MDDGA13
MCID: MSC105
MIFTS: 27

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 72 29 6 70
Mddga13 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A13 72
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, B3gnt1-Related 57
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease B3gnt1-Related 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 13:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


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) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 13, also known as mddga13, is related to congenital muscular dystrophy-dystroglycanopathy type a13, 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 and brain, and related phenotypes are decreased testicular size and renal cyst

UniProtKB/Swiss-Prot : 72 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
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, 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a13 11.0

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

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

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 decreased testicular size 31 occasional (7.5%) HP:0008734
2 renal cyst 31 occasional (7.5%) HP:0000107
3 renal dysplasia 31 occasional (7.5%) HP:0000110
4 spasticity 31 HP:0001257
5 agenesis of corpus callosum 31 HP:0001274
6 hydrocephalus 31 HP:0000238
7 global developmental delay 31 HP:0001263
8 blindness 31 HP:0000618
9 opacification of the corneal stroma 31 HP:0007759
10 elevated serum creatine kinase 31 HP:0003236
11 micropenis 31 HP:0000054
12 hydronephrosis 31 HP:0000126
13 dandy-walker malformation 31 HP:0001305
14 severe muscular hypotonia 31 HP:0006829
15 cerebellar hypoplasia 31 HP:0001321
16 anencephaly 31 HP:0002323
17 muscular dystrophy 31 HP:0003560
18 gray matter heterotopia 31 HP:0002282
19 occipital encephalocele 31 HP:0002085
20 retinal dysplasia 31 HP:0007973
21 optic nerve dysplasia 31 HP:0001093
22 type ii lissencephaly 31 HP:0007260
23 cortical dysplasia 31 HP:0002539
24 hypoplasia of the brainstem 31 HP:0002365
25 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
spasticity
hydrocephalus
dandy-walker malformation
cerebellar hypoplasia
more
Genitourinary External Genitalia Male:
micropenis
testicular hypoplasia

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

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

Genitourinary Kidneys:
hydronephrosis
renal cysts
dysplastic kidneys

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

615287 (Updated 05-Apr-2021)

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:

40
Eye, Brain

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 13:

# Title Authors PMID Year
1
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. 6 57
23877401 2013
2
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. 57 6
23359570 2013

