MDDGA
MCID: CNG546
MIFTS: 31

Congenital Muscular Dystrophy-Dystroglycanopathy Type a (MDDGA)

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 a

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

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type a 12 15
Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies 12 20 58 6
Mddga 12 20 58
Lissencephaly Type 2 with Muscular and Ocular Involvement 20 58
Klissencephaly Type 2 with Muscular and Ocular Involvement 12

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111229
Orphanet 58 ORPHA352687

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has material basis in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type a, also known as congenital muscular alpha-dystroglycanopathy with brain and eye anomalies, is related to congenital muscular dystrophy-dystroglycanopathy type a2 and congenital muscular dystrophy-dystroglycanopathy type a11. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type a is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include eye and brain, and related phenotypes are cellular and mortality/aging

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

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 a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a2 32.4 POMT2 POMT1 DPM3
2 congenital muscular dystrophy-dystroglycanopathy type a11 32.4 DAG1 B3GALNT2
3 congenital muscular dystrophy-dystroglycanopathy type a10 32.3 POMK LAMA2 B3GALNT2
4 congenital muscular dystrophy-dystroglycanopathy a7 32.3 FKTN FKRP CRPPA
5 congenital muscular dystrophy-dystroglycanopathy a14 32.3 LAMA2 GMPPB DAG1
6 congenital muscular dystrophy-dystroglycanopathy type a5 31.9 RXYLT1 POMGNT2 FKRP EGFLAM DAG1 B3GNT2
7 congenital muscular dystrophy-dystroglycanopathy type a1 31.8 POMT2 POMT1 POMK POMGNT1 FKTN FKRP
8 congenital muscular dystrophy-dystroglycanopathy type a3 31.3 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
9 congenital muscular dystrophy due to dystroglycanopathy 30.6 GMPPB FKRP CRPPA
10 walker-warburg syndrome 29.7 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
11 muscular dystrophy-dystroglycanopathy , type a, 4 29.6 RXYLT1 RNU4ATAC POMT2 POMT1 POMK POMGNT2
12 muscular dystrophy, congenital, lmna-related 29.4 RXYLT1 POMT2 POMT1 POMGNT1 LAMA2 GMPPB
13 muscular dystrophy 28.2 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
14 muscular dystrophy-dystroglycanopathy 28.1 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
15 congenital muscular dystrophy-dystroglycanopathy type a8 11.3
16 congenital muscular dystrophy-dystroglycanopathy type a9 11.3
17 congenital muscular dystrophy-dystroglycanopathy type a12 11.3
18 congenital muscular dystrophy-dystroglycanopathy type a13 11.3
19 congenital muscular dystrophy-dystroglycanopathy type a6 11.3
20 retinitis pigmentosa 76 10.4 TSPAN1 POMGNT1
21 cardiomyopathy, dilated, 1x 10.4 FKTN DAG1
22 autosomal recessive limb-girdle muscular dystrophy type 2j 10.3 POMT1 FKRP
23 brazilian hemorrhagic fever 10.3 DAG1 CRPPA
24 muscular dystrophy, limb-girdle, autosomal recessive 7 10.3 FKRP DMD
25 muscular dystrophy-dystroglycanopathy , type a, 8 10.3 POMGNT2 CRPPA
26 muscular dystrophy-dystroglycanopathy , type c, 14 10.2 GMPPB DAG1
27 retinal lattice degeneration 10.2 POMT2 POMT1 FKTN DAG1
28 ablepharon-macrostomia syndrome 10.2 POMT1 POMGNT1 FKTN FKRP
29 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 FKRP DMD DAG1
30 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.2 LAMA2 DAG1 CRPPA
31 muscular dystrophy-dystroglycanopathy , type c, 9 10.2 GMPPB DAG1
32 optic nerve hypoplasia, bilateral 10.2
33 strabismus 10.2
34 muscular dystrophy-dystroglycanopathy , type a, 3 10.2
35 monocular esotropia 10.2
36 mechanical strabismus 10.2
37 pathologic nystagmus 10.2
38 esotropia 10.2
39 spasticity 10.2
40 qualitative or quantitative defects of alpha-dystroglycan 10.2
41 nonaka myopathy 10.2 FKRP DMD DAG1
42 muscular dystrophy, limb-girdle, autosomal recessive 6 10.2 FKRP DMD
43 miyoshi muscular dystrophy 10.2 FKRP DMD DAG1
44 congenital muscular dystrophy without intellectual disability 10.2 POMT1 FKTN FKRP CRPPA
45 lissencephaly 2 10.2 RNU4ATAC FKTN
46 cardiomyopathy, dilated, 3b 10.2 DMD DAG1
47 autosomal recessive limb-girdle muscular dystrophy type 2c 10.2 LAMA2 FKRP DMD DAG1
48 limb-girdle muscular dystrophy 10.2 POMT1 POMGNT1 LAMA2 FKTN FKRP
49 autosomal recessive limb-girdle muscular dystrophy type 2a 10.2 LAMA2 FKRP DMD DAG1
50 congenital muscular dystrophy with intellectual disability 10.2 POMT2 POMT1 GMPPB FKRP

