MDDGA6
MCID: MSC041
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy , Type a, 6 (MDDGA6)

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, 6

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 6 57 72 13 6 70
Mddga6 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A6 72
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Large-Related 57
Muscle-Eye-Brain Disease Large-Related 72
Walker-Warburg Syndrome Large-Related 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset prenatally or at birth
four patients have been reported


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

OMIM® : 57 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (613154) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 6, also known as mddga6, is related to congenital muscular dystrophy-dystroglycanopathy type a6. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6 is LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1). Affiliated tissues include eye, brain and cerebellum, and related phenotypes are dandy-walker malformation and intellectual disability

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6: 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, 6

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, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a6 11.0

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 dandy-walker malformation 31 frequent (33%) HP:0001305
2 intellectual disability 31 HP:0001249
3 hydrocephalus 31 HP:0000238
4 cataract 31 HP:0000518
5 optic atrophy 31 HP:0000648
6 flexion contracture 31 HP:0001371
7 elevated serum creatine kinase 31 HP:0003236
8 areflexia 31 HP:0001284
9 severe muscular hypotonia 31 HP:0006829
10 muscular dystrophy 31 HP:0003560
11 hypoplasia of the pons 31 HP:0012110
12 retinal dysplasia 31 HP:0007973
13 type ii lissencephaly 31 HP:0007260

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hydrocephalus
areflexia
mental retardation
ventricular dilatation
pontine hypoplasia
more
Muscle Soft Tissue:
muscular dystrophy
hypotonia, severe
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )

Skeletal:
contractures

Head And Neck Eyes:
cataract
optic atrophy
retinal dysplasia

Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Skull:
widened anterior fontanelles

Clinical features from OMIM®:

613154 (Updated 05-Apr-2021)

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

40
Eye, Brain, Cerebellum, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

# Title Authors PMID Year
1
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6 57
19299310 2009
2
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 6 57
19067344 2008
3
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. 6 57
17436019 2007
4
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 57
17878207 2007