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

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

6 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B4GAT1 NM_006876.3(B4GAT1):c.1217C>T (p.Ala406Val) SNV Pathogenic 51008 rs397509396 GRCh37: 11:66113551-66113551
GRCh38: 11:66346080-66346080
2 B4GAT1 NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) Insertion Pathogenic 183334 rs730882237 GRCh37: 11:66114195-66114196
GRCh38: 11:66346724-66346725
3 B4GAT1 NM_006876.3(B4GAT1):c.1056+6C>G SNV Uncertain significance 507234 rs1555016387 GRCh37: 11:66113955-66113955
GRCh38: 11:66346484-66346484
4 B4GAT1 NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly) SNV Uncertain significance 423075 rs1012499887 GRCh37: 11:66113632-66113632
GRCh38: 11:66346161-66346161
5 B4GAT1 NM_006876.3(B4GAT1):c.460G>T (p.Ala154Ser) SNV Uncertain significance 474250 rs1555016589 GRCh37: 11:66114557-66114557
GRCh38: 11:66347086-66347086
6 B4GAT1 NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln) SNV Uncertain significance 474252 rs1555016420 GRCh37: 11:66114037-66114037
GRCh38: 11:66346566-66346566
7 B4GAT1 NM_006876.3(B4GAT1):c.1009A>T (p.Thr337Ser) SNV Uncertain significance 474247 rs1555016408 GRCh37: 11:66114008-66114008
GRCh38: 11:66346537-66346537
8 B4GAT1 NM_006876.3(B4GAT1):c.582G>C (p.Gln194His) SNV Uncertain significance 541278 rs377415983 GRCh37: 11:66114435-66114435
GRCh38: 11:66346964-66346964
9 B4GAT1 NM_006876.3(B4GAT1):c.511C>A (p.Arg171=) SNV Uncertain significance 645033 rs750370418 GRCh37: 11:66114506-66114506
GRCh38: 11:66347035-66347035
10 B4GAT1 NM_006876.3(B4GAT1):c.1022G>A (p.Arg341His) SNV Uncertain significance 648835 rs770685607 GRCh37: 11:66113995-66113995
GRCh38: 11:66346524-66346524
11 B4GAT1 NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln) SNV Uncertain significance 664063 rs761732914 GRCh37: 11:66114503-66114503
GRCh38: 11:66347032-66347032
12 B4GAT1 NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu) SNV Uncertain significance 664213 rs368961025 GRCh37: 11:66114033-66114033
GRCh38: 11:66346562-66346562
13 B4GAT1 NM_006876.3(B4GAT1):c.1096C>A (p.Leu366Met) SNV Uncertain significance 940793 GRCh37: 11:66113672-66113672
GRCh38: 11:66346201-66346201
14 B4GAT1 NM_006876.3(B4GAT1):c.173A>G (p.Gln58Arg) SNV Uncertain significance 474249 rs1555016650 GRCh37: 11:66114844-66114844
GRCh38: 11:66347373-66347373
15 B4GAT1 NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys) SNV Uncertain significance 541277 rs113570160 GRCh37: 11:66114352-66114352
GRCh38: 11:66346881-66346881
16 B4GAT1 NM_006876.3(B4GAT1):c.170A>C (p.Asp57Ala) SNV Uncertain significance 541279 rs1555016653 GRCh37: 11:66114847-66114847
GRCh38: 11:66347376-66347376
17 B4GAT1 NM_006876.3(B4GAT1):c.37C>T (p.Gln13Ter) SNV Uncertain significance 567512 rs767082700 GRCh37: 11:66114980-66114980
GRCh38: 11:66347509-66347509
18 B4GAT1 NM_006876.3(B4GAT1):c.278A>G (p.Asn93Ser) SNV Uncertain significance 574656 rs1332907515 GRCh37: 11:66114739-66114739
GRCh38: 11:66347268-66347268
19 B4GAT1 NM_006876.3(B4GAT1):c.521G>T (p.Gly174Val) SNV Uncertain significance 578254 rs771427950 GRCh37: 11:66114496-66114496
GRCh38: 11:66347025-66347025
20 B4GAT1 NM_006876.3(B4GAT1):c.415G>T (p.Ala139Ser) SNV Uncertain significance 578832 rs1565209689 GRCh37: 11:66114602-66114602
GRCh38: 11:66347131-66347131
21 B4GAT1 NM_006876.3(B4GAT1):c.688A>G (p.Met230Val) SNV Uncertain significance 580290 rs774850290 GRCh37: 11:66114329-66114329
GRCh38: 11:66346858-66346858
22 B4GAT1 NM_006876.3(B4GAT1):c.485G>A (p.Arg162His) SNV Uncertain significance 580561 rs1565209634 GRCh37: 11:66114532-66114532
GRCh38: 11:66347061-66347061
23 B4GAT1 NM_006876.3(B4GAT1):c.226A>G (p.Ser76Gly) SNV Uncertain significance 426572 rs1085307691 GRCh37: 11:66114791-66114791
GRCh38: 11:66347320-66347320
24 B4GAT1 NM_006876.3(B4GAT1):c.772C>G (p.Pro258Ala) SNV Uncertain significance 849580 GRCh37: 11:66114245-66114245
GRCh38: 11:66346774-66346774
25 B4GAT1 NM_006876.3(B4GAT1):c.157C>T (p.Pro53Ser) SNV Uncertain significance 967400 GRCh37: 11:66114860-66114860
GRCh38: 11:66347389-66347389
