKRP, POMT2, TMEM5

Sources for Muscular Dystrophy-Dystroglycanopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet