MCID: CNG547
MIFTS: 25

Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

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 A11

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 12 15
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A11 6
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A11 12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease B3galnt2-Related 12
Mddga11 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111230

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type A11, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a11, is related to muscular dystrophy-dystroglycanopathy , type a, 11 and hypoparathyroidism-retardation-dysmorphism syndrome. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 is B3GALNT2 (Beta-1,3-N-Acetylgalactosaminyltransferase 2). Affiliated tissues include eye and brain.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

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 A11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 11 32.1 TBCE B3GALNT2
2 hypoparathyroidism-retardation-dysmorphism syndrome 10.2 TBCE B3GALNT2
3 muscular dystrophy, congenital, 1b 10.2 DAG1 B3GALNT2
4 glycogen storage disease iii 10.1 MGAT4C ALG1L
5 cobblestone lissencephaly 10.1 DAG1 B3GALNT2
6 muscular dystrophy-dystroglycanopathy , type a, 4 10.1 DAG1 B3GALNT2
7 congenital muscular dystrophy-dystroglycanopathy type a 10.0 DAG1 B3GALNT2 ALG1L
8 muscle eye brain disease 10.0 TBCE DAG1 B3GALNT2
9 muscular dystrophy, congenital merosin-deficient, 1a 10.0 SELENON DAG1
10 myopathy, congenital, bailey-bloch 10.0 SELENON CCDC78
11 isolated elevated serum creatine phosphokinase levels 9.9 SELENON DAG1
12 batten-turner congenital myopathy 9.9 SELENON CCDC78
13 muscular dystrophy-dystroglycanopathy 9.9 TBCE DAG1 B3GALNT2 ALG1L
14 rigid spine muscular dystrophy 1 9.9 SELENON DAG1
15 muscular dystrophy, congenital, lmna-related 9.8 SELENON DAG1 B3GALNT2
16 congenital muscular dystrophy-dystroglycanopathy type a10 9.8 SELENON CCDC78 B3GALNT2
17 ullrich congenital muscular dystrophy 1 9.8 SELENON DAG1
18 congenital muscular dystrophy-dystroglycanopathy a14 9.8 SELENON DAG1 CCDC78
19 muscular dystrophy 9.7 TBCE SELENON DAG1 B3GALNT2
20 walker-warburg syndrome 9.7 TBCE SELENON DAG1 B3GALNT2
21 bethlem myopathy 1 9.7 SELENON DAG1
22 congenital myasthenic syndrome 9.6 SELENON DAG1 CCDC78

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A11:



Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A11:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Articles related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A11:

# Title Authors PMID Year
1
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. 6
29273094 2017
2
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. 6
23453667 2013

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11:

