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 behavior/neurological and mortality/aging

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
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 70)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 30.6 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
2 muscular dystrophy-dystroglycanopathy , type c, 1 29.0 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
3 muscular dystrophy-dystroglycanopathy , type a, 4 28.2 ZC4H2 POMT2 POMT1 POMK POMGNT1 FKTN
4 muscular dystrophy-dystroglycanopathy , type a, 3 11.1
5 muscular dystrophy-dystroglycanopathy , type a, 2 11.1
6 muscular dystrophy-dystroglycanopathy , type a, 5 11.1
7 muscular dystrophy-dystroglycanopathy , type a, 6 11.1
8 muscular dystrophy-dystroglycanopathy , type b, 1 11.1
9 muscular dystrophy-dystroglycanopathy , type a, 7 11.1
10 muscular dystrophy-dystroglycanopathy , type a, 8 11.1
11 muscular dystrophy-dystroglycanopathy , type a, 10 11.1
12 muscular dystrophy-dystroglycanopathy , type a, 11 11.1
13 muscular dystrophy-dystroglycanopathy , type a, 12 11.1
14 muscular dystrophy-dystroglycanopathy , type a, 13 11.1
15 muscular dystrophy-dystroglycanopathy , type a, 9 11.1
16 autosomal recessive limb-girdle muscular dystrophy type 2w 10.1 ZC4H2 POMT2
17 cardiomyopathy, dilated, 1g 10.1 POMT1 POMK
18 brazilian hemorrhagic fever 10.0 ZC4H2 DAG1
19 autosomal recessive limb-girdle muscular dystrophy type 2j 10.0 POMT1 FKRP
20 congenital muscular dystrophy-dystroglycanopathy type a5 9.9 FKRP DAG1
21 autosomal recessive limb-girdle muscular dystrophy type 2g 9.9 POMT1 FKRP
22 autosomal recessive limb-girdle muscular dystrophy type 2c 9.9 FKRP DAG1
23 congenital muscular dystrophy with intellectual disability 9.9 POMT2 POMT1 FKRP
24 autosomal recessive limb-girdle muscular dystrophy type 2f 9.9 FKRP DAG1
25 cardiomyopathy, dilated, 1x 9.8 FKTN DAG1
26 isolated elevated serum creatine phosphokinase levels 9.7 POMT1 FKRP DAG1
27 cardiomyopathy, dilated, 3b 9.7 FKTN DAG1
28 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 FKRP DAG1
29 congenital muscular dystrophy without intellectual disability 9.7 POMT1 FKTN FKRP
30 peters-plus syndrome 9.6 POMT2 POMT1 POMGNT1 DAG1
31 muscular dystrophy, limb-girdle, autosomal recessive 2 9.5 POMT2 POMT1 FKRP DAG1
32 ullrich congenital muscular dystrophy 1 9.5 FKRP DAG1
33 autosomal recessive limb-girdle muscular dystrophy type 2a 9.5 FKTN FKRP DAG1
34 periventricular nodular heterotopia 9.5 POMT2 POMT1 POMGNT1 FKTN
35 muscular dystrophy, becker type 9.5 FKTN FKRP DAG1
36 retinal lattice degeneration 9.5 POMT2 POMT1 FKTN DAG1
37 limb-girdle muscular dystrophy 9.5 POMT1 POMGNT1 FKTN FKRP
38 autosomal recessive limb-girdle muscular dystrophy 9.4 POMT1 FKTN FKRP DAG1
39 congenital muscular dystrophy with cerebellar involvement 9.4 POMT2 POMT1 POMK POMGNT1 FKRP
40 ablepharon-macrostomia syndrome 9.4 POMT1 POMGNT1 FKTN FKRP
41 autosomal recessive limb-girdle muscular dystrophy type 2d 9.3 POMT1 FKTN FKRP DAG1
42 cardiomyopathy, dilated, 1d 9.3 POMT2 POMT1 POMGNT1 FKRP DAG1
43 congenital muscular dystrophy-dystroglycanopathy type a2 9.3 POMT2 POMT1 PIGM DPM3
44 rigid spine muscular dystrophy 1 9.2 POMGNT1 FKTN FKRP DAG1
45 congenital muscular dystrophy-dystroglycanopathy type a3 9.1 ZC4H2 POMT2 POMK POMGNT1 DPM3
46 muscular dystrophy, congenital, 1b 9.0 POMK POMGNT1 FKTN FKRP DAG1
47 autosomal recessive limb-girdle muscular dystrophy type 2l 8.9 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
48 muscular dystrophy, congenital merosin-deficient, 1a 8.8 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
49 muscular dystrophy-dystroglycanopathy , type c, 5 8.8 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
50 bethlem myopathy 1 8.8 POMT2 POMT1 POMGNT1 FKTN FKRP 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 DAG1 DPM3 FKRP FKTN POMGNT1 POMK
2 mortality/aging MP:0010768 9.76 DAG1 DPM3 FKRP FKTN PIGM POMGNT1
3 muscle MP:0005369 9.35 DAG1 FKRP FKTN POMGNT1 POMT1
4 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
13.51 POMT2 POMT1 POMK POMGNT1 PIGM FKTN
2
Show member pathways
13.12 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 9.85 ZC4H2 POMT2 POMT1 POMK POMGNT1 PIGM
2 endoplasmic reticulum membrane GO:0005789 9.65 POMT2 POMT1 POMK PIGM DPM3
3 integral component of membrane GO:0016021 9.61 POMT2 POMT1 POMK POMGNT1 PIGM FKTN
4 integral component of Golgi membrane GO:0030173 9.32 POMGNT1 FKTN
5 endoplasmic reticulum GO:0005783 9.17 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 protein glycosylation GO:0006486 9.63 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
2 mannosylation GO:0097502 9.43 POMT2 POMT1 PIGM
3 GPI anchor biosynthetic process GO:0006506 9.37 PIGM DPM3
4 protein O-linked glycosylation GO:0006493 9.35 POMT2 POMT1 POMK POMGNT1 FKTN
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 9.5 POMT2 POMT1 POMK POMGNT1 PIGM FKTN
2 transferase activity, transferring glycosyl groups GO:0016757 9.46 POMT2 POMT1 POMGNT1 PIGM
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 8.8 POMT2 POMT1 PIGM

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

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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