MCID: MSC167
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type a, 11

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Eye diseases, Metabolic diseases, Fetal 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 73
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 57 13
Mddga11 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A11 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, B3galnt2-Related 57
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease B3galnt2-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in infancy


HPO:

32
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)

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

UniProtKB/Swiss-Prot : 75 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 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

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

Symptoms via clinical synopsis from OMIM:

57
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
optic nerve hypoplasia
microphthalmia
retinal detachment
more
Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

615181

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

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 cataract 32 HP:0000518
3 global developmental delay 32 HP:0001263
4 blindness 32 HP:0000618
5 elevated serum creatine phosphokinase 32 HP:0003236
6 myopia 32 HP:0000545
7 optic nerve hypoplasia 32 HP:0000609
8 cerebellar hypoplasia 32 HP:0001321
9 microphthalmia 32 HP:0000568
10 retinal detachment 32 HP:0000541
11 polymicrogyria 32 HP:0002126
12 muscular dystrophy 32 HP:0003560
13 cerebellar dysplasia 32 HP:0007033
14 hypoplasia of the pons 32 HP:0012110
15 severe muscular hypotonia 32 HP:0006829
16 cerebellar cyst 32 HP:0002350
17 type ii lissencephaly 32 HP:0007260

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

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

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

41
Brain, Eye, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

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

75
# 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

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

6
(show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 B3GALNT2 NM_152490.4(B3GALNT2): c.740G> A (p.Gly247Glu) single nucleotide variant Pathogenic/Likely pathogenic rs367543072 GRCh37 Chromosome 1, 235634186: 235634186
2 B3GALNT2 NM_152490.4(B3GALNT2): c.740G> A (p.Gly247Glu) single nucleotide variant Pathogenic/Likely pathogenic rs367543072 GRCh38 Chromosome 1, 235470872: 235470872
3 B3GALNT2 NM_152490.4(B3GALNT2): c.875G> C (p.Arg292Pro) single nucleotide variant Pathogenic/Likely pathogenic rs367543076 GRCh37 Chromosome 1, 235622061: 235622061
4 B3GALNT2 NM_152490.4(B3GALNT2): c.875G> C (p.Arg292Pro) single nucleotide variant Pathogenic/Likely pathogenic rs367543076 GRCh38 Chromosome 1, 235458753: 235458753
5 B3GALNT2 NM_152490.4(B3GALNT2): c.308_309delTG (p.Val103Glyfs) deletion Pathogenic rs367543070 GRCh37 Chromosome 1, 235652525: 235652526
6 B3GALNT2 NM_152490.4(B3GALNT2): c.308_309delTG (p.Val103Glyfs) deletion Pathogenic rs367543070 GRCh38 Chromosome 1, 235489220: 235489221
7 B3GALNT2 NM_152490.4(B3GALNT2): c.755T> G (p.Val252Gly) single nucleotide variant Pathogenic/Likely pathogenic rs367543073 GRCh37 Chromosome 1, 235634171: 235634171
