MDDGA11
MCID: MSC167
MIFTS: 25

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 58 30 6 74
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 58 76 13
Mddga11 58 76
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A11 76
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, B3galnt2-Related 58
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease B3galnt2-Related 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in infancy


HPO:

33
muscular dystrophy-dystroglycanopathy , type a, 11:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

OMIM : 58 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 eye, brain and pons, and related phenotypes are hydrocephalus and cataract

UniProtKB/Swiss-Prot : 76 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

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

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

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 33 HP:0000238
2 cataract 33 HP:0000518
3 global developmental delay 33 HP:0001263
4 blindness 33 HP:0000618
5 cognitive impairment 33 HP:0100543
6 myopia 33 HP:0000545
7 optic nerve hypoplasia 33 HP:0000609
8 cerebellar hypoplasia 33 HP:0001321
9 microphthalmia 33 HP:0000568
10 retinal detachment 33 HP:0000541
11 polymicrogyria 33 HP:0002126
12 severe muscular hypotonia 33 HP:0006829
13 cerebellar dysplasia 33 HP:0007033
14 muscular dystrophy 33 HP:0003560
15 hypoplasia of the pons 33 HP:0012110
16 leukoencephalopathy 33 HP:0002352
17 cerebellar cyst 33 HP:0002350
18 type ii lissencephaly 33 HP:0007260
19 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