26 B4GAT1 NM_006876.3(B4GAT1):c.895A>G (p.Thr299Ala) SNV Uncertain significance 968205 GRCh37: 11:66114122-66114122
GRCh38: 11:66346651-66346651
27 B4GAT1 NM_006876.3(B4GAT1):c.377C>T (p.Ala126Val) SNV Uncertain significance 546525 rs1161795181 GRCh37: 11:66114640-66114640
GRCh38: 11:66347169-66347169
28 B4GAT1 NM_006876.3(B4GAT1):c.748dup (p.Trp250fs) Duplication Uncertain significance 1006470 GRCh37: 11:66114268-66114269
GRCh38: 11:66346797-66346798
29 B4GAT1 NM_006876.3(B4GAT1):c.780C>G (p.Phe260Leu) SNV Uncertain significance 1009820 GRCh37: 11:66114237-66114237
GRCh38: 11:66346766-66346766
30 B4GAT1 NM_006876.3(B4GAT1):c.220G>A (p.Asp74Asn) SNV Uncertain significance 541280 rs746966446 GRCh37: 11:66114797-66114797
GRCh38: 11:66347326-66347326
31 B4GAT1 NM_006876.3(B4GAT1):c.699C>A (p.Ser233Arg) SNV Uncertain significance 852491 GRCh37: 11:66114318-66114318
GRCh38: 11:66346847-66346847
32 B4GAT1 NM_006876.3(B4GAT1):c.1018G>A (p.Glu340Lys) SNV Uncertain significance 945642 GRCh37: 11:66113999-66113999
GRCh38: 11:66346528-66346528
33 B4GAT1 NM_006876.3(B4GAT1):c.796C>T (p.Arg266Cys) SNV Uncertain significance 1017612 GRCh37: 11:66114221-66114221
GRCh38: 11:66346750-66346750
34 B4GAT1 NM_006876.3(B4GAT1):c.151C>T (p.Pro51Ser) SNV Uncertain significance 1019556 GRCh37: 11:66114866-66114866
GRCh38: 11:66347395-66347395
35 B4GAT1 NM_006876.3(B4GAT1):c.223G>A (p.Ala75Thr) SNV Uncertain significance 1019557 GRCh37: 11:66114794-66114794
GRCh38: 11:66347323-66347323
36 B4GAT1 NM_006876.3(B4GAT1):c.512G>C (p.Arg171Pro) SNV Uncertain significance 1021545 GRCh37: 11:66114505-66114505
GRCh38: 11:66347034-66347034
37 B4GAT1 NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser) SNV Uncertain significance 573749 rs35429253 GRCh37: 11:66114259-66114259
GRCh38: 11:66346788-66346788
38 B4GAT1 NM_006876.3(B4GAT1):c.447G>C (p.Met149Ile) SNV Uncertain significance 577279 rs374533716 GRCh37: 11:66114570-66114570
GRCh38: 11:66347099-66347099
39 B4GAT1 NM_006876.3(B4GAT1):c.994G>A (p.Gly332Arg) SNV Uncertain significance 855519 GRCh37: 11:66114023-66114023
GRCh38: 11:66346552-66346552
40 B4GAT1 NM_006876.3(B4GAT1):c.835T>C (p.Tyr279His) SNV Uncertain significance 946875 GRCh37: 11:66114182-66114182
GRCh38: 11:66346711-66346711
41 B4GAT1 NM_006876.3(B4GAT1):c.1067T>C (p.Leu356Pro) SNV Uncertain significance 235443 rs878853035 GRCh37: 11:66113701-66113701
GRCh38: 11:66346230-66346230
42 B4GAT1 NM_006876.3(B4GAT1):c.162G>T (p.Arg54=) SNV Likely benign 703631 rs751180898 GRCh37: 11:66114855-66114855
GRCh38: 11:66347384-66347384
43 B4GAT1 NM_006876.3(B4GAT1):c.152C>T (p.Pro51Leu) SNV Likely benign 704726 rs531686913 GRCh37: 11:66114865-66114865
GRCh38: 11:66347394-66347394
44 B4GAT1 NM_006876.3(B4GAT1):c.1206G>A (p.Gln402=) SNV Likely benign 420656 rs771065781 GRCh37: 11:66113562-66113562
GRCh38: 11:66346091-66346091
45 B4GAT1 NM_006876.3(B4GAT1):c.924G>A (p.Pro308=) SNV Likely benign 510922 rs200574075 GRCh37: 11:66114093-66114093
GRCh38: 11:66346622-66346622
46 B4GAT1 NM_006876.3(B4GAT1):c.780C>T (p.Phe260=) SNV Likely benign 474251 rs1319732212 GRCh37: 11:66114237-66114237
GRCh38: 11:66346766-66346766
47 B4GAT1 NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr) SNV Likely benign 581531 rs201892419 GRCh37: 11:66114662-66114662
GRCh38: 11:66347191-66347191
48 B4GAT1 NM_006876.3(B4GAT1):c.69G>C (p.Ala23=) SNV Likely benign 421895 rs146812867 GRCh37: 11:66114948-66114948
GRCh38: 11:66347477-66347477
49 B4GAT1 NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=) SNV Benign 420609 rs1190625 GRCh37: 11:66114030-66114030
GRCh38: 11:66346559-66346559
50 B4GAT1 NM_006876.3(B4GAT1):c.828G>T (p.Val276=) SNV Benign 420641 rs142956522 GRCh37: 11:66114189-66114189
GRCh38: 11:66346718-66346718

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

72
# Symbol AA change Variation ID SNP ID
1 B4GAT1 p.Asn390Asp VAR_069989 rs397509397
2 B4GAT1 p.Ala406Val VAR_069990 rs397509396

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

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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