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B3GALNT2 NM_152490.5(B3GALNT2):c.306_307TG[1] (p.Val103fs) Microsatellite Pathogenic 41936 rs367543070 GRCh37: 1:235652525-235652526
GRCh38: 1:235489220-235489221
2 B3GALNT2 , TBCE NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter) SNV Pathogenic 41939 rs367543077 GRCh37: 1:235613601-235613601
GRCh38: 1:235450286-235450286
3 B3GALNT2 NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs) Deletion Pathogenic 540913 rs1553342786 GRCh37: 1:235617556-235617556
GRCh38: 1:235454244-235454244
4 B3GALNT2 NC_000001.11:g.(?_235465599)_(235465734_?)del Deletion Pathogenic 540919 GRCh37: 1:235628916-235629051
GRCh38: 1:235465599-235465734
5 B3GALNT2 NM_152490.5(B3GALNT2):c.763-1G>A SNV Pathogenic 560963 rs780433836 GRCh37: 1:235629032-235629032
GRCh38: 1:235465715-235465715
6 B3GALNT2 NM_152490.5(B3GALNT2):c.699del (p.Val234fs) Deletion Pathogenic 648191 rs1572513308 GRCh37: 1:235634227-235634227
GRCh38: 1:235470913-235470913
7 B3GALNT2 NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter) SNV Pathogenic 578921 rs1282726649 GRCh37: 1:235647745-235647745
GRCh38: 1:235484429-235484429
8 B3GALNT2 NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs) Duplication Pathogenic 132979 rs367543069 GRCh37: 1:235667479-235667480
GRCh38: 1:235504179-235504180
9 B3GALNT2 NM_152490.5(B3GALNT2):c.199C>T (p.Arg67Ter) SNV Pathogenic 847124 GRCh37: 1:235658052-235658052
GRCh38: 1:235494742-235494742
10 B3GALNT2 NM_152490.5(B3GALNT2):c.1275_1278delinsCCT (p.Trp425fs) Indel Pathogenic 965147 GRCh37: 1:235617501-235617504
GRCh38: 1:235454189-235454192
11 B3GALNT2 NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro) SNV Pathogenic/Likely pathogenic 41935 rs367543076 GRCh37: 1:235622061-235622061
GRCh38: 1:235458753-235458753
12 B3GALNT2 NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) SNV Pathogenic/Likely pathogenic 41937 rs367543073 GRCh37: 1:235634171-235634171
GRCh38: 1:235470857-235470857
13 B3GALNT2 NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) Duplication Pathogenic/Likely pathogenic 132981 rs367543075 GRCh37: 1:235628968-235628969
GRCh38: 1:235465651-235465652
14 B3GALNT2 NM_152490.5(B3GALNT2):c.842-1G>C SNV Likely pathogenic 646997 rs764784497 GRCh37: 1:235622095-235622095
GRCh38: 1:235458787-235458787
15 B3GALNT2 NM_152490.5(B3GALNT2):c.1311+1G>C SNV Likely pathogenic 839795 GRCh37: 1:235617467-235617467
GRCh38: 1:235454155-235454155
16 B3GALNT2 NM_152490.5(B3GALNT2):c.762+1G>A SNV Likely pathogenic 522103 rs757347274 GRCh37: 1:235634163-235634163
GRCh38: 1:235470849-235470849
17 B3GALNT2 NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn) SNV Likely pathogenic 242531 rs753340395 GRCh37: 1:235621957-235621957
GRCh38: 1:235458649-235458649
18 B3GALNT2 NM_152490.5(B3GALNT2):c.652-2A>G SNV Likely pathogenic 473888 rs1553347936 GRCh37: 1:235634276-235634276
GRCh38: 1:235470962-235470962
19 B3GALNT2 NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) SNV Conflicting interpretations of pathogenicity 473882 rs142756842 GRCh37: 1:235658082-235658082
GRCh38: 1:235494772-235494772
20 B3GALNT2 NM_152490.5(B3GALNT2):c.10T>C (p.Trp4Arg) SNV Uncertain significance 473878 rs1553356208 GRCh37: 1:235667543-235667543
GRCh38: 1:235504243-235504243
21 B3GALNT2 NM_152490.5(B3GALNT2):c.458A>T (p.Tyr153Phe) SNV Uncertain significance 473887 rs757111780 GRCh37: 1:235647735-235647735
GRCh38: 1:235484419-235484419
22 B3GALNT2 NM_152490.5(B3GALNT2):c.959T>C (p.Ile320Thr) SNV Uncertain significance 473889 rs148808160 GRCh37: 1:235621977-235621977
GRCh38: 1:235458669-235458669
23 B3GALNT2 NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu) SNV Uncertain significance 451717 rs755405777 GRCh37: 1:235634199-235634199
GRCh38: 1:235470885-235470885
24 B3GALNT2 NM_152490.5(B3GALNT2):c.1368+3A>G SNV Uncertain significance 569198 rs1558407116 GRCh37: 1:235616399-235616399
GRCh38: 1:235453087-235453087
25 B3GALNT2 NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met) SNV Uncertain significance 572218 rs781198538 GRCh37: 1:235643393-235643393
GRCh38: 1:235480077-235480077
26 B3GALNT2 NM_152490.5(B3GALNT2):c.896A>G (p.His299Arg) SNV Uncertain significance 572369 rs955249712 GRCh37: 1:235622040-235622040
GRCh38: 1:235458732-235458732
27 B3GALNT2 NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser) SNV Uncertain significance 540914 rs1553343724 GRCh37: 1:235621923-235621923
GRCh38: 1:235458615-235458615
