MDDGA13
MCID: MSC105
MIFTS: 28

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 56 73 29 6 71
Mddga13 56 73
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A13 73
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, B3gnt1-Related 56
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease B3gnt1-Related 73

Characteristics:

OMIM:

56
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 : 56 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, 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, brain and kidney, and related phenotypes are decreased testicular size and renal cyst

UniProtKB/Swiss-Prot : 73 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
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 11.3

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 global developmental delay 31 HP:0001263
5 hydrocephalus 31 HP:0000238
6 blindness 31 HP:0000618
7 spasticity 31 HP:0001257
8 elevated serum creatine kinase 31 HP:0003236
9 opacification of the corneal stroma 31 HP:0007759
10 micropenis 31 HP:0000054
11 hydronephrosis 31 HP:0000126
12 dandy-walker malformation 31 HP:0001305
13 agenesis of corpus callosum 31 HP:0001274
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:

56
Neurologic Central Nervous System:
seizures
hydrocephalus
spasticity
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

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, Kidney

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 56
23877401 2013
2
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. 56 6
23359570 2013
3
Congenital Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301468 2001

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 13

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

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 B4GAT1 NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs)insertion Pathogenic/Likely pathogenic 183334 rs730882237 11:66114195-66114196 11:66346724-66346725
2 B4GAT1 NM_006876.3(B4GAT1):c.1056+6C>GSNV Conflicting interpretations of pathogenicity 507234 rs1555016387 11:66113955-66113955 11:66346484-66346484
3 B4GAT1 NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr)SNV Conflicting interpretations of pathogenicity 421636 rs765114036 11:66114821-66114821 11:66347350-66347350
4 B4GAT1 NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly)SNV Uncertain significance 423075 rs1012499887 11:66113632-66113632 11:66346161-66346161
5 B4GAT1 NM_006876.3(B4GAT1):c.226A>G (p.Ser76Gly)SNV Uncertain significance 426572 rs1085307691 11:66114791-66114791 11:66347320-66347320
6 B4GAT1 NM_006876.3(B4GAT1):c.1009A>T (p.Thr337Ser)SNV Uncertain significance 474247 rs1555016408 11:66114008-66114008 11:66346537-66346537
7 B4GAT1 NM_006876.3(B4GAT1):c.582G>C (p.Gln194His)SNV Uncertain significance 541278 rs377415983 11:66114435-66114435 11:66346964-66346964
8 B4GAT1 NM_006876.3(B4GAT1):c.220G>A (p.Asp74Asn)SNV Uncertain significance 541280 rs746966446 11:66114797-66114797 11:66347326-66347326
9 B4GAT1 NM_006876.3(B4GAT1):c.521G>T (p.Gly174Val)SNV Uncertain significance 578254 rs771427950 11:66114496-66114496 11:66347025-66347025
10 B4GAT1 NM_006876.3(B4GAT1):c.447G>C (p.Met149Ile)SNV Uncertain significance 577279 rs374533716 11:66114570-66114570 11:66347099-66347099
11 B4GAT1 NM_006876.3(B4GAT1):c.278A>G (p.Asn93Ser)SNV Uncertain significance 574656 rs1332907515 11:66114739-66114739 11:66347268-66347268
12 B4GAT1 NM_006876.3(B4GAT1):c.415G>T (p.Ala139Ser)SNV Uncertain significance 578832 rs1565209689 11:66114602-66114602 11:66347131-66347131
13 B4GAT1 NM_006876.3(B4GAT1):c.688A>G (p.Met230Val)SNV Uncertain significance 580290 rs774850290 11:66114329-66114329 11:66346858-66346858
14 B4GAT1 NM_006876.3(B4GAT1):c.485G>A (p.Arg162His)SNV Uncertain significance 580561 rs1565209634 11:66114532-66114532 11:66347061-66347061
15 B4GAT1 NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser)SNV Uncertain significance 573749 rs35429253 11:66114259-66114259 11:66346788-66346788
