MCID: QLT041
MIFTS: 21

Qualitative or Quantitative Defects of Alpha-Dystroglycan

Categories: Rare diseases

Aliases & Classifications for Qualitative or Quantitative Defects of Alpha-Dystroglycan

MalaCards integrated aliases for Qualitative or Quantitative Defects of Alpha-Dystroglycan:

Name: Qualitative or Quantitative Defects of Alpha-Dystroglycan 58
Alpha-Dystroglycanopathy 58
Dystroglycanopathy 58

Classifications:



External Ids:

ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 72 C2936406
Orphanet 58 ORPHA371024

Summaries for Qualitative or Quantitative Defects of Alpha-Dystroglycan

MalaCards based summary : Qualitative or Quantitative Defects of Alpha-Dystroglycan, also known as alpha-dystroglycanopathy, is related to primary qualitative or quantitative defects of alpha-dystroglycan and muscular dystrophy-dystroglycanopathy , type c, 9. The drugs Antibodies and Immunoglobulins, Intravenous have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and eye.

Related Diseases for Qualitative or Quantitative Defects of Alpha-Dystroglycan

Diseases in the Qualitative or Quantitative Defects of Alpha-Dystroglycan family:

Primary Qualitative or Quantitative Defects of Alpha-Dystroglycan

Diseases related to Qualitative or Quantitative Defects of Alpha-Dystroglycan via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 primary qualitative or quantitative defects of alpha-dystroglycan 12.8
2 muscular dystrophy-dystroglycanopathy , type c, 9 12.6
3 muscular dystrophy-dystroglycanopathy , type c, 1 12.6
4 muscular dystrophy-dystroglycanopathy , type c, 14 12.6
5 muscular dystrophy-dystroglycanopathy , type a, 4 12.6
6 muscular dystrophy-dystroglycanopathy , type c, 5 12.6
7 muscular dystrophy-dystroglycanopathy , type b, 6 12.6
8 muscular dystrophy-dystroglycanopathy , type b, 5 12.6
9 muscular dystrophy-dystroglycanopathy , type a, 3 12.6
10 muscular dystrophy-dystroglycanopathy , type a, 10 12.6
11 muscular dystrophy-dystroglycanopathy , type a, 12 12.6
12 muscular dystrophy-dystroglycanopathy , type a, 1 12.6
13 muscular dystrophy-dystroglycanopathy , type b, 2 12.6
14 muscular dystrophy-dystroglycanopathy , type c, 12 12.5
15 muscular dystrophy-dystroglycanopathy , type c, 3 12.5
16 muscular dystrophy-dystroglycanopathy , type c, 2 12.5
17 muscular dystrophy-dystroglycanopathy , type a, 8 12.5
18 muscular dystrophy-dystroglycanopathy , type a, 11 12.5
19 congenital muscular dystrophy-dystroglycanopathy type a 12.5
20 muscular dystrophy-dystroglycanopathy , type b, 4 12.5
21 muscular dystrophy-dystroglycanopathy , type b, 1 12.5
22 muscular dystrophy-dystroglycanopathy , type c, 15 12.5
23 muscular dystrophy-dystroglycanopathy , type a, 13 12.5
24 muscular dystrophy-dystroglycanopathy , type b, 3 12.5
25 muscular dystrophy-dystroglycanopathy , type c, 8 12.5
26 muscular dystrophy-dystroglycanopathy , type a, 2 12.5
27 muscular dystrophy-dystroglycanopathy , type a, 5 12.5
28 muscular dystrophy-dystroglycanopathy , type a, 6 12.5
29 muscular dystrophy-dystroglycanopathy , type a, 7 12.5
30 muscular dystrophy-dystroglycanopathy , type a, 9 12.5
31 muscular dystrophy-dystroglycanopathy , type c, 4 12.5
32 muscular dystrophy-dystroglycanopathy , type b, 14 12.5
33 muscular dystrophy-dystroglycanopathy , type c, 7 12.4
34 muscular dystrophy-dystroglycanopathy , type a, 14 12.4
35 congenital muscular dystrophy-dystroglycanopathy a7 12.4
36 congenital muscular dystrophy-dystroglycanopathy type a2 12.4
37 congenital muscular dystrophy-dystroglycanopathy type a5 12.4
38 congenital muscular dystrophy-dystroglycanopathy type a6 12.4
39 congenital muscular dystrophy-dystroglycanopathy type a3 12.4
40 congenital muscular dystrophy due to dystroglycanopathy 12.4
41 congenital muscular dystrophy-dystroglycanopathy type a11 12.3
42 congenital muscular dystrophy-dystroglycanopathy a14 12.3
43 congenital muscular dystrophy-dystroglycanopathy type a12 12.3
44 congenital muscular dystrophy-dystroglycanopathy type a1 12.3
45 congenital muscular dystrophy-dystroglycanopathy type a10 12.3
46 muscular dystrophy-dystroglycanopathy 12.3
47 congenital muscular dystrophy-dystroglycanopathy type a8 12.3
48 congenital muscular dystrophy-dystroglycanopathy type a9 12.3
49 congenital muscular dystrophy-dystroglycanopathy type a13 12.3
50 walker-warburg syndrome 12.2

