MCID: MSC002
MIFTS: 35

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 39
Cmd Due to Dystroglycanopathy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050588
ICD10 32 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, 9 and muscular dystrophy-dystroglycanopathy , type a, 8. 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. Affiliated tissues include brain and eye, and related phenotypes are behavior/neurological and mortality/aging

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
Congenital Muscular Dystrophy-Dystroglycanopathy Type a Congenital Muscular Dystrophy-Dystroglycanopathy Type A11
Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9
Congenital Muscular Dystrophy-Dystroglycanopathy A14 Congenital Muscular Dystrophy-Dystroglycanopathy A7
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

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

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 9 35.0 GMPPB DAG1
2 muscular dystrophy-dystroglycanopathy , type a, 8 35.0 POMGNT2 CRPPA
3 muscular dystrophy-dystroglycanopathy , type c, 7 34.7 RXYLT1 GMPPB CRPPA
4 muscular dystrophy-dystroglycanopathy , type c, 5 34.2 POMT2 POMT1 POMGNT2 POMGNT1 FKTN FKRP
5 muscular dystrophy-dystroglycanopathy , type c, 4 34.0 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
6 muscular dystrophy-dystroglycanopathy , type c, 2 33.9 POMT2 POMT1 POMGNT1 GMPPB FKTN FKRP
7 muscular dystrophy-dystroglycanopathy , type a, 1 33.7 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 FKTN
8 muscular dystrophy-dystroglycanopathy , type c, 1 33.7 POMT2 POMT1 POMGNT1 GMPPB FKTN FKRP
9 muscular dystrophy-dystroglycanopathy , type c, 3 33.4 RXYLT1 POMT2 POMT1 POMGNT1 GMPPB FKTN
10 muscular dystrophy-dystroglycanopathy , type b, 5 32.5 POMT2 POMT1 POMK POMGNT2 POMGNT1 GMPPB
11 congenital muscular dystrophy without intellectual disability 32.5 POMT1 FKTN FKRP CRPPA
12 muscular dystrophy-dystroglycanopathy , type b, 6 32.4 RXYLT1 POMT2 POMT1 POMK POMGNT1 LARGE1
13 congenital muscular dystrophy due to dystroglycanopathy 31.7 GMPPB FKRP CRPPA
14 muscular dystrophy-dystroglycanopathy , type a, 4 31.3 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
15 limb-girdle muscular dystrophy 31.1 POMT1 POMGNT2 POMGNT1 FKTN FKRP
16 muscle eye brain disease 30.5 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
17 walker-warburg syndrome 30.3 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
18 microcephaly 30.0 TBCE POMT1 POMGNT1 GMPPB FKTN DAG1
19 lissencephaly 28.9 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
20 muscular dystrophy 28.4 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
21 muscular dystrophy, congenital, lmna-related 28.1 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
22 muscular dystrophy-dystroglycanopathy , type c, 14 13.0
23 muscular dystrophy-dystroglycanopathy , type a, 3 13.0
24 muscular dystrophy-dystroglycanopathy , type c, 12 13.0
25 muscular dystrophy-dystroglycanopathy , type a, 11 12.9
26 muscular dystrophy-dystroglycanopathy , type b, 1 12.9
27 muscular dystrophy-dystroglycanopathy , type a, 10 12.9
28 muscular dystrophy-dystroglycanopathy , type a, 12 12.9
29 muscular dystrophy-dystroglycanopathy , type a, 13 12.9
30 muscular dystrophy-dystroglycanopathy , type b, 3 12.9
31 muscular dystrophy-dystroglycanopathy , type b, 4 12.9
32 muscular dystrophy-dystroglycanopathy , type b, 2 12.9
33 muscular dystrophy-dystroglycanopathy , type c, 8 12.9
34 muscular dystrophy-dystroglycanopathy , type a, 2 12.9
35 muscular dystrophy-dystroglycanopathy , type a, 5 12.9
36 muscular dystrophy-dystroglycanopathy , type a, 6 12.9
37 muscular dystrophy-dystroglycanopathy , type a, 7 12.9
38 muscular dystrophy-dystroglycanopathy , type a, 9 12.9
39 muscular dystrophy-dystroglycanopathy , type b, 14 12.9
40 muscular dystrophy-dystroglycanopathy , type a, 14 12.8
41 muscular dystrophy-dystroglycanopathy , type c, 15 12.8
42 congenital muscular dystrophy-dystroglycanopathy type a 12.8
43 congenital muscular dystrophy-dystroglycanopathy a7 12.8
44 congenital muscular dystrophy-dystroglycanopathy type a2 12.8
45 congenital muscular dystrophy-dystroglycanopathy type a5 12.8
46 congenital muscular dystrophy-dystroglycanopathy type a6 12.8
47 congenital muscular dystrophy-dystroglycanopathy type a3 12.8
48 congenital muscular dystrophy-dystroglycanopathy type a11 12.7
49 congenital muscular dystrophy-dystroglycanopathy type a8 12.7
50 congenital muscular dystrophy-dystroglycanopathy type a9 12.7

