MCID: CNG553
MIFTS: 29

Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

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 A3

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 12 15
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A3 6
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A3 12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomgnt1-Related 12
Mddga3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111236

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type A3, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a3, is related to muscle eye brain disease and muscular dystrophy-dystroglycanopathy , type a, 3. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 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 phenotype is mortality/aging.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

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 A3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 muscle eye brain disease 30.3 TSPAN1 POMT2 POMT1 POMGNT2 POMGNT1 B3GALNT2
2 muscular dystrophy-dystroglycanopathy , type a, 3 11.2
3 retinitis pigmentosa 76 10.2 TSPAN1 POMGNT1
4 congenital muscular dystrophy-dystroglycanopathy type a10 10.1 POMK B3GALNT2
5 congenital muscular dystrophy-dystroglycanopathy type a5 10.0 RXYLT1 POMGNT2
6 congenital disorder of glycosylation, type im 10.0 DPM3 DOLK
7 ablepharon-macrostomia syndrome 10.0 POMT1 POMGNT1
8 muscular dystrophy, congenital, 1b 9.9 RXYLT1 POMK B3GALNT2
9 congenital muscular dystrophy with intellectual disability 9.9 POMT2 POMT1
10 combined oxidative phosphorylation deficiency 6 9.9 RXYLT1 B3GALNT2
11 retinal lattice degeneration 9.8 POMT2 POMT1
12 muscular disease 9.8 POMT1 POMGNT2 POMGNT1
13 autosomal recessive limb-girdle muscular dystrophy type 2l 9.8 POMT2 POMT1 POMGNT1
14 cardiomyopathy, dilated, 1d 9.8 POMT2 POMT1 POMGNT1
15 congenital muscular dystrophy-dystroglycanopathy type a2 9.8 POMT2 POMT1 DPM3
16 muscular dystrophy, congenital merosin-deficient, 1a 9.8 POMT2 POMT1 POMGNT1
17 adermatoglyphia 9.8 POMT2 POMT1 POMGNT1
18 hydrophthalmos 9.8 POMT2 POMT1 DPM3
19 bethlem myopathy 1 9.8 POMT2 POMT1 POMGNT1
20 congenital nervous system abnormality 9.7 POMT2 POMT1 POMGNT1
21 congenital disorder of glycosylation, type ie 9.7 DPM3 DOLK
22 muscle tissue disease 9.7 POMT2 POMT1 POMGNT1
23 epidermolysis bullosa simplex with mottled pigmentation 9.7 POMT2 POMT1
24 muscular dystrophy-dystroglycanopathy , type c, 2 9.6 POMT2 POMT1 POMGNT1 DPM3
25 muscular dystrophy-dystroglycanopathy , type c, 1 9.6 POMT2 POMT1 POMGNT1 DPM3
26 muscular dystrophy-dystroglycanopathy , type c, 4 9.6 POMT2 POMT1 POMGNT1 DPM3
27 muscular dystrophy-dystroglycanopathy , type a, 1 9.6 RXYLT1 POMT2 POMT1
28 peters-plus syndrome 9.6 POMT2 POMT1 POMGNT1
29 congenital muscular dystrophy with cerebellar involvement 9.6 POMT2 POMT1 POMK POMGNT1
30 muscular dystrophy-dystroglycanopathy , type c, 5 9.6 POMT2 POMT1 POMGNT2 POMGNT1
31 immunodeficiency 47 9.5 DPM3 DPM2 DOLK
32 muscular dystrophy, limb-girdle, autosomal recessive 2 9.5 RXYLT1 POMT2 POMT1 POMGNT1
33 congenital muscular dystrophy-dystroglycanopathy type a1 9.5 POMT2 POMT1 POMK POMGNT1 DPM3
34 muscular dystrophy-dystroglycanopathy , type b, 6 9.4 RXYLT1 POMT2 POMT1 POMGNT1 DPM3
35 hydrocephalus 9.4 POMT2 POMT1 POMK POMGNT2 POMGNT1
36 muscular dystrophy-dystroglycanopathy , type b, 5 9.2 POMT2 POMT1 POMK POMGNT2 POMGNT1 DPM3
37 muscular dystrophy-dystroglycanopathy , type c, 3 9.2 TSPAN1 RXYLT1 POMT2 POMT1 POMGNT1 DPM3
38 muscular dystrophy, congenital, lmna-related 9.1 RXYLT1 POMT2 POMT1 POMGNT1 DOLK B3GALNT2
39 congenital disorder of glycosylation, type in 9.0 POMT2 POMT1 DPM3 DPM2 DOLK
40 autosomal recessive limb-girdle muscular dystrophy 9.0 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT1
41 lissencephaly 9.0 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
42 cobblestone lissencephaly 8.8 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
43 glaucoma 3, primary congenital, a 8.7 RXYLT1 POMT2 POMT1 POMGNT1 DPM3 DPM2
44 muscular dystrophy 8.2 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
45 muscular dystrophy-dystroglycanopathy , type a, 4 8.1 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
46 muscular dystrophy-dystroglycanopathy 7.9 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
47 congenital muscular dystrophy-dystroglycanopathy type a 7.9 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
48 walker-warburg syndrome 7.9 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A3:



Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

MGI Mouse Phenotypes related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.28 B3GALNT2 DOLK DPM2 DPM3 POMGNT1 POMGNT2

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A3:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Articles related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A3:

# Title Authors PMID Year
1
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6
19299310 2009
2
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6
17878207 2007
3
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 6
17030669 2006
4
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 6
15466003 2004
5
POMGnT1 gene alterations in a family with neurological abnormalities. 6
15236414 2004
6
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. 6
12588800 2003
7
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. 6
11709191 2001
8
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB). 61
31580529 2019

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1413+1G>T SNV Pathogenic 3986 rs587777821 GRCh37: 1:46657979-46657979
GRCh38: 1:46192307-46192307
2 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1413+1G>A SNV Pathogenic 3987 rs587777821 GRCh37: 1:46657979-46657979
GRCh38: 1:46192307-46192307
3 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1478C>G (p.Pro493Arg) SNV Pathogenic 3990 rs28942068 GRCh37: 1:46657831-46657831
GRCh38: 1:46192159-46192159
4 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1832del (p.Leu611fs) Deletion Pathogenic 3995 rs587777822 GRCh37: 1:46655193-46655193
GRCh38: 1:46189521-46189521
5 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1425G>A (p.Trp475Ter) SNV Pathogenic 3996 rs267606961 GRCh37: 1:46657884-46657884
GRCh38: 1:46192212-46192212
6 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) SNV Pathogenic 3988 rs193919335 GRCh37: 1:46656145-46656145
GRCh38: 1:46190473-46190473
7 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1719del (p.His573fs) Deletion Pathogenic 3989 rs386834017 GRCh37: 1:46655592-46655592
GRCh38: 1:46189920-46189920
8 POMGNT1 , TSPAN1 NM_001243766.1(POMGNT1):c.1869+7del Deletion Pathogenic 56591 rs386834022 GRCh37: 1:46655149-46655149
GRCh38: 1:46189477-46189477
9 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) SNV Pathogenic 3992 rs28940869 GRCh37: 1:46658069-46658069
GRCh38: 1:46192397-46192397
10 POMGNT1 NM_001290130.1(POMGNT1):c.-243C>T SNV Pathogenic 3994 rs193919337 GRCh37: 1:46662690-46662690
GRCh38: 1:46197018-46197018
11 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) SNV Pathogenic 3993 rs193919336 GRCh37: 1:46659545-46659545
GRCh38: 1:46193873-46193873

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Cellular components related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.06 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
2 integral component of membrane GO:0016021 9.9 TSPAN1 RXYLT1 POMT2 POMT1 POMK POMGNT2
3 endoplasmic reticulum GO:0005783 9.56 POMT2 POMT1 POMK POMGNT2 DPM3 DPM2
4 integral component of endoplasmic reticulum membrane GO:0030176 9.54 DPM3 DPM2 DOLK
5 dolichol-phosphate-mannose synthase complex GO:0033185 9.26 DPM3 DPM2
6 endoplasmic reticulum membrane GO:0005789 9.23 POMT2 POMT1 POMK POMGNT2 DPM3 DPM2

Biological processes related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.63 POMT2 POMT1 POMK POMGNT2 POMGNT1 B3GALNT2
2 protein glycosylation GO:0006486 9.56 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 DPM3
3 GPI anchor biosynthetic process GO:0006506 9.4 DPM3 DPM2
4 protein N-linked glycosylation via asparagine GO:0018279 9.37 DPM3 DPM2
5 mannosylation GO:0097502 9.32 POMT2 POMT1
6 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1
7 protein O-linked mannosylation GO:0035269 9.1 RXYLT1 POMT2 POMT1 POMGNT2 DPM3 DPM2

Molecular functions related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.56 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
2 enzyme activator activity GO:0008047 9.4 DPM3 DPM2
3 acetylglucosaminyltransferase activity GO:0008375 9.37 POMGNT2 POMGNT1
4 mannosyltransferase activity GO:0000030 9.32 POMT2 POMT1
5 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.26 POMT2 POMT1
6 dolichyl-phosphate beta-D-mannosyltransferase activity GO:0004582 9.16 DPM3 DPM2
7 transferase activity, transferring glycosyl groups GO:0016757 9.02 POMT2 POMT1 POMGNT2 POMGNT1 B3GALNT2

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

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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