Graphical network of the top 20 diseases related to Qualitative or Quantitative Defects of Alpha-Dystroglycan:



Diseases related to Qualitative or Quantitative Defects of Alpha-Dystroglycan

Symptoms & Phenotypes for Qualitative or Quantitative Defects of Alpha-Dystroglycan

Drugs & Therapeutics for Qualitative or Quantitative Defects of Alpha-Dystroglycan

Drugs for Qualitative or Quantitative Defects of Alpha-Dystroglycan (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 1
2 Immunoglobulins, Intravenous Phase 1
3 Rho(D) Immune Globulin Phase 1
4 gamma-Globulins Phase 1
5 Immunologic Factors Phase 1
6 Immunoglobulins Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1 Immune Globulin
2 Clinical Trial Readiness for the Dystroglycanopathies Recruiting NCT00313677

Search NIH Clinical Center for Qualitative or Quantitative Defects of Alpha-Dystroglycan

Genetic Tests for Qualitative or Quantitative Defects of Alpha-Dystroglycan

Anatomical Context for Qualitative or Quantitative Defects of Alpha-Dystroglycan

MalaCards organs/tissues related to Qualitative or Quantitative Defects of Alpha-Dystroglycan:

40
Brain, Skeletal Muscle, Eye, Heart, Kidney

Publications for Qualitative or Quantitative Defects of Alpha-Dystroglycan

Articles related to Qualitative or Quantitative Defects of Alpha-Dystroglycan:

(show top 50) (show all 179)
# Title Authors PMID Year
1
ISPD Overexpression Enhances Ribitol-Induced Glycosylation of α-Dystroglycan in Dystrophic FKRP Mutant Mice. 61
31988979 2020
2
Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy. 61
32453729 2020
3
Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies. 61
32423971 2020
4
Impact of scoliosis surgery on pulmonary function in patients with muscular dystrophies and spinal muscular atrophy. 61
32012473 2020
5
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. 61
31833209 2020
6
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant). 61
32115343 2020
7
biAb Mediated Restoration of the Linkage between Dystroglycan and Laminin-211 as a Therapeutic Approach for α-Dystroglycanopathies. 61
31843448 2020
8
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
9
Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy. 61
31949166 2020
10
Profiling of the muscle-specific dystroglycan interactome reveals the role of Hippo signaling in muscular dystrophy and age-dependent muscle atrophy. 61
31959160 2020
11
FAM3B/PANDER-Like Carbohydrate-Binding Domain in a Glycosyltransferase, POMGNT1. 61
32306360 2020
12
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB). 61
31580529 2019
13
Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement. 61
31469168 2019
14
A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan. 61
31566294 2019
15
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex. 61
31747956 2019
16
A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. 61
31741824 2019
17
Congenital muscular dystrophies in China. 61
31066047 2019
18
NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy. 61
31391079 2019
19
Demembranated skeletal and cardiac fibers produce less force with altered cross-bridge kinetics in a mouse model for limb-girdle muscular dystrophy 2i. 61
31091146 2019
20
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. 61
30990900 2019
21
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene. 61
31266720 2019
22
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. 61
30961548 2019
23
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
24
Advances in imaging of brain abnormalities in neuromuscular disease. 61
31105770 2019
25
LARGE expression in different types of muscular dystrophies other than dystroglycanopathy. 61
30553274 2018
26
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report. 61
30126629 2018
27
Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene. 61
30937090 2018
28
Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations. 61
29888467 2018
29
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. 61
30257713 2018
30
A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy. 61
30017359 2018
31
Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice. 61
30150693 2018
32
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss. 61
29791932 2018
33
CDP-glycerol inhibits the synthesis of the functional O-mannosyl glycan of α-dystroglycan. 61
29884773 2018
34
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. 61
30060766 2018
35
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. 61
29910097 2018
36
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. 61
29437916 2018
37
Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice. 61
29858056 2018
38
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. 61
29555514 2018
39
Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy. 61
29867208 2018
40
Congenital Aqueductal Stenosis: Findings at Fetal MRI That Accurately Predict a Postnatal Diagnosis. 61
29519789 2018
41
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. 61
29855340 2018
42
Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy. 61
29571322 2018
43
Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage. 61
29360985 2018
44
A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient. 61
29225264 2018
45
Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5. 61
29477842 2018
46
A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein. 61
29134705 2018
47
Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes. 61
29416295 2018
48
Illness-associated muscle weakness in dystroglycanopathies. 61
29101272 2017
49
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
50
Skeletal muscle contractile properties in a novel murine model for limb girdle muscular dystrophy 2i. 61
28860175 2017

Variations for Qualitative or Quantitative Defects of Alpha-Dystroglycan

Expression for Qualitative or Quantitative Defects of Alpha-Dystroglycan

Search GEO for disease gene expression data for Qualitative or Quantitative Defects of Alpha-Dystroglycan.

Pathways for Qualitative or Quantitative Defects of Alpha-Dystroglycan

GO Terms for Qualitative or Quantitative Defects of Alpha-Dystroglycan

Sources for Qualitative or Quantitative Defects of Alpha-Dystroglycan

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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