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 B3GNT2 B4GAT1 DAG1 DPM3 FKRP FKTN
2 mortality/aging MP:0010768 10.13 B3GALNT2 B4GAT1 CRPPA DAG1 DPM2 DPM3
3 cellular MP:0005384 10.07 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN
4 growth/size/body region MP:0005378 10.06 B3GALNT2 B3GNT2 B4GAT1 DAG1 FKRP FKTN
5 nervous system MP:0003631 9.77 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN
6 muscle MP:0005369 9.76 B4GAT1 DAG1 FKRP FKTN LARGE1 POMGNT1
7 vision/eye MP:0005391 9.23 DAG1 DPM3 FKRP LARGE1 POMGNT1 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:

40
Brain, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy

Articles related to Muscular Dystrophy-Dystroglycanopathy:

(show all 21)
# Title Authors PMID Year
1
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. 61
31756055 2020
2
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. 61
31833209 2019
3
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB). 61
31580529 2019
4
A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. 61
31741824 2019
5
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene. 61
31266720 2019
6
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. 61
30961548 2019
7
Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy. 61
30450679 2019
8
Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene. 61
30937090 2018
9
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. 61
29910097 2018
10
Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice. 61
29858056 2018
11
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. 61
29555514 2018
12
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. 61
29273094 2017
13
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 61
27874200 2017
14
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. 61
28157257 2017
15
Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene. 61
28480302 2017
16
Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy. 61
29081423 2017
17
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses. 61
26452345 2015
18
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 61
26133662 2015
19
Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid. 61
25552652 2015
20
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. 61
24120487 2013
21
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 61
23109149 2012

Variations for Muscular Dystrophy-Dystroglycanopathy

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)SNV Pathogenic 4221 rs28937900 19:47259533-47259533 19:46756276-46756276
2 CRPPA NM_001101426.4(CRPPA):c.165dup (p.Cys56fs)duplication Pathogenic 435529 rs1554371369 7:16460782-16460783 7:16421157-16421158
3 FKRP NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)SNV Pathogenic/Likely pathogenic 4223 rs104894682 19:47260193-47260193 19:46756936-46756936
4 GMPPB NM_013334.3(GMPPB):c.553C>T (p.Arg185Cys)SNV Pathogenic/Likely pathogenic 60543 rs397509425 3:49760037-49760037 3:49722604-49722604
5 GMPPB NM_013334.3(GMPPB):c.1069G>A (p.Val357Ile)SNV Conflicting interpretations of pathogenicity 60547 rs199922550 3:49759280-49759280 3:49721847-49721847
6 CRPPA NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)deletion Conflicting interpretations of pathogenicity 31564 rs397515398 7:16445941-16445943 7:16406316-16406318

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
13.81 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
2
Show member pathways
13.43 TBCE POMT2 POMT1 POMK POMGNT2 POMGNT1
3
Show member pathways
11.92 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE1
4 10.76 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1

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 membrane GO:0016020 10.34 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
2 Golgi apparatus GO:0005794 9.97 RXYLT1 POMGNT1 LARGE1 FKTN FKRP B4GAT1
3 endoplasmic reticulum membrane GO:0005789 9.95 POMT2 POMT1 POMK POMGNT2 DPM3 DPM2
4 integral component of membrane GO:0016021 9.86 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
5 Golgi membrane GO:0000139 9.8 RXYLT1 POMGNT1 LARGE1 FKRP B4GAT1 B3GNT2
6 integral component of Golgi membrane GO:0030173 9.46 POMGNT1 LARGE1 FKTN B4GAT1
7 dolichol-phosphate-mannose synthase complex GO:0033185 9.32 DPM3 DPM2
8 endoplasmic reticulum GO:0005783 9.32 POMT2 POMT1 POMK POMGNT2 FKTN FKRP

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

# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.85 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE1
2 protein O-linked mannosylation GO:0035269 9.7 RXYLT1 POMT2 POMT1 POMGNT2 LARGE1 FKTN
3 GPI anchor biosynthetic process GO:0006506 9.48 DPM3 DPM2
4 protein glycosylation GO:0006486 9.47 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1
5 keratan sulfate biosynthetic process GO:0018146 9.46 B4GAT1 B3GNT2
6 skeletal muscle tissue regeneration GO:0043403 9.43 LARGE1 DAG1
7 mannosylation GO:0097502 9.4 POMT2 POMT1
8 poly-N-acetyllactosamine biosynthetic process GO:0030311 9.37 B4GAT1 B3GNT2
9 glycoprotein biosynthetic process GO:0009101 9.32 LARGE1 FKRP
10 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.56 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 B4GAT1
2 acetylglucosaminyltransferase activity GO:0008375 9.55 POMGNT2 POMGNT1 LARGE1 B3GNT2 B3GALNT2
3 glucuronosyltransferase activity GO:0015020 9.49 LARGE1 B4GAT1
4 acetylgalactosaminyltransferase activity GO:0008376 9.48 B3GNT2 B3GALNT2
5 transferase activity GO:0016740 9.47 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
6 galactosyltransferase activity GO:0008378 9.46 B3GNT2 B3GALNT2
7 mannosyltransferase activity GO:0000030 9.43 POMT2 POMT1
8 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity GO:0008532 9.4 B4GAT1 B3GNT2
9 dystroglycan binding GO:0002162 9.37 FKRP DAG1
10 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 POMT2 POMT1
11 dolichyl-phosphate beta-D-mannosyltransferase activity GO:0004582 9.26 DPM3 DPM2

Sources for Muscular Dystrophy-Dystroglycanopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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