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 30 B3GALNT2

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

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

42
Eye, Brain, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

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

# Title Authors Year
1
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. ( 23453667 )
2013

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 11

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

76
# 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 105)
# 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_309del (p.Val103Glyfs) deletion Pathogenic rs367543070 GRCh37 Chromosome 1, 235652525: 235652526
6 B3GALNT2 NM_152490.4(B3GALNT2): c.308_309del (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.802G> A (p.Val268Met) single nucleotide variant Uncertain significance rs367543074 GRCh37 Chromosome 1, 235628992: 235628992
10 B3GALNT2 NM_152490.4(B3GALNT2): c.802G> A (p.Val268Met) single nucleotide variant Uncertain significance rs367543074 GRCh38 Chromosome 1, 235465675: 235465675
11 B3GALNT2 NM_152490.4(B3GALNT2): c.1423C> T (p.Gln475Ter) single nucleotide variant Pathogenic rs367543077 GRCh37 Chromosome 1, 235613601: 235613601
12 B3GALNT2 NM_152490.4(B3GALNT2): c.1423C> T (p.Gln475Ter) single nucleotide variant Pathogenic rs367543077 GRCh38 Chromosome 1, 235450286: 235450286
13 B3GALNT2 NM_152490.4(B3GALNT2): c.51_73dup23 (p.Ser25Cysfs) duplication Pathogenic rs367543069 GRCh37 Chromosome 1, 235667480: 235667502
14 B3GALNT2 NM_152490.4(B3GALNT2): c.51_73dup23 (p.Ser25Cysfs) duplication Pathogenic rs367543069 GRCh38 Chromosome 1, 235504180: 235504202
15 B3GALNT2 NM_152490.4(B3GALNT2): c.824_825dupTT (p.Ile276Leufs) duplication Pathogenic/Likely pathogenic rs367543075 GRCh37 Chromosome 1, 235628969: 235628970
16 B3GALNT2 NM_152490.4(B3GALNT2): c.824_825dupTT (p.Ile276Leufs) duplication Pathogenic/Likely pathogenic rs367543075 GRCh38 Chromosome 1, 235465652: 235465653
17 B3GALNT2 NM_152490.4(B3GALNT2): c.439G> C (p.Val147Leu) single nucleotide variant Uncertain significance rs143983025 GRCh37 Chromosome 1, 235647754: 235647754
18 B3GALNT2 NM_152490.4(B3GALNT2): c.439G> C (p.Val147Leu) single nucleotide variant Uncertain significance rs143983025 GRCh38 Chromosome 1, 235484438: 235484438
19 B3GALNT2 NM_152490.4(B3GALNT2): c.152A> G (p.Tyr51Cys) single nucleotide variant Benign rs61742900 GRCh37 Chromosome 1, 235658099: 235658099
20 B3GALNT2 NM_152490.4(B3GALNT2): c.152A> G (p.Tyr51Cys) single nucleotide variant Benign rs61742900 GRCh38 Chromosome 1, 235494789: 235494789
21 B3GALNT2 NM_152490.4(B3GALNT2): c.1215C> T (p.Pro405=) single nucleotide variant Likely benign rs145518904 GRCh37 Chromosome 1, 235617564: 235617564
22 B3GALNT2 NM_152490.4(B3GALNT2): c.1215C> T (p.Pro405=) single nucleotide variant Likely benign rs145518904 GRCh38 Chromosome 1, 235454252: 235454252
23 B3GALNT2 NM_152490.4(B3GALNT2): c.1089C> T (p.Leu363=) single nucleotide variant Likely benign rs1057522976 GRCh37 Chromosome 1, 235618933: 235618933
24 B3GALNT2 NM_152490.4(B3GALNT2): c.1089C> T (p.Leu363=) single nucleotide variant Likely benign rs1057522976 GRCh38 Chromosome 1, 235455621: 235455621
25 B3GALNT2 NM_152490.4(B3GALNT2): c.466G> A (p.Val156Ile) single nucleotide variant Uncertain significance rs151133469 GRCh37 Chromosome 1, 235647727: 235647727
26 B3GALNT2 NM_152490.4(B3GALNT2): c.466G> A (p.Val156Ile) single nucleotide variant Uncertain significance rs151133469 GRCh38 Chromosome 1, 235484411: 235484411
27 B3GALNT2 NM_152490.4(B3GALNT2): c.465C> T (p.Ile155=) single nucleotide variant Benign/Likely benign rs138058326 GRCh38 Chromosome 1, 235484412: 235484412
28 B3GALNT2 NM_152490.4(B3GALNT2): c.465C> T (p.Ile155=) single nucleotide variant Benign/Likely benign rs138058326 GRCh37 Chromosome 1, 235647728: 235647728
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.727G> C (p.Val243Leu) single nucleotide variant Uncertain significance rs755405777 GRCh37 Chromosome 1, 235634199: 235634199
38 B3GALNT2 NM_152490.4(B3GALNT2): c.727G> C (p.Val243Leu) single nucleotide variant Uncertain significance rs755405777 GRCh38 Chromosome 1, 235470885: 235470885
39 B3GALNT2 NM_152490.4(B3GALNT2): c.410C> T (p.Ser137Leu) single nucleotide variant Uncertain significance rs140393851 GRCh37 Chromosome 1, 235647783: 235647783
40 B3GALNT2 NM_152490.4(B3GALNT2): c.410C> T (p.Ser137Leu) single nucleotide variant Uncertain significance rs140393851 GRCh38 Chromosome 1, 235484467: 235484467
41 B3GALNT2 NM_152490.4(B3GALNT2): c.959T> C (p.Ile320Thr) single nucleotide variant Uncertain significance rs148808160 GRCh37 Chromosome 1, 235621977: 235621977
42 B3GALNT2 NM_152490.4(B3GALNT2): c.959T> C (p.Ile320Thr) single nucleotide variant Uncertain significance rs148808160 GRCh38 Chromosome 1, 235458669: 235458669
43 B3GALNT2 NM_152490.4(B3GALNT2): c.397G> A (p.Glu133Lys) single nucleotide variant Benign/Likely benign rs146090744 GRCh37 Chromosome 1, 235647796: 235647796
44 B3GALNT2 NM_152490.4(B3GALNT2): c.397G> A (p.Glu133Lys) single nucleotide variant Benign/Likely benign rs146090744 GRCh38 Chromosome 1, 235484480: 235484480
45 B3GALNT2 NM_152490.4(B3GALNT2): c.321G> A (p.Glu107=) single nucleotide variant Likely benign rs291396 GRCh37 Chromosome 1, 235652513: 235652513
46 B3GALNT2 NM_152490.4(B3GALNT2): c.321G> A (p.Glu107=) single nucleotide variant Likely benign rs291396 GRCh38 Chromosome 1, 235489208: 235489208
47 B3GALNT2 NM_152490.4(B3GALNT2): c.1108A> T (p.Ile370Phe) single nucleotide variant Uncertain significance rs1553342963 GRCh37 Chromosome 1, 235618914: 235618914
48 B3GALNT2 NM_152490.4(B3GALNT2): c.1108A> T (p.Ile370Phe) single nucleotide variant Uncertain significance rs1553342963 GRCh38 Chromosome 1, 235455602: 235455602
49 B3GALNT2 NM_152490.4(B3GALNT2): c.259C> G (p.Arg87Gly) single nucleotide variant Uncertain significance rs747653180 GRCh37 Chromosome 1, 235657992: 235657992
50 B3GALNT2 NM_152490.4(B3GALNT2): c.259C> G (p.Arg87Gly) single nucleotide variant Uncertain significance rs747653180 GRCh38 Chromosome 1, 235494682: 235494682

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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