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



Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 B3GNT2 CRPPA DAG1 DMD FKRP FKTN
2 mortality/aging MP:0010768 10 B3GALNT2 CRPPA DAG1 DMD DPM2 DPM3
3 muscle MP:0005369 9.5 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
4 nervous system MP:0003631 9.44 B3GNT2 CRPPA DAG1 DMD EGFLAM FKRP

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

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

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

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

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

Articles related to Congenital Muscular Dystrophy-Dystroglycanopathy Type a:

# Title Authors PMID Year
1
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. 61
29555514 2018

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type a:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1539+1G>A SNV Pathogenic 56582 rs138642840 GRCh37: 1:46657769-46657769
GRCh38: 1:46192097-46192097
2 POMT2 NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs) Indel Likely pathogenic 436383 rs1555356398 GRCh37: 14:77786975-77786976
GRCh38: 14:77320632-77320633

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

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

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
2
Show member pathways
13.49 POMT2 POMT1 POMK POMGNT2 POMGNT1 GMPPB
3
Show member pathways
11.82 POMT2 POMT1 POMK POMGNT2 POMGNT1 DAG1
4 10.71 LAMA2 DMD DAG1
5 10.68 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.31 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
2 integral component of membrane GO:0016021 10.1 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
3 Golgi apparatus GO:0005794 9.98 RXYLT1 POMGNT1 FKTN FKRP DMD B3GNT2
4 endoplasmic reticulum membrane GO:0005789 9.87 POMT2 POMT1 POMK POMGNT2 DPM3 DPM2
5 Golgi membrane GO:0000139 9.85 RXYLT1 POMGNT1 FKTN FKRP B3GNT2 B3GALNT2
6 basement membrane GO:0005604 9.63 LAMA2 EGFLAM DAG1
7 costamere GO:0043034 9.51 DMD DAG1
8 synaptic cleft GO:0043083 9.49 LAMA2 EGFLAM
9 dystrophin-associated glycoprotein complex GO:0016010 9.48 DMD DAG1
10 endoplasmic reticulum GO:0005783 9.28 POMT2 POMT1 POMK POMGNT2 FKTN FKRP
11 sarcolemma GO:0042383 9.26 LAMA2 FKRP DMD DAG1
12 dolichol-phosphate-mannose synthase complex GO:0033185 9.16 DPM3 DPM2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.73 POMT1 LAMA2 EGFLAM DAG1
2 protein O-linked glycosylation GO:0006493 9.7 POMT2 POMT1 POMK POMGNT2 POMGNT1 FKTN
3 axon guidance GO:0007411 9.67 LAMA2 DAG1 CRPPA B3GNT2
4 muscle organ development GO:0007517 9.63 LAMA2 FKTN DMD
5 protein O-linked mannosylation GO:0035269 9.61 RXYLT1 POMT2 POMT1 POMGNT2 FKTN FKRP
6 skeletal muscle tissue regeneration GO:0043403 9.49 DMD DAG1
7 mannosylation GO:0097502 9.48 POMT2 POMT1
8 response to denervation involved in regulation of muscle adaptation GO:0014894 9.4 DMD DAG1
9 protein glycosylation GO:0006486 9.4 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 FKTN
10 Schwann cell differentiation GO:0014037 9.32 LAMA2 DAG1
11 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1

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

# Name GO ID Score Top Affiliating Genes
1 acetylglucosaminyltransferase activity GO:0008375 9.5 POMGNT2 POMGNT1 B3GNT2
2 acetylgalactosaminyltransferase activity GO:0008376 9.46 B3GNT2 B3GALNT2
3 mannosyltransferase activity GO:0000030 9.43 POMT2 POMT1
4 transferase activity, transferring glycosyl groups GO:0016757 9.43 POMT2 POMT1 POMGNT2 POMGNT1 B3GNT2 B3GALNT2
5 vinculin binding GO:0017166 9.4 DMD DAG1
6 transferase activity GO:0016740 9.4 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.37 POMT2 POMT1
8 dystroglycan binding GO:0002162 9.33 FKRP DMD DAG1
9 dolichyl-phosphate beta-D-mannosyltransferase activity GO:0004582 9.26 DPM3 DPM2

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type a

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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