8 B3GALNT2 NM_152490.4(B3GALNT2): c.755T> G (p.Val252Gly) single nucleotide variant Pathogenic/Likely pathogenic rs367543073 GRCh38 Chromosome 1, 235470857: 235470857
9 B3GALNT2 NM_152490.4(B3GALNT2): c.1423C> T (p.Gln475Ter) single nucleotide variant Pathogenic rs367543077 GRCh37 Chromosome 1, 235613601: 235613601
10 B3GALNT2 NM_152490.4(B3GALNT2): c.1423C> T (p.Gln475Ter) single nucleotide variant Pathogenic rs367543077 GRCh38 Chromosome 1, 235450286: 235450286
11 B3GALNT2 NM_152490.4(B3GALNT2): c.51_73dup23 (p.Ser25Cysfs) duplication Pathogenic rs367543069 GRCh37 Chromosome 1, 235667480: 235667502
12 B3GALNT2 NM_152490.4(B3GALNT2): c.51_73dup23 (p.Ser25Cysfs) duplication Pathogenic rs367543069 GRCh38 Chromosome 1, 235504180: 235504202
13 B3GALNT2 NM_152490.4(B3GALNT2): c.824_825dupTT (p.Ile276Leufs) duplication Pathogenic/Likely pathogenic rs367543075 GRCh37 Chromosome 1, 235628969: 235628970
14 B3GALNT2 NM_152490.4(B3GALNT2): c.824_825dupTT (p.Ile276Leufs) duplication Pathogenic/Likely pathogenic rs367543075 GRCh38 Chromosome 1, 235465652: 235465653
15 B3GALNT2 NM_152490.4(B3GALNT2): c.439G> C (p.Val147Leu) single nucleotide variant Uncertain significance rs143983025 GRCh37 Chromosome 1, 235647754: 235647754
16 B3GALNT2 NM_152490.4(B3GALNT2): c.439G> C (p.Val147Leu) single nucleotide variant Uncertain significance rs143983025 GRCh38 Chromosome 1, 235484438: 235484438
17 B3GALNT2 NM_152490.4(B3GALNT2): c.1438_1455dup18 (p.Trp485_Lys486insGluLeuThrGluLeuTrp) duplication no interpretation for the single variant rs863224849 GRCh37 Chromosome 1, 235613569: 235613586
18 B3GALNT2 NM_152490.4(B3GALNT2): c.1438_1455dup18 (p.Trp485_Lys486insGluLeuThrGluLeuTrp) duplication no interpretation for the single variant rs863224849 GRCh38 Chromosome 1, 235450254: 235450271
19 B3GALNT2 NM_152490.4(B3GALNT2): c.979G> A (p.Asp327Asn) single nucleotide variant no interpretation for the single variant rs753340395 GRCh37 Chromosome 1, 235621957: 235621957
20 B3GALNT2 NM_152490.4(B3GALNT2): c.979G> A (p.Asp327Asn) single nucleotide variant no interpretation for the single variant rs753340395 GRCh38 Chromosome 1, 235458649: 235458649
21 B3GALNT2 NM_152490.4(B3GALNT2): c.152A> G (p.Tyr51Cys) single nucleotide variant Benign rs61742900 GRCh37 Chromosome 1, 235658099: 235658099
22 B3GALNT2 NM_152490.4(B3GALNT2): c.152A> G (p.Tyr51Cys) single nucleotide variant Benign rs61742900 GRCh38 Chromosome 1, 235494789: 235494789
23 B3GALNT2 NM_152490.4(B3GALNT2): c.1215C> T (p.Pro405=) single nucleotide variant Likely benign rs145518904 GRCh37 Chromosome 1, 235617564: 235617564
24 B3GALNT2 NM_152490.4(B3GALNT2): c.1215C> T (p.Pro405=) single nucleotide variant Likely benign rs145518904 GRCh38 Chromosome 1, 235454252: 235454252
25 B3GALNT2 NM_152490.4(B3GALNT2): c.1089C> T (p.Leu363=) single nucleotide variant Likely benign rs1057522976 GRCh37 Chromosome 1, 235618933: 235618933
26 B3GALNT2 NM_152490.4(B3GALNT2): c.1089C> T (p.Leu363=) single nucleotide variant Likely benign rs1057522976 GRCh38 Chromosome 1, 235455621: 235455621
27 B3GALNT2 NM_152490.4(B3GALNT2): c.465C> T (p.Ile155=) single nucleotide variant Benign/Likely benign rs138058326 GRCh37 Chromosome 1, 235647728: 235647728
28 B3GALNT2 NM_152490.4(B3GALNT2): c.465C> T (p.Ile155=) single nucleotide variant Benign/Likely benign rs138058326 GRCh38 Chromosome 1, 235484412: 235484412
29 B3GALNT2 NM_152490.4(B3GALNT2): c.402C> T (p.Asp134=) single nucleotide variant Likely benign rs144848710 GRCh37 Chromosome 1, 235647791: 235647791