16 B4GAT1 NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln)SNV Uncertain significance 474252 rs1555016420 11:66114037-66114037 11:66346566-66346566
17 B4GAT1 NM_006876.3(B4GAT1):c.460G>T (p.Ala154Ser)SNV Uncertain significance 474250 rs1555016589 11:66114557-66114557 11:66347086-66347086
18 B4GAT1 NM_006876.3(B4GAT1):c.173A>G (p.Gln58Arg)SNV Uncertain significance 474249 rs1555016650 11:66114844-66114844 11:66347373-66347373
19 B4GAT1 NM_006876.3(B4GAT1):c.37C>T (p.Gln13Ter)SNV Uncertain significance 567512 rs767082700 11:66114980-66114980 11:66347509-66347509
20 B4GAT1 NM_006876.3(B4GAT1):c.1022G>A (p.Arg341His)SNV Uncertain significance 648835 11:66113995-66113995 11:66346524-66346524
21 B4GAT1 NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu)SNV Uncertain significance 664213 11:66114033-66114033 11:66346562-66346562
22 B4GAT1 NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln)SNV Uncertain significance 664063 11:66114503-66114503 11:66347032-66347032
23 B4GAT1 NM_006876.3(B4GAT1):c.511C>A (p.Arg171=)SNV Uncertain significance 645033 11:66114506-66114506 11:66347035-66347035
24 B4GAT1 NM_006876.3(B4GAT1):c.170A>C (p.Asp57Ala)SNV Uncertain significance 541279 rs1555016653 11:66114847-66114847 11:66347376-66347376
25 B4GAT1 NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys)SNV Uncertain significance 541277 rs113570160 11:66114352-66114352 11:66346881-66346881
26 B4GAT1 NM_006876.3(B4GAT1):c.994G>A (p.Gly332Arg)SNV Uncertain significance 855519 11:66114023-66114023 11:66346552-66346552
27 B4GAT1 NM_006876.3(B4GAT1):c.772C>G (p.Pro258Ala)SNV Uncertain significance 849580 11:66114245-66114245 11:66346774-66346774
28 B4GAT1 NM_006876.3(B4GAT1):c.699C>A (p.Ser233Arg)SNV Uncertain significance 852491 11:66114318-66114318 11:66346847-66346847
29 B4GAT1 NM_006876.3(B4GAT1):c.1206G>A (p.Gln402=)SNV Likely benign 420656 rs771065781 11:66113562-66113562 11:66346091-66346091
30 B4GAT1 NM_006876.3(B4GAT1):c.162G>T (p.Arg54=)SNV Likely benign 703631 11:66114855-66114855 11:66347384-66347384
31 B4GAT1 NM_006876.3(B4GAT1):c.152C>T (p.Pro51Leu)SNV Likely benign 704726 11:66114865-66114865 11:66347394-66347394
32 B4GAT1 NM_006876.3(B4GAT1):c.924G>A (p.Pro308=)SNV Likely benign 510922 rs200574075 11:66114093-66114093 11:66346622-66346622
33 B4GAT1 NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr)SNV Likely benign 581531 rs201892419 11:66114662-66114662 11:66347191-66347191
34 B4GAT1 NM_006876.3(B4GAT1):c.780C>T (p.Phe260=)SNV Likely benign 474251 rs1319732212 11:66114237-66114237 11:66346766-66346766
35 B4GAT1 NM_006876.3(B4GAT1):c.69G>C (p.Ala23=)SNV Likely benign 421895 rs146812867 11:66114948-66114948 11:66347477-66347477
36 B4GAT1 NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=)SNV Benign/Likely benign 420609 rs1190625 11:66114030-66114030 11:66346559-66346559
37 B4GAT1 NM_006876.3(B4GAT1):c.828G>T (p.Val276=)SNV Benign/Likely benign 420641 rs142956522 11:66114189-66114189 11:66346718-66346718
38 B4GAT1 NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu)SNV Benign/Likely benign 541281 rs143223962 11:66113622-66113622 11:66346151-66346151
39 B4GAT1 NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=)SNV Benign 474248 rs139287952 11:66113607-66113607 11:66346136-66346136
40 B4GAT1 NM_006876.3(B4GAT1):c.1217C>T (p.Ala406Val)SNV no interpretation for the single variant 242670 rs397509396 11:66113551-66113551 11:66346080-66346080
41 B4GAT1 NM_006876.3(B4GAT1):c.1168A>G (p.Asn390Asp)SNV no interpretation for the single variant 242669 rs397509397 11:66113600-66113600 11:66346129-66346129

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

73
# 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
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32 ICD10
33 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
53 NINDS
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57 OMIM via Orphanet
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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