MCID: MSC002
MIFTS: 34

Muscular Dystrophy-Dystroglycanopathy

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy:

Name: Muscular Dystrophy-Dystroglycanopathy 12 29 6 15
Dystrophy, Muscular, Dystroglycanopathy 40
Cmd Due to Dystroglycanopathy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050588
ICD10 33 G71.2

Summaries for Muscular Dystrophy-Dystroglycanopathy

Disease Ontology : 12 A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has material basis in mutation to the POMT1 gene that encodes O-mannosyltransferase.

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy, also known as dystrophy, muscular, dystroglycanopathy, is related to muscular dystrophy-dystroglycanopathy , type c, 2 and muscular dystrophy-dystroglycanopathy , type c, 1. An important gene associated with Muscular Dystrophy-Dystroglycanopathy is GMPPB (GDP-Mannose Pyrophosphorylase B), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include brain and eye, and related phenotype is nervous system.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8

Diseases related to Muscular Dystrophy-Dystroglycanopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 2 34.4 POMT1 POMT2
2 muscular dystrophy-dystroglycanopathy , type c, 1 34.4 POMT1 POMT2
3 muscular dystrophy-dystroglycanopathy , type c, 9 34.3 DAG1 GMPPB
4 muscular dystrophy-dystroglycanopathy , type c, 14 34.2 GMPPB ISPD
5 muscular dystrophy-dystroglycanopathy , type c, 7 34.1 GMPPB ISPD
6 muscular dystrophy-dystroglycanopathy , type c, 4 34.1 FKRP POMT1 POMT2
7 muscular dystrophy-dystroglycanopathy , type c, 5 34.0 FKRP POMGNT2
8 muscular dystrophy-dystroglycanopathy , type b, 6 33.8 DAG1 FKRP POMGNT1 POMT1 POMT2
9 muscular dystrophy-dystroglycanopathy , type b, 5 33.4 DAG1 FKRP POMGNT1 POMGNT2 POMT1 POMT2
10 muscular dystrophy-dystroglycanopathy , type a, 4 33.4 DAG1 FKRP POMGNT1 POMGNT2 POMT1 POMT2
11 muscular dystrophy-dystroglycanopathy , type a, 1 33.4 DAG1 FKRP POMGNT1 POMGNT2 POMT1 POMT2
12 congenital muscular dystrophy without intellectual disability 31.9 FKRP ISPD POMT1
13 limb-girdle muscular dystrophy 30.6 FKRP POMGNT1 POMT1
14 walker-warburg syndrome 30.4 B3GALNT2 DAG1 FKRP GMPPB ISPD POMGNT1
15 muscle eye brain disease 30.3 B3GALNT2 DAG1 FKRP GMPPB ISPD POMGNT1
16 muscular dystrophy, congenital, lmna-related 29.2 B3GALNT2 DAG1 FKRP POMGNT1 POMGNT2 POMT1
17 muscular dystrophy 29.1 B3GALNT2 DAG1 FKRP GMPPB ISPD POMGNT1
18 muscular dystrophy-dystroglycanopathy , type c, 3 12.8
19 muscular dystrophy-dystroglycanopathy , type b, 1 12.8
20 muscular dystrophy-dystroglycanopathy , type a, 8 12.8
21 muscular dystrophy-dystroglycanopathy , type a, 11 12.8
22 muscular dystrophy-dystroglycanopathy , type a, 2 12.7
23 muscular dystrophy-dystroglycanopathy , type a, 5 12.7
24 muscular dystrophy-dystroglycanopathy , type a, 6 12.7
25 muscular dystrophy-dystroglycanopathy , type a, 7 12.7
26 muscular dystrophy-dystroglycanopathy , type a, 10 12.7
27 muscular dystrophy-dystroglycanopathy , type a, 12 12.7
28 muscular dystrophy-dystroglycanopathy , type a, 3 12.7
29 muscular dystrophy-dystroglycanopathy , type a, 13 12.7
30 muscular dystrophy-dystroglycanopathy , type b, 3 12.7
31 muscular dystrophy-dystroglycanopathy , type b, 4 12.7
32 muscular dystrophy-dystroglycanopathy , type b, 2 12.7
33 muscular dystrophy-dystroglycanopathy , type a, 9 12.7
34 muscular dystrophy-dystroglycanopathy , type b, 14 12.7
35 muscular dystrophy-dystroglycanopathy , type c, 12 12.7
36 muscular dystrophy-dystroglycanopathy , type a, 14 12.7
37 muscular dystrophy-dystroglycanopathy , type c, 8 12.6
38 muscular dystrophy-dystroglycanopathy , type c, 15 12.4
39 congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability 12.3
40 congenital muscular dystrophy due to dystroglycanopathy 11.4
41 alacrima, achalasia, and mental retardation syndrome 10.3
42 epilepsy 10.3
43 autosomal recessive limb-girdle muscular dystrophy 10.1 FKRP POMT1
44 glaucoma 3, primary congenital, a 10.1 POMT1 POMT2
45 muscular dystrophy, congenital, 1b 10.1 DAG1 FKRP
46 autosomal recessive limb-girdle muscular dystrophy type 2w 10.0 GMPPB ISPD
47 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 FKRP POMT1 POMT2
48 congenital nervous system abnormality 10.0 POMGNT1 POMT1
49 ablepharon-macrostomia syndrome 10.0 FKRP POMGNT1 POMT1
50 muscular dystrophy, congenital merosin-deficient, 1a 9.9 B3GALNT2 DAG1