30 B3GALNT2 NM_152490.4(B3GALNT2): c.402C> T (p.Asp134=) single nucleotide variant Likely benign rs144848710 GRCh38 Chromosome 1, 235484475: 235484475
31 B3GALNT2 NM_152490.4(B3GALNT2): c.249A> T (p.Thr83=) single nucleotide variant Likely benign rs770930732 GRCh37 Chromosome 1, 235658002: 235658002
32 B3GALNT2 NM_152490.4(B3GALNT2): c.249A> T (p.Thr83=) single nucleotide variant Likely benign rs770930732 GRCh38 Chromosome 1, 235494692: 235494692
33 B3GALNT2 NM_152490.4(B3GALNT2): c.81G> T (p.Pro27=) single nucleotide variant Likely benign rs766891631 GRCh37 Chromosome 1, 235667472: 235667472
34 B3GALNT2 NM_152490.4(B3GALNT2): c.81G> T (p.Pro27=) single nucleotide variant Likely benign rs766891631 GRCh38 Chromosome 1, 235504172: 235504172
35 B3GALNT2 NM_152490.4(B3GALNT2): c.575G> A (p.Arg192His) single nucleotide variant Conflicting interpretations of pathogenicity rs201345883 GRCh38 Chromosome 1, 235480130: 235480130
36 B3GALNT2 NM_152490.4(B3GALNT2): c.575G> A (p.Arg192His) single nucleotide variant Conflicting interpretations of pathogenicity rs201345883 GRCh37 Chromosome 1, 235643446: 235643446
37 B3GALNT2 NM_152490.4(B3GALNT2): c.410C> T (p.Ser137Leu) single nucleotide variant Uncertain significance rs140393851 GRCh37 Chromosome 1, 235647783: 235647783
38 B3GALNT2 NM_152490.4(B3GALNT2): c.410C> T (p.Ser137Leu) single nucleotide variant Uncertain significance rs140393851 GRCh38 Chromosome 1, 235484467: 235484467
39 B3GALNT2 NM_152490.4(B3GALNT2): c.959T> C (p.Ile320Thr) single nucleotide variant Uncertain significance rs148808160 GRCh38 Chromosome 1, 235458669: 235458669
40 B3GALNT2 NM_152490.4(B3GALNT2): c.959T> C (p.Ile320Thr) single nucleotide variant Uncertain significance rs148808160 GRCh37 Chromosome 1, 235621977: 235621977
41 B3GALNT2 NM_152490.4(B3GALNT2): c.397G> A (p.Glu133Lys) single nucleotide variant Benign/Likely benign rs146090744 GRCh37 Chromosome 1, 235647796: 235647796
42 B3GALNT2 NM_152490.4(B3GALNT2): c.397G> A (p.Glu133Lys) single nucleotide variant Benign/Likely benign rs146090744 GRCh38 Chromosome 1, 235484480: 235484480
43 B3GALNT2 NM_152490.4(B3GALNT2): c.321G> A (p.Glu107=) single nucleotide variant Likely benign rs291396 GRCh38 Chromosome 1, 235489208: 235489208
44 B3GALNT2 NM_152490.4(B3GALNT2): c.321G> A (p.Glu107=) single nucleotide variant Likely benign rs291396 GRCh37 Chromosome 1, 235652513: 235652513
45 B3GALNT2 NM_152490.4(B3GALNT2): c.1108A> T (p.Ile370Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 235618914: 235618914
46 B3GALNT2 NM_152490.4(B3GALNT2): c.1108A> T (p.Ile370Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 235455602: 235455602
47 B3GALNT2 NM_152490.4(B3GALNT2): c.259C> G (p.Arg87Gly) single nucleotide variant Uncertain significance rs747653180 GRCh37 Chromosome 1, 235657992: 235657992
48 B3GALNT2 NM_152490.4(B3GALNT2): c.259C> G (p.Arg87Gly) single nucleotide variant Uncertain significance rs747653180 GRCh38 Chromosome 1, 235494682: 235494682
49 B3GALNT2 NM_152490.4(B3GALNT2): c.43G> A (p.Ala15Thr) single nucleotide variant Uncertain significance rs997345764 GRCh37 Chromosome 1, 235667510: 235667510
50 B3GALNT2 NM_152490.4(B3GALNT2): c.43G> A (p.Ala15Thr) single nucleotide variant Uncertain significance rs997345764 GRCh38 Chromosome 1, 235504210: 235504210

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

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