MCID: MSC105
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type a, 13

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, 13

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 13:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 13 57 29 6 73
Mddga13 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A13 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, B3gnt1-Related 57
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease B3gnt1-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
early death
two unrelated families have been reported (last curated february 2017)


HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 13:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

OMIM : 57 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. 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 Buysse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (615287)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 13, is also known as mddga13, and has symptoms including muscle spasticity and seizures. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 13 is B4GAT1 (Beta-1,4-Glucuronyltransferase 1). Affiliated tissues include brain, eye and kidney, and related phenotypes are agenesis of corpus callosum and hydrocephalus

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13: 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, 13

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, 13

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
seizures
spasticity
cerebellar hypoplasia
dandy-walker malformation
more
Genitourinary Kidneys:
hydronephrosis
renal cysts
dysplastic kidneys

Genitourinary External Genitalia Male:
micropenis
testicular hypoplasia

Head And Neck Eyes:
blindness
retinal dysplasia
optic nerve dysplasia
cloudy corneas

Muscle Soft Tissue:
muscular dystrophy
hypotonia, severe
decreased glycosylation of alpha-dystroglycan seen on muscle biopsy

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

615287

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 13:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 hydrocephalus 32 HP:0000238
3 seizures 32 HP:0001250
4 spasticity 32 HP:0001257
5 global developmental delay 32 HP:0001263
6 blindness 32 HP:0000618
7 elevated serum creatine phosphokinase 32 HP:0003236
8 opacification of the corneal stroma 32 HP:0007759
9 cerebellar hypoplasia 32 HP:0001321
10 decreased testicular size 32 occasional (7.5%) HP:0008734
11 retinal dysplasia 32 HP:0007973
12 hydronephrosis 32 HP:0000126
13 dandy-walker malformation 32 HP:0001305
14 anencephaly 32 HP:0002323
15 muscular dystrophy 32 HP:0003560
16 micropenis 32 HP:0000054
17 renal cyst 32 occasional (7.5%) HP:0000107
18 occipital encephalocele 32 HP:0002085
19 cortical dysplasia 32 HP:0002539
20 renal dysplasia 32 occasional (7.5%) HP:0000110
21 optic nerve dysplasia 32 HP:0001093
22 severe muscular hypotonia 32 HP:0006829
23 type ii lissencephaly 32 HP:0007260
24 hypoplasia of the brainstem 32 HP:0002365

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type a, 13:


muscle spasticity, seizures

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 13:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 13 29 B4GAT1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 13:

41
Brain, Eye, Kidney

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 13:

75
# Symbol AA change Variation ID SNP ID
1 B4GAT1 p.Asn390Asp VAR_069989 rs397509397
2 B4GAT1 p.Ala406Val VAR_069990 rs397509396

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 13:

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 B4GAT1 NM_006876.2(B4GAT1): c.821_822insTT (p.Glu274Aspfs) insertion Pathogenic/Likely pathogenic rs730882237 GRCh38 Chromosome 11, 66346724: 66346725
2 B4GAT1 NM_006876.2(B4GAT1): c.821_822insTT (p.Glu274Aspfs) insertion Pathogenic/Likely pathogenic rs730882237 GRCh37 Chromosome 11, 66114195: 66114196
3 B4GAT1 NM_006876.2(B4GAT1): c.987C> T (p.Tyr329=) single nucleotide variant Benign/Likely benign rs1190625 GRCh38 Chromosome 11, 66346559: 66346559
4 B4GAT1 NM_006876.2(B4GAT1): c.987C> T (p.Tyr329=) single nucleotide variant Benign/Likely benign rs1190625 GRCh37 Chromosome 11, 66114030: 66114030
5 B4GAT1 NM_006876.2(B4GAT1): c.828G> T (p.Val276=) single nucleotide variant Benign/Likely benign rs142956522 GRCh38 Chromosome 11, 66346718: 66346718
6 B4GAT1 NM_006876.2(B4GAT1): c.828G> T (p.Val276=) single nucleotide variant Benign/Likely benign rs142956522 GRCh37 Chromosome 11, 66114189: 66114189
7 B4GAT1 NM_006876.2(B4GAT1): c.196G> A (p.Ala66Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs765114036 GRCh38 Chromosome 11, 66347350: 66347350
8 B4GAT1 NM_006876.2(B4GAT1): c.196G> A (p.Ala66Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs765114036 GRCh37 Chromosome 11, 66114821: 66114821
9 B4GAT1 NM_006876.2(B4GAT1): c.69G> C (p.Ala23=) single nucleotide variant Likely benign rs146812867 GRCh38 Chromosome 11, 66347477: 66347477
10 B4GAT1 NM_006876.2(B4GAT1): c.69G> C (p.Ala23=) single nucleotide variant Likely benign rs146812867 GRCh37 Chromosome 11, 66114948: 66114948
11 B4GAT1 NM_006876.2(B4GAT1): c.1161G> A (p.Glu387=) single nucleotide variant Benign rs139287952 GRCh38 Chromosome 11, 66346136: 66346136
12 B4GAT1 NM_006876.2(B4GAT1): c.1161G> A (p.Glu387=) single nucleotide variant Benign rs139287952 GRCh37 Chromosome 11, 66113607: 66113607
13 B4GAT1 NM_006876.2(B4GAT1): c.1009A> T (p.Thr337Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 66346537: 66346537
14 B4GAT1 NM_006876.2(B4GAT1): c.1009A> T (p.Thr337Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 66114008: 66114008
15 B4GAT1 NM_006876.2(B4GAT1): c.780C> T (p.Phe260=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 66346766: 66346766
16 B4GAT1 NM_006876.2(B4GAT1): c.780C> T (p.Phe260=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 66114237: 66114237
17 B4GAT1 NM_006876.2(B4GAT1): c.980C> A (p.Pro327Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 66346566: 66346566
18 B4GAT1 NM_006876.2(B4GAT1): c.980C> A (p.Pro327Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 66114037: 66114037
19 B4GAT1 NM_006876.2(B4GAT1): c.460G> T (p.Ala154Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 66114557: 66114557
20 B4GAT1 NM_006876.2(B4GAT1): c.460G> T (p.Ala154Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 66347086: 66347086
21 B4GAT1 NM_006876.2(B4GAT1): c.173A> G (p.Gln58Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 66347373: 66347373
22 B4GAT1 NM_006876.2(B4GAT1): c.173A> G (p.Gln58Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 66114844: 66114844
23 B4GAT1 NM_006876.2(B4GAT1): c.1056+6C> G single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 11, 66113955: 66113955
24 B4GAT1 NM_006876.2(B4GAT1): c.1056+6C> G single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 11, 66346484: 66346484
25 B4GAT1 NM_006876.2(B4GAT1): c.170A> C (p.Asp57Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 66347376: 66347376
26 B4GAT1 NM_006876.2(B4GAT1): c.170A> C (p.Asp57Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 66114847: 66114847
27 B4GAT1 NM_006876.2(B4GAT1): c.665A> G (p.Tyr222Cys) single nucleotide variant Uncertain significance rs113570160 GRCh37 Chromosome 11, 66114352: 66114352
28 B4GAT1 NM_006876.2(B4GAT1): c.665A> G (p.Tyr222Cys) single nucleotide variant Uncertain significance rs113570160 GRCh38 Chromosome 11, 66346881: 66346881
29 B4GAT1 NM_006876.2(B4GAT1): c.1146C> G (p.Phe382Leu) single nucleotide variant Uncertain significance rs143223962 GRCh38 Chromosome 11, 66346151: 66346151
30 B4GAT1 NM_006876.2(B4GAT1): c.1146C> G (p.Phe382Leu) single nucleotide variant Uncertain significance rs143223962 GRCh37 Chromosome 11, 66113622: 66113622
31 B4GAT1 NM_006876.2(B4GAT1): c.582G> C (p.Gln194His) single nucleotide variant Uncertain significance rs377415983 GRCh38 Chromosome 11, 66346964: 66346964
32 B4GAT1 NM_006876.2(B4GAT1): c.582G> C (p.Gln194His) single nucleotide variant Uncertain significance rs377415983 GRCh37 Chromosome 11, 66114435: 66114435
33 B4GAT1 NM_006876.2(B4GAT1): c.220G> A (p.Asp74Asn) single nucleotide variant Uncertain significance rs746966446 GRCh38 Chromosome 11, 66347326: 66347326
34 B4GAT1 NM_006876.2(B4GAT1): c.220G> A (p.Asp74Asn) single nucleotide variant Uncertain significance rs746966446 GRCh37 Chromosome 11, 66114797: 66114797

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 13.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

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