MDDGA13
MCID: MSC105
MIFTS: 26

Muscular Dystrophy-Dystroglycanopathy , Type a, 13 (MDDGA13)

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, 13

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 13 57 75 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 seizures and muscle spasticity. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 13 is B4GAT1 (Beta-1,4-Glucuronyltransferase 1). Affiliated tissues include eye, brain 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 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, 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 25)
# 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 severe muscular hypotonia 32 HP:0006829
17 micropenis 32 HP:0000054
18 heterotopia 32 HP:0002282
19 renal cyst 32 occasional (7.5%) HP:0000107
20 occipital encephalocele 32 HP:0002085
21 cortical dysplasia 32 HP:0002539
22 renal dysplasia 32 occasional (7.5%) HP:0000110
23 optic nerve dysplasia 32 HP:0001093
24 type ii lissencephaly 32 HP:0007260
25 hypoplasia of the brainstem 32 HP:0002365

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


seizures, muscle spasticity

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
Eye, Brain, 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 top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 B4GAT1 NM_006876.2(B4GAT1): c.1217C> T (p.Ala406Val) single nucleotide variant no interpretation for the single variant rs397509396 GRCh37 Chromosome 11, 66113551: 66113551
2 B4GAT1 NM_006876.2(B4GAT1): c.1217C> T (p.Ala406Val) single nucleotide variant no interpretation for the single variant rs397509396 GRCh38 Chromosome 11, 66346080: 66346080
3 B4GAT1 NM_006876.2(B4GAT1): c.1168A> G (p.Asn390Asp) single nucleotide variant no interpretation for the single variant rs397509397 GRCh37 Chromosome 11, 66113600: 66113600
4 B4GAT1 NM_006876.2(B4GAT1): c.1168A> G (p.Asn390Asp) single nucleotide variant no interpretation for the single variant rs397509397 GRCh38 Chromosome 11, 66346129: 66346129
5 B4GAT1 NM_006876.2(B4GAT1): c.821_822insTT (p.Glu274Aspfs) insertion Pathogenic/Likely pathogenic rs730882237 GRCh38 Chromosome 11, 66346724: 66346725
6 B4GAT1 NM_006876.2(B4GAT1): c.821_822insTT (p.Glu274Aspfs) insertion Pathogenic/Likely pathogenic rs730882237 GRCh37 Chromosome 11, 66114195: 66114196
7 B4GAT1 NM_006876.2(B4GAT1): c.1136C> G (p.Ala379Gly) single nucleotide variant Uncertain significance rs1012499887 GRCh38 Chromosome 11, 66346161: 66346161
8 B4GAT1 NM_006876.2(B4GAT1): c.1136C> G (p.Ala379Gly) single nucleotide variant Uncertain significance rs1012499887 GRCh37 Chromosome 11, 66113632: 66113632
9 B4GAT1 NM_006876.2(B4GAT1): c.987C> T (p.Tyr329=) single nucleotide variant Benign/Likely benign rs1190625 GRCh38 Chromosome 11, 66346559: 66346559
10 B4GAT1 NM_006876.2(B4GAT1): c.987C> T (p.Tyr329=) single nucleotide variant Benign/Likely benign rs1190625 GRCh37 Chromosome 11, 66114030: 66114030
11 B4GAT1 NM_006876.2(B4GAT1): c.828G> T (p.Val276=) single nucleotide variant Benign/Likely benign rs142956522 GRCh38 Chromosome 11, 66346718: 66346718
12 B4GAT1 NM_006876.2(B4GAT1): c.828G> T (p.Val276=) single nucleotide variant Benign/Likely benign rs142956522 GRCh37 Chromosome 11, 66114189: 66114189
13 B4GAT1 NM_006876.2(B4GAT1): c.196G> A (p.Ala66Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs765114036 GRCh38 Chromosome 11, 66347350: 66347350
14 B4GAT1 NM_006876.2(B4GAT1): c.196G> A (p.Ala66Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs765114036 GRCh37 Chromosome 11, 66114821: 66114821
15 B4GAT1 NM_006876.2(B4GAT1): c.69G> C (p.Ala23=) single nucleotide variant Likely benign rs146812867 GRCh38 Chromosome 11, 66347477: 66347477
16 B4GAT1 NM_006876.2(B4GAT1): c.69G> C (p.Ala23=) single nucleotide variant Likely benign rs146812867 GRCh37 Chromosome 11, 66114948: 66114948
17 B4GAT1 NM_006876.2(B4GAT1): c.1161G> A (p.Glu387=) single nucleotide variant Benign rs139287952 GRCh38 Chromosome 11, 66346136: 66346136
18 B4GAT1 NM_006876.2(B4GAT1): c.1161G> A (p.Glu387=) single nucleotide variant Benign rs139287952 GRCh37 Chromosome 11, 66113607: 66113607
19 B4GAT1 NM_006876.2(B4GAT1): c.1009A> T (p.Thr337Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 66346537: 66346537
20 B4GAT1 NM_006876.2(B4GAT1): c.1009A> T (p.Thr337Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 66114008: 66114008
21 B4GAT1 NM_006876.2(B4GAT1): c.780C> T (p.Phe260=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 66346766: 66346766
22 B4GAT1 NM_006876.2(B4GAT1): c.780C> T (p.Phe260=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 66114237: 66114237
23 B4GAT1 NM_006876.2(B4GAT1): c.980C> A (p.Pro327Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 66346566: 66346566
24 B4GAT1 NM_006876.2(B4GAT1): c.980C> A (p.Pro327Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 66114037: 66114037
25 B4GAT1 NM_006876.2(B4GAT1): c.460G> T (p.Ala154Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 66347086: 66347086
26 B4GAT1 NM_006876.2(B4GAT1): c.460G> T (p.Ala154Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 66114557: 66114557
27 B4GAT1 NM_006876.2(B4GAT1): c.173A> G (p.Gln58Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 66347373: 66347373
28 B4GAT1 NM_006876.2(B4GAT1): c.173A> G (p.Gln58Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 66114844: 66114844
29 B4GAT1 NM_006876.2(B4GAT1): c.1056+6C> G single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 11, 66113955: 66113955
30 B4GAT1 NM_006876.2(B4GAT1): c.1056+6C> G single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 11, 66346484: 66346484
31 B4GAT1 NM_006876.2(B4GAT1): c.170A> C (p.Asp57Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 66347376: 66347376
32 B4GAT1 NM_006876.2(B4GAT1): c.170A> C (p.Asp57Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 66114847: 66114847
33 B4GAT1 NM_006876.2(B4GAT1): c.665A> G (p.Tyr222Cys) single nucleotide variant Uncertain significance rs113570160 GRCh38 Chromosome 11, 66346881: 66346881
34 B4GAT1 NM_006876.2(B4GAT1): c.665A> G (p.Tyr222Cys) single nucleotide variant Uncertain significance rs113570160 GRCh37 Chromosome 11, 66114352: 66114352
35 B4GAT1 NM_006876.2(B4GAT1): c.1146C> G (p.Phe382Leu) single nucleotide variant Uncertain significance rs143223962 GRCh38 Chromosome 11, 66346151: 66346151
36 B4GAT1 NM_006876.2(B4GAT1): c.1146C> G (p.Phe382Leu) single nucleotide variant Uncertain significance rs143223962 GRCh37 Chromosome 11, 66113622: 66113622
37 B4GAT1 NM_006876.2(B4GAT1): c.582G> C (p.Gln194His) single nucleotide variant Uncertain significance rs377415983 GRCh38 Chromosome 11, 66346964: 66346964
38 B4GAT1 NM_006876.2(B4GAT1): c.582G> C (p.Gln194His) single nucleotide variant Uncertain significance rs377415983 GRCh37 Chromosome 11, 66114435: 66114435
39 B4GAT1 NM_006876.2(B4GAT1): c.220G> A (p.Asp74Asn) single nucleotide variant Uncertain significance rs746966446 GRCh37 Chromosome 11, 66114797: 66114797
40 B4GAT1 NM_006876.2(B4GAT1): c.220G> A (p.Asp74Asn) single nucleotide variant Uncertain significance rs746966446 GRCh38 Chromosome 11, 66347326: 66347326
41 B4GAT1 NM_006876.2(B4GAT1): c.521G> T (p.Gly174Val) single nucleotide variant Uncertain significance rs771427950 GRCh38 Chromosome 11, 66347025: 66347025
42 B4GAT1 NM_006876.2(B4GAT1): c.521G> T (p.Gly174Val) single nucleotide variant Uncertain significance rs771427950 GRCh37 Chromosome 11, 66114496: 66114496
43 B4GAT1 NM_006876.2(B4GAT1): c.447G> C (p.Met149Ile) single nucleotide variant Uncertain significance rs374533716 GRCh38 Chromosome 11, 66347099: 66347099
44 B4GAT1 NM_006876.2(B4GAT1): c.447G> C (p.Met149Ile) single nucleotide variant Uncertain significance rs374533716 GRCh37 Chromosome 11, 66114570: 66114570
45 B4GAT1 NM_006876.2(B4GAT1): c.278A> G (p.Asn93Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 66347268: 66347268
46 B4GAT1 NM_006876.2(B4GAT1): c.278A> G (p.Asn93Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 66114739: 66114739
47 B4GAT1 NM_006876.2(B4GAT1): c.415G> T (p.Ala139Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 66114602: 66114602
48 B4GAT1 NM_006876.2(B4GAT1): c.415G> T (p.Ala139Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 66347131: 66347131
49 B4GAT1 NM_006876.2(B4GAT1): c.688A> G (p.Met230Val) single nucleotide variant Uncertain significance rs774850290 GRCh38 Chromosome 11, 66346858: 66346858
50 B4GAT1 NM_006876.2(B4GAT1): c.688A> G (p.Met230Val) single nucleotide variant Uncertain significance rs774850290 GRCh37 Chromosome 11, 66114329: 66114329

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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