28 B3GALNT2 NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val) SNV Uncertain significance 540915 rs1553342995 GRCh37: 1:235618965-235618965
GRCh38: 1:235455653-235455653
29 B3GALNT2 NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr) SNV Uncertain significance 540916 rs1553342979 GRCh37: 1:235618946-235618946
GRCh38: 1:235455634-235455634
30 B3GALNT2 NM_152490.5(B3GALNT2):c.107C>G (p.Pro36Arg) SNV Uncertain significance 540917 rs1553356108 GRCh37: 1:235667446-235667446
GRCh38: 1:235504146-235504146
31 B3GALNT2 , TBCE NM_152490.5(B3GALNT2):c.1487G>A (p.Arg496Gln) SNV Uncertain significance 473881 rs111541487 GRCh37: 1:235613537-235613537
GRCh38: 1:235450222-235450222
32 B3GALNT2 NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln) SNV Uncertain significance 473880 rs140708018 GRCh37: 1:235617601-235617601
GRCh38: 1:235454289-235454289
33 B3GALNT2 NM_152490.5(B3GALNT2):c.259C>G (p.Arg87Gly) SNV Uncertain significance 473883 rs747653180 GRCh37: 1:235657992-235657992
GRCh38: 1:235494682-235494682
34 B3GALNT2 NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu) SNV Uncertain significance 452907 rs140393851 GRCh37: 1:235647783-235647783
GRCh38: 1:235484467-235484467
35 B3GALNT2 NM_152490.5(B3GALNT2):c.1108A>T (p.Ile370Phe) SNV Uncertain significance 473879 rs1553342963 GRCh37: 1:235618914-235618914
GRCh38: 1:235455602-235455602
36 B3GALNT2 NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile) SNV Uncertain significance 386896 rs151133469 GRCh37: 1:235647727-235647727
GRCh38: 1:235484411-235484411
37 B3GALNT2 NM_152490.5(B3GALNT2):c.842-3T>G SNV Uncertain significance 577040 rs1247622470 GRCh37: 1:235622097-235622097
GRCh38: 1:235458789-235458789
38 B3GALNT2 NM_152490.5(B3GALNT2):c.29C>G (p.Pro10Arg) SNV Uncertain significance 577455 rs1335073175 GRCh37: 1:235667524-235667524
GRCh38: 1:235504224-235504224
39 B3GALNT2 , TBCE NM_152490.5(B3GALNT2):c.1445C>T (p.Thr482Met) SNV Uncertain significance 578722 rs541697587 GRCh37: 1:235613579-235613579
GRCh38: 1:235450264-235450264
40 B3GALNT2 NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys) SNV Uncertain significance 579191 rs773864097 GRCh37: 1:235621917-235621917
GRCh38: 1:235458609-235458609
41 B3GALNT2 NC_000001.10:g.(?_235613501)_(235667572_?)dup Duplication Uncertain significance 583970 GRCh37: 1:235613501-235667572
GRCh38:
42 B3GALNT2 NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val) SNV Uncertain significance 635027 rs1558417340 GRCh37: 1:235628979-235628979
GRCh38: 1:235465662-235465662
43 B3GALNT2 NM_152490.5(B3GALNT2):c.383C>T (p.Ala128Val) SNV Uncertain significance 640877 rs1572539209 GRCh37: 1:235647810-235647810
GRCh38: 1:235484494-235484494
44 B3GALNT2 NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile) SNV Uncertain significance 644502 rs779469431 GRCh37: 1:235629004-235629004
GRCh38: 1:235465687-235465687
45 B3GALNT2 NM_152490.5(B3GALNT2):c.1318G>A (p.Asp440Asn) SNV Uncertain significance 843179 GRCh37: 1:235616452-235616452
GRCh38: 1:235453140-235453140
46 B3GALNT2 NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro) SNV Uncertain significance 843956 GRCh37: 1:235667480-235667480
GRCh38: 1:235504180-235504180
47 B3GALNT2 NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn) SNV Uncertain significance 846522 GRCh37: 1:235618953-235618953
GRCh38: 1:235455641-235455641
48 B3GALNT2 NM_152490.5(B3GALNT2):c.574C>T (p.Arg192Cys) SNV Uncertain significance 846783 GRCh37: 1:235643447-235643447
GRCh38: 1:235480131-235480131
49 B3GALNT2 NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr) SNV Uncertain significance 473886 rs997345764 GRCh37: 1:235667510-235667510
GRCh38: 1:235504210-235504210
50 B3GALNT2 NM_152490.5(B3GALNT2):c.439G>C (p.Val147Leu) SNV Uncertain significance 210513 rs143983025 GRCh37: 1:235647754-235647754
GRCh38: 1:235484438-235484438

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Cellular components related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 8.92 RFNG MGAT4C GBGT1 B3GALNT2

Biological processes related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 8.92 MGAT4C GBGT1 B3GALNT2 ALG1L

Molecular functions related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.43 RFNG MGAT4C GBGT1 B3GALNT2 APRT ALG1L
2 acetylglucosaminyltransferase activity GO:0008375 9.16 RFNG MGAT4C
3 transferase activity, transferring glycosyl groups GO:0016757 9.1 RFNG MGAT4C GBGT1 B3GALNT2 APRT ALG1L

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

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