MCID: CNG554
MIFTS: 24

Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

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

Aliases & Classifications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 12 15
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A1 12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related 12
Mddga1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111237

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type A1, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a1, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and muscular dystrophy-dystroglycanopathy , type c, 1. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include eye and brain, and related phenotypes are mortality/aging and muscle

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

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
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 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 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 31.3 POMT2 POMT1 FKTN FKRP
2 muscular dystrophy-dystroglycanopathy , type c, 1 29.8 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
3 muscular dystrophy-dystroglycanopathy , type a, 4 29.5 POMT2 POMT1 POMK POMGNT1 FKTN FKRP
4 muscular dystrophy-dystroglycanopathy , type a, 3 10.9
5 muscular dystrophy-dystroglycanopathy , type a, 2 10.9
6 muscular dystrophy-dystroglycanopathy , type a, 5 10.9
7 muscular dystrophy-dystroglycanopathy , type a, 6 10.9
8 muscular dystrophy-dystroglycanopathy , type b, 1 10.9
9 muscular dystrophy-dystroglycanopathy , type a, 7 10.9
10 muscular dystrophy-dystroglycanopathy , type a, 8 10.9
11 muscular dystrophy-dystroglycanopathy , type a, 10 10.9
12 muscular dystrophy-dystroglycanopathy , type a, 11 10.9
13 muscular dystrophy-dystroglycanopathy , type a, 12 10.9
14 muscular dystrophy-dystroglycanopathy , type a, 13 10.9
15 muscular dystrophy-dystroglycanopathy , type a, 9 10.9
16 cardiomyopathy, dilated, 1x 10.1 FKTN DAG1
17 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 POMT1 FKRP
18 congenital muscular dystrophy-dystroglycanopathy type a5 10.0 FKRP DAG1
19 epidermolysis bullosa simplex with mottled pigmentation 10.0 POMT2 POMT1
20 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 FKRP DAG1
21 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 FKRP DAG1
22 congenital muscular dystrophy-dystroglycanopathy a7 10.0 FKTN FKRP
23 congenital muscular dystrophy with intellectual disability 9.9 POMT2 POMT1 FKRP
24 autosomal recessive limb-girdle muscular dystrophy type 2a 9.9 FKRP DAG1
25 muscular dystrophy-dystroglycanopathy , type c, 7 9.9 FKTN FKRP
26 isolated elevated serum creatine phosphokinase levels 9.9 POMT1 FKRP DAG1
27 congenital muscular dystrophy-dystroglycanopathy type a2 9.9 POMT2 POMT1 DPM3
28 congenital muscular dystrophy without intellectual disability 9.9 POMT1 FKTN FKRP
29 fukuyama type muscular dystrophy 9.9 FKTN FKRP
30 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 FKRP DAG1
31 muscular dystrophy, becker type 9.8 FKTN FKRP DAG1
32 rigid spine muscular dystrophy 1 9.8 FKTN FKRP DAG1
33 hydrocephalus 9.8 POMT2 POMT1 POMK POMGNT1
34 ullrich congenital muscular dystrophy 1 9.8 FKTN FKRP DAG1
35 retinal lattice degeneration 9.8 POMT2 POMT1 FKTN DAG1
36 peters-plus syndrome 9.8 POMT2 POMT1 POMGNT1 DAG1
37 nonaka myopathy 9.7 FKRP DAG1
38 limb-girdle muscular dystrophy 9.7 POMT1 POMGNT1 FKTN FKRP
39 autosomal recessive limb-girdle muscular dystrophy type 2d 9.7 POMT1 FKTN FKRP DAG1
40 muscular dystrophy, congenital, 1b 9.7 POMK FKTN FKRP DAG1
41 ablepharon-macrostomia syndrome 9.7 POMT1 POMGNT1 FKTN FKRP
42 immunodeficiency 47 9.6 DPM3 DAG1 ALG1
43 congenital muscular dystrophy with cerebellar involvement 9.6 POMT2 POMT1 POMK POMGNT1 FKRP
44 congenital nervous system abnormality 9.6 POMT2 POMT1 POMGNT1 FKTN DAG1
45 cardiomyopathy, dilated, 1d 9.5 POMT2 POMT1 POMGNT1 FKRP DAG1
46 congenital muscular dystrophy-dystroglycanopathy type a3 9.5 POMT2 POMT1 POMK POMGNT1 DPM3
47 hydrophthalmos 9.5 POMT2 POMT1 FKTN DPM3 DAG1
48 muscular disease 9.4 POMT1 POMGNT1 FKTN FKRP DAG1
49 congenital myasthenic syndrome 9.4 POMT1 FKTN FKRP DAG1 ALG1
50 myopathy 9.4 POMT1 FKTN FKRP DPM3 DAG1

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A1:



Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

MGI Mouse Phenotypes related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.81 ALG1 DAG1 DPM3 FKRP FKTN PIGM
2 muscle MP:0005369 9.35 DAG1 FKRP FKTN POMGNT1 POMT1
3 nervous system MP:0003631 9.17 DAG1 FKRP FKTN POMGNT1 POMK POMT1

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A1:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Pathways related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 POMT2 POMT1 POMK POMGNT1 PIGM FKTN
2
Show member pathways
13.18 POMT2 POMT1 POMK POMGNT1 PIGM DPM3
3
Show member pathways
11.62 POMT2 POMT1 POMK POMGNT1 DAG1
4 10.46 POMT2 POMT1 POMK POMGNT1 FKTN FKRP

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Cellular components related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.96 POMT2 POMT1 POMK POMGNT1 PIGM FKTN
2 integral component of membrane GO:0016021 9.65 POMT2 POMT1 POMK POMGNT1 PIGM FKTN
3 endoplasmic reticulum membrane GO:0005789 9.63 POMT2 POMT1 POMK PIGM DPM3 ALG1
4 integral component of Golgi membrane GO:0030173 9.32 POMGNT1 FKTN
5 endoplasmic reticulum GO:0005783 9.23 POMT2 POMT1 POMK PIGM FKTN FKRP

Biological processes related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mannosylation GO:0097502 9.56 POMT2 POMT1 PIGM ALG1
2 protein O-linked glycosylation GO:0006493 9.55 POMT2 POMT1 POMK POMGNT1 FKTN
3 protein glycosylation GO:0006486 9.5 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
4 GPI anchor biosynthetic process GO:0006506 9.37 PIGM DPM3
5 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT2 POMT1
6 protein O-linked mannosylation GO:0035269 9.02 POMT2 POMT1 FKTN FKRP DPM3

Molecular functions related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.76 POMT2 POMT1 POMK POMGNT1 PIGM FKTN
2 transferase activity, transferring glycosyl groups GO:0016757 9.35 POMT2 POMT1 POMGNT1 PIGM ALG1
3 dystroglycan binding GO:0002162 9.32 FKRP DAG1
4 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.26 POMT2 POMT1
5 mannosyltransferase activity GO:0000030 8.92 POMT2 POMT1 PIGM ALG1

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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