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy:



Diseases related to Muscular Dystrophy-Dystroglycanopathy

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.17 DAG1 FKRP ISPD POMGNT1 POMGNT2 POMT1

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:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy 29

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy:

41
Brain, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy

Articles related to Muscular Dystrophy-Dystroglycanopathy:

# Title Authors Year
1
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. ( 29910097 )
2018
2
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. ( 29555514 )
2018
3
Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy. ( 30450679 )
2018
4
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. ( 27874200 )
2017
5
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. ( 28157257 )
2017
6
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 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
2 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh38 Chromosome 19, 46756936: 46756936
3 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
4 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
5 ISPD NM_001101426.3(ISPD): c.277_279delATT (p.Ile93del) deletion Conflicting interpretations of pathogenicity rs397515398 GRCh37 Chromosome 7, 16445941: 16445943
6 ISPD NM_001101426.3(ISPD): c.277_279delATT (p.Ile93del) deletion Conflicting interpretations of pathogenicity rs397515398 GRCh38 Chromosome 7, 16406316: 16406318
7 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397509425 GRCh37 Chromosome 3, 49760037: 49760037
8 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397509425 GRCh38 Chromosome 3, 49722604: 49722604
9 GMPPB NM_013334.3(GMPPB): c.1069G> A (p.Val357Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199922550 GRCh37 Chromosome 3, 49759280: 49759280
10 GMPPB NM_013334.3(GMPPB): c.1069G> A (p.Val357Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199922550 GRCh38 Chromosome 3, 49721847: 49721847
11 ISPD NM_001101426.3(ISPD): c.165dup (p.Cys56Valfs) duplication Pathogenic GRCh38 Chromosome 7, 16421158: 16421158
12 ISPD NM_001101426.3(ISPD): c.165dup (p.Cys56Valfs) duplication Pathogenic GRCh37 Chromosome 7, 16460783: 16460783

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 B3GALNT2 FKRP GMPPB ISPD POMGNT1 POMGNT2
2
Show member pathways
13.23 B3GALNT2 DAG1 GMPPB POMGNT1 POMGNT2 POMT1
3
Show member pathways
11.7 B3GALNT2 DAG1 POMGNT1 POMGNT2 POMT1 POMT2
4 10.66 POMT1 POMT2
5 10.59 B3GALNT2 FKRP ISPD POMGNT1 POMGNT2 POMT1

GO Terms for Muscular Dystrophy-Dystroglycanopathy

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.86 B3GALNT2 DAG1 FKRP POMGNT1 POMGNT2 POMT1
2 endoplasmic reticulum membrane GO:0005789 9.62 B3GALNT2 POMGNT2 POMT1 POMT2
3 endoplasmic reticulum GO:0005783 9.55 B3GALNT2 FKRP POMGNT2 POMT1 POMT2
4 Golgi membrane GO:0000139 9.26 B3GALNT2 FKRP POMGNT1 RXYLT1
5 dystrophin-associated glycoprotein complex GO:0016010 8.62 DAG1 FKRP

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

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.56 B3GALNT2 FKRP ISPD POMGNT1 POMGNT2 POMT1
2 protein O-linked glycosylation GO:0006493 9.55 B3GALNT2 POMGNT1 POMGNT2 POMT1 POMT2
3 mannosylation GO:0097502 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 9.1 FKRP ISPD POMGNT2 POMT1 POMT2 RXYLT1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 9.37 GMPPB ISPD
2 transferase activity, transferring glycosyl groups GO:0016757 9.35 B3GALNT2 POMGNT1 POMGNT2 POMT1 POMT2
3 acetylglucosaminyltransferase activity GO:0008375 9.33 B3GALNT2 POMGNT1 POMGNT2
4 dystroglycan binding GO:0002162 9.32 DAG1 FKRP
5 transferase activity GO:0016740 9.28 B3GALNT2 FKRP GMPPB ISPD POMGNT1 POMGNT2
6 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.26 POMT1 POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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44 MeSH
45 MESH via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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