MCID: MSC002
MIFTS: 29

Muscular Dystrophy-Dystroglycanopathy

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy:

Name: Muscular Dystrophy-Dystroglycanopathy 12 29 14
Cmd Due to Dystroglycanopathy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050588
ICD10 33 G71.2

Summaries for Muscular Dystrophy-Dystroglycanopathy

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy, also known as cmd due to dystroglycanopathy, is related to muscular dystrophy-dystroglycanopathy , type b, 1 and muscular dystrophy-dystroglycanopathy , type c, 3. An important gene associated with Muscular Dystrophy-Dystroglycanopathy is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Metabolism and Metabolism of proteins.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy

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)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type b, 1 33.8 POMGNT1 POMT1
2 muscular dystrophy-dystroglycanopathy , type c, 3 33.2 GMPPB POMGNT1
3 muscular dystrophy-dystroglycanopathy , type b, 14 32.9 GMPPB ISPD
4 muscular dystrophy-dystroglycanopathy , type b, 4 32.7 FKRP POMGNT1 POMT1 POMT2
5 muscular dystrophy-dystroglycanopathy , type c, 2 12.5
6 muscular dystrophy-dystroglycanopathy , type c, 9 12.5
7 muscular dystrophy-dystroglycanopathy , type c, 1 12.5
8 muscular dystrophy-dystroglycanopathy , type c, 14 12.5
9 muscular dystrophy-dystroglycanopathy , type c, 5 12.5
10 muscular dystrophy-dystroglycanopathy , type b, 5 12.5
11 muscular dystrophy-dystroglycanopathy , type b, 6 12.5
12 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 12.5
13 muscular dystrophy-dystroglycanopathy , type a, 2 12.4
14 muscular dystrophy-dystroglycanopathy , type a, 9 12.4
15 muscular dystrophy-dystroglycanopathy , type a, 5 12.4
16 muscular dystrophy-dystroglycanopathy , type a, 7 12.4
17 muscular dystrophy-dystroglycanopathy , type a, 12 12.4
18 muscular dystrophy-dystroglycanopathy , type a, 6 12.4
19 muscular dystrophy-dystroglycanopathy , type a, 4 12.4
20 muscular dystrophy-dystroglycanopathy , type a, 10 12.4
21 muscular dystrophy-dystroglycanopathy , type c, 4 12.4
22 muscular dystrophy-dystroglycanopathy , type c, 12 12.4
23 muscular dystrophy-dystroglycanopathy , type a, 3 12.4
24 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 12.4
25 muscular dystrophy-dystroglycanopathy , type a, 13 12.4
26 muscular dystrophy-dystroglycanopathy , type b, 2 12.4
27 muscular dystrophy-dystroglycanopathy , type b, 3 12.4
28 muscular dystrophy-dystroglycanopathy , type a, 1 12.4
29 muscular dystrophy-dystroglycanopathy , type c, 7 12.4
30 muscular dystrophy-dystroglycanopathy , type a, 14 12.4
31 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 12 12.1
32 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 13 12.1
33 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 10 12.1
34 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 14 12.0
35 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 6 12.0
36 congenital muscular dystrophy-dystroglycanopathy with mental retardation type b 6 12.0
37 congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability 12.0
38 gtdc2-related muscle diseases 11.2
39 dag1-related muscle diseases 11.2
40 walker-warburg syndrome 11.2
41 congenital muscular dystrophy due to dystroglycanopathy 11.1
42 ispd-related muscle diseases 11.1
43 muscle eye brain disease 11.1
44 muscular dystrophy 10.3
45 hirschsprung disease 5 10.1 FKRP POMT2
46 epilepsy 10.1
47 limb-girdle muscular dystrophy 10.1
48 angiodysplasia 9.9 POMGNT1 POMT1
49 coronary artery disease 9.8 FKRP POMGNT1 POMT1
50 miyoshi muscular dystrophy 3 9.7 FKRP POMT1 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

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy:

id Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy 29

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy

Publications for Muscular Dystrophy-Dystroglycanopathy

Articles related to Muscular Dystrophy-Dystroglycanopathy:

id Title Authors Year
1
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. ( 27874200 )
2017
2
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. ( 28157257 )
2017
3
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. ( 23109149 )
2012

Variations for Muscular Dystrophy-Dystroglycanopathy

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
2 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
3 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397509425 GRCh37 Chromosome 3, 49760037: 49760037
4 GMPPB NM_013334.3(GMPPB): c.1069G> A (p.Val357Ile) single nucleotide variant Pathogenic/Likely pathogenic rs199922550 GRCh37 Chromosome 3, 49759280: 49759280
5 ISPD NM_001101426.3(ISPD): c.165dup (p.Cys56Valfs) duplication Pathogenic GRCh38 Chromosome 7, 16421158: 16421158

Expression for Muscular Dystrophy-Dystroglycanopathy

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy.

Pathways for Muscular Dystrophy-Dystroglycanopathy

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 B3GALNT2 FKRP GMPPB ISPD POMGNT1 POMT1
2
Show member pathways
13.15 B3GALNT2 GMPPB POMGNT1 POMT1 POMT2
3
Show member pathways
11.52 B3GALNT2 POMGNT1 POMT1 POMT2
4 10.6 POMT1 POMT2
5 10.46 B3GALNT2 FKRP ISPD POMGNT1 POMT1 POMT2

GO Terms for Muscular Dystrophy-Dystroglycanopathy

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

id Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.13 B3GALNT2 FKRP POMGNT1
2 endoplasmic reticulum GO:0005783 8.92 B3GALNT2 FKRP POMT1 POMT2

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

id Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.46 B3GALNT2 POMGNT1 POMT1 POMT2
2 mannosylation GO:0097502 9.37 POMT1 POMT2
3 ER-associated misfolded protein catabolic process GO:0071712 9.32 POMT1 POMT2
4 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT1 POMT2
5 protein O-linked mannosylation GO:0035269 9.26 FKRP ISPD POMT1 POMT2
6 protein glycosylation GO:0006486 9.1 B3GALNT2 FKRP ISPD POMGNT1 POMT1 POMT2

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

id Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 9.32 GMPPB ISPD
2 acetylglucosaminyltransferase activity GO:0008375 9.26 B3GALNT2 POMGNT1
3 transferase activity, transferring glycosyl groups GO:0016757 9.26 B3GALNT2 POMGNT1 POMT1 POMT2
4 transferase activity GO:0016740 9.17 B3GALNT2 FKRP GMPPB ISPD POMGNT1 POMT1
5 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT1 POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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