MCID: MSC002
MIFTS: 30

Muscular Dystrophy-Dystroglycanopathy

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

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy, also known as dystrophy, muscular, dystroglycanopathy, is related to muscular dystrophy-dystroglycanopathy , type c, 4 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, 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 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

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 4 34.3 FKRP POMT2
2 muscular dystrophy-dystroglycanopathy , type c, 3 33.9 GMPPB POMGNT1
3 muscular dystrophy-dystroglycanopathy , type a, 1 33.8 FKRP POMT1 POMT2
4 muscular dystrophy-dystroglycanopathy , type c, 14 33.7 GMPPB ISPD
5 muscular dystrophy-dystroglycanopathy , type c, 2 33.7 GMPPB POMT1 POMT2
6 muscular dystrophy-dystroglycanopathy , type c, 1 33.7 GMPPB POMT1 POMT2
7 muscular dystrophy-dystroglycanopathy , type c, 7 33.6 GMPPB ISPD
8 muscular dystrophy-dystroglycanopathy , type c, 5 33.3 FKRP POMGNT2
9 muscular dystrophy-dystroglycanopathy , type b, 6 33.1 FKRP POMGNT1 POMT1 POMT2
10 muscular dystrophy-dystroglycanopathy , type b, 5 31.6 FKRP POMGNT1 POMGNT2 POMT1 POMT2
11 muscular dystrophy-dystroglycanopathy , type a, 4 31.6 FKRP POMGNT1 POMGNT2 POMT1 POMT2
12 congenital muscular dystrophy without intellectual disability 31.3 FKRP ISPD POMT1
13 limb-girdle muscular dystrophy 30.1 FKRP POMGNT1 POMT1
14 muscular dystrophy, congenital, lmna-related 29.9 FKRP POMGNT1 POMT1
15 muscle eye brain disease 28.9 FKRP GMPPB POMGNT1 POMGNT2 POMT1 POMT2
16 walker-warburg syndrome 27.0 FKRP GMPPB ISPD POMGNT1 POMGNT2 POMT1
17 muscular dystrophy 25.5 FKRP GMPPB ISPD POMGNT1 POMGNT2 POMT1
18 muscular dystrophy-dystroglycanopathy , type c, 9 12.6
19 muscular dystrophy-dystroglycanopathy , type b, 1 12.6
20 muscular dystrophy-dystroglycanopathy , type a, 8 12.6
21 muscular dystrophy-dystroglycanopathy , type a, 11 12.6
22 muscular dystrophy-dystroglycanopathy , type a, 2 12.6
23 muscular dystrophy-dystroglycanopathy , type a, 5 12.6
24 muscular dystrophy-dystroglycanopathy , type a, 6 12.6
25 muscular dystrophy-dystroglycanopathy , type a, 7 12.6
26 muscular dystrophy-dystroglycanopathy , type a, 10 12.6
27 muscular dystrophy-dystroglycanopathy , type a, 12 12.6
28 muscular dystrophy-dystroglycanopathy , type a, 3 12.6
29 muscular dystrophy-dystroglycanopathy , type a, 13 12.6
30 muscular dystrophy-dystroglycanopathy , type a, 9 12.6
31 muscular dystrophy-dystroglycanopathy , type b, 3 12.6
32 muscular dystrophy-dystroglycanopathy , type b, 4 12.6
33 muscular dystrophy-dystroglycanopathy , type b, 2 12.6
34 muscular dystrophy-dystroglycanopathy , type c, 12 12.6
35 muscular dystrophy-dystroglycanopathy , type b, 14 12.5
36 muscular dystrophy-dystroglycanopathy , type a, 14 12.5
37 congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability 12.2
38 congenital muscular dystrophy due to dystroglycanopathy 11.2
39 epilepsy 10.1
40 retinitis 10.1
41 autosomal recessive limb-girdle muscular dystrophy 10.1 FKRP POMT1
42 muscular dystrophy, limb-girdle, type 1e 10.0 FKRP GMPPB
43 congenital nervous system abnormality 10.0 POMGNT1 POMT1
44 muscular dystrophy, limb-girdle, type 2l 9.9 FKRP POMT1 POMT2
45 ablepharon-macrostomia syndrome 9.8 FKRP POMGNT1 POMT1
46 lissencephaly 9.5 FKRP RXYLT1
47 bethlem myopathy 1 9.5 GMPPB ISPD
48 congenital muscular dystrophy with intellectual disability 9.4 FKRP GMPPB POMT1 POMT2
49 congenital muscular dystrophy with cerebellar involvement 8.9 FKRP GMPPB POMGNT1 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:

# 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:

# 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
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. ( 27874200 )
2017
4
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. ( 28157257 )
2017
5
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
# 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.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
3 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
4 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh38 Chromosome 19, 46756936: 46756936
5 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397509425 GRCh37 Chromosome 3, 49760037: 49760037
6 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397509425 GRCh38 Chromosome 3, 49722604: 49722604
7 ISPD NM_001101426.3(ISPD): c.165dup (p.Cys56Valfs) duplication Pathogenic GRCh38 Chromosome 7, 16421158: 16421158
8 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
13.39 FKRP GMPPB ISPD POMGNT1 POMGNT2 POMT1
2
Show member pathways
13.15 GMPPB POMGNT1 POMGNT2 POMT1 POMT2
3
Show member pathways
11.52 POMGNT1 POMGNT2 POMT1 POMT2
4 10.6 POMT1 POMT2
5 10.53 FKRP ISPD POMGNT1 POMGNT2 POMT1 POMT2

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 endoplasmic reticulum GO:0005783 8.92 FKRP POMGNT2 POMT1 POMT2

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 9.5 FKRP ISPD POMGNT1 POMGNT2 POMT1 POMT2
2 protein O-linked glycosylation GO:0006493 9.46 POMGNT1 POMGNT2 POMT1 POMT2
3 mannosylation GO:0097502 9.37 POMT1 POMT2
4 ER-associated misfolded protein catabolic process GO:0071712 9.32 POMT1 POMT2
5 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT1 POMT2
6 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 acetylglucosaminyltransferase activity GO:0008375 9.32 POMGNT1 POMGNT2
3 mannosyltransferase activity GO:0000030 9.26 POMT1 POMT2
4 transferase activity, transferring glycosyl groups GO:0016757 9.26 POMGNT1 POMGNT2 POMT1 POMT2
5 transferase activity GO:0016740 9.23 FKRP GMPPB ISPD POMGNT1 POMGNT2 POMT1
6 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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