MDDGA11
MCID: MSC167
MIFTS: 32

Muscular Dystrophy-Dystroglycanopathy , Type a, 11 (MDDGA11)

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 11:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 11 57 29 6 70
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 57 72 29 13
Mddga11 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A11 72
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, B3galnt2-Related 57
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease B3galnt2-Related 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in infancy


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 11:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

OMIM® : 57 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (615181) (Updated 20-May-2021)

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

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

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 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a11 31.0 TBCE B3GALNT2
2 muscular dystrophy-dystroglycanopathy 9.7 TBCE B3GALNT2
3 muscular dystrophy 9.7 TBCE B3GALNT2
4 hypoparathyroidism-retardation-dysmorphism syndrome 9.7 TBCE B3GALNT2
5 muscle eye brain disease 9.6 TBCE B3GALNT2
6 walker-warburg syndrome 9.6 TBCE B3GALNT2
7 microcephaly 9.5 TBCE B3GALNT2

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 11:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type a, 11

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 11:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 HP:0000238
2 cataract 31 HP:0000518
3 global developmental delay 31 HP:0001263
4 blindness 31 HP:0000618
5 cognitive impairment 31 HP:0100543
6 myopia 31 HP:0000545
7 elevated serum creatine kinase 31 HP:0003236
8 retinal detachment 31 HP:0000541
9 microphthalmia 31 HP:0000568
10 polymicrogyria 31 HP:0002126
11 severe muscular hypotonia 31 HP:0006829
12 cerebellar hypoplasia 31 HP:0001321
13 leukoencephalopathy 31 HP:0002352
14 muscular dystrophy 31 HP:0003560
15 optic nerve hypoplasia 31 HP:0000609
16 hypoplasia of the pons 31 HP:0012110
17 type ii lissencephaly 31 HP:0007260
18 cerebellar dysplasia 31 HP:0007033
19 cerebellar cyst 31 HP:0002350

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hydrocephalus
polymicrogyria
cerebellar dysplasia
delayed psychomotor development, severe
cerebellar cysts
more
Muscle Soft Tissue:
muscular dystrophy
hypotonia, severe
decreased glycosylation of alpha-dystroglycan seen on muscle biopsy

Head And Neck Eyes:
blindness
myopia
retinal detachment
microphthalmia
optic nerve hypoplasia
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

615181 (Updated 20-May-2021)

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 11:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 11 29 B3GALNT2
2 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 29

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 11:

40
Eye, Brain, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 11:

# Title Authors PMID Year
1
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. 6 57
23453667 2013
2
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

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 11:

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

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 11:

72
# Symbol AA change Variation ID SNP ID
1 B3GALNT2 p.Gly247Glu VAR_069638 rs367543072
2 B3GALNT2 p.Val252Gly VAR_069639 rs367543073
3 B3GALNT2 p.Val268Met VAR_069640 rs367543074
4 B3GALNT2 p.Arg292Pro VAR_069641 rs367543076

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 11.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

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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