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LARGE1 NM_004737.6(LARGE1):c.1483T>C (p.Trp495Arg) SNV Pathogenic 6219 rs267607209 GRCh37: 22:33700462-33700462
GRCh38: 22:33304476-33304476
2 LARGE1 NM_004737.6(LARGE1):c.992C>T (p.Ser331Phe) SNV Pathogenic 6221 rs267607210 GRCh37: 22:33780191-33780191
GRCh38: 22:33384205-33384205
3 LARGE1 LARGE1, GLN87FS Variation Pathogenic 6220 GRCh37:
GRCh38:
4 LARGE1 LARGE1, 63-KB DEL Deletion Pathogenic 6218 GRCh37:
GRCh38:
5 LARGE1 NM_004737.6(LARGE1):c.283C>T (p.Arg95Ter) SNV Pathogenic 495057 rs761071115 GRCh37: 22:34046478-34046478
GRCh38: 22:33650492-33650492
6 LARGE1 NM_004737.6(LARGE1):c.1033_1034dup (p.Asn345fs) Duplication Likely pathogenic 562016 rs1569112355 GRCh37: 22:33778001-33778002
GRCh38: 22:33382015-33382016
7 LARGE1 NM_004737.6(LARGE1):c.188A>G (p.Glu63Gly) SNV Uncertain significance 464471 rs539747006 GRCh37: 22:34046573-34046573
GRCh38: 22:33650587-33650587
8 LARGE1 NM_133642.5(LARGE1):c.-202C>A SNV Uncertain significance 899426 GRCh37: 22:34316102-34316102
GRCh38: 22:33920114-33920114
9 LARGE1 NM_133642.5(LARGE1):c.-527C>T SNV Uncertain significance 899475 GRCh37: 22:34316427-34316427
GRCh38: 22:33920439-33920439
10 LARGE1 NM_133642.5(LARGE1):c.*995T>C SNV Uncertain significance 900197 GRCh37: 22:33669418-33669418
GRCh38: 22:33273432-33273432
11 LARGE1 NM_133642.5(LARGE1):c.*969G>A SNV Uncertain significance 900198 GRCh37: 22:33669444-33669444
GRCh38: 22:33273458-33273458
12 LARGE1 NM_133642.5(LARGE1):c.1005+15T>G SNV Uncertain significance 900384 GRCh37: 22:33780163-33780163
GRCh38: 22:33384177-33384177
13 LARGE1 NM_004737.6(LARGE1):c.909T>G (p.Leu303=) SNV Uncertain significance 287758 rs563144239 GRCh37: 22:33780274-33780274
GRCh38: 22:33384288-33384288
14 LARGE1 NM_004737.6(LARGE1):c.584G>A (p.Arg195His) SNV Uncertain significance 533121 rs147597912 GRCh37: 22:34000452-34000452
GRCh38: 22:33604466-33604466
15 LARGE1 NM_133642.5(LARGE1):c.492-6C>G SNV Uncertain significance 900444 GRCh37: 22:34000550-34000550
GRCh38: 22:33604564-33604564
16 LARGE1 NM_004737.6(LARGE1):c.99C>T (p.Ser33=) SNV Uncertain significance 704457 rs377353667 GRCh37: 22:34157365-34157365
GRCh38: 22:33761378-33761378
17 LARGE1 NM_133642.5(LARGE1):c.*186C>T SNV Uncertain significance 901423 GRCh37: 22:33670227-33670227
GRCh38: 22:33274241-33274241
18 LARGE1 NM_133642.5(LARGE1):c.*155C>T SNV Uncertain significance 901424 GRCh37: 22:33670258-33670258
GRCh38: 22:33274272-33274272
19 LARGE1 NM_004737.6(LARGE1):c.1320C>T (p.Asp440=) SNV Uncertain significance 341433 rs772615481 GRCh37: 22:33712202-33712202
GRCh38: 22:33316216-33316216
20 LARGE1 NM_004737.6(LARGE1):c.*580C>T SNV Uncertain significance 341423 rs776235903 GRCh37: 22:33669833-33669833
GRCh38: 22:33273847-33273847
21 LARGE1 NM_004737.6(LARGE1):c.2073+11C>T SNV Uncertain significance 341432 rs774384587 GRCh37: 22:33673035-33673035
GRCh38: 22:33277049-33277049
22 LARGE1 NM_004737.6(LARGE1):c.-310T>G SNV Uncertain significance 341446 rs886057463 GRCh37: 22:34316147-34316147
GRCh38: 22:33920159-33920159
23 LARGE1 NM_004737.6(LARGE1):c.-305C>T SNV Uncertain significance 341445 rs886057462 GRCh37: 22:34316142-34316142
GRCh38: 22:33920154-33920154
24 LARGE1 NM_004737.6(LARGE1):c.-422C>G SNV Uncertain significance 341452 rs886057468 GRCh37: 22:34316259-34316259
GRCh38: 22:33920271-33920271
25 LARGE1 NM_004737.6(LARGE1):c.506A>G (p.His169Arg) SNV Uncertain significance 341436 rs886057461 GRCh37: 22:34000530-34000530
GRCh38: 22:33604544-33604544
26 LARGE1 NM_133642.5(LARGE1):c.1600G>A (p.Val534Met) SNV Uncertain significance 901481 GRCh37: 22:33700345-33700345
GRCh38: 22:33304359-33304359
27 LARGE1 NM_133642.5(LARGE1):c.*699G>A SNV Uncertain significance 901908 GRCh37: 22:33669714-33669714
GRCh38: 22:33273728-33273728
28 LARGE1 NM_133642.5(LARGE1):c.2212A>G (p.Met738Val) SNV Uncertain significance 901972 GRCh37: 22:33670472-33670472
GRCh38: 22:33274486-33274486
29 LARGE1 NM_133642.5(LARGE1):c.2073+12G>A SNV Uncertain significance 901973 GRCh37: 22:33673034-33673034
GRCh38: 22:33277048-33277048
30 LARGE1 NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met) SNV Uncertain significance 902051 GRCh37: 22:33712096-33712096
GRCh38: 22:33316110-33316110
31 LARGE1 NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) SNV Uncertain significance 902052 GRCh37: 22:33712133-33712133
GRCh38: 22:33316147-33316147
32 LARGE1 NM_133642.5(LARGE1):c.479T>G (p.Val160Gly) SNV Uncertain significance 902108 GRCh37: 22:34022240-34022240
GRCh38: 22:33626256-33626256
33 LARGE1 NM_133642.5(LARGE1):c.460G>A (p.Val154Ile) SNV Uncertain significance 902109 GRCh37: 22:34022259-34022259
GRCh38: 22:33626275-33626275
34 LARGE1 NM_133642.5(LARGE1):c.-47C>T SNV Uncertain significance 902165 GRCh37: 22:34157510-34157510
GRCh38: 22:33761523-33761523
35 LARGE1 NM_133642.5(LARGE1):c.-377C>G SNV Uncertain significance 902215 GRCh37: 22:34316277-34316277
GRCh38: 22:33920289-33920289
36 LARGE1 NM_133642.5(LARGE1):c.*1229G>A SNV Uncertain significance 902760 GRCh37: 22:33669184-33669184
GRCh38: 22:33273198-33273198
37 LARGE1 NM_133642.5(LARGE1):c.*639T>G SNV Uncertain significance 902818 GRCh37: 22:33669774-33669774
GRCh38: 22:33273788-33273788
38 LARGE1 NM_133642.5(LARGE1):c.*566G>A SNV Uncertain significance 902819 GRCh37: 22:33669847-33669847
GRCh38: 22:33273861-33273861
39 LARGE1 NM_133642.5(LARGE1):c.2070G>A (p.Val690=) SNV Uncertain significance 902872 GRCh37: 22:33673049-33673049
GRCh38: 22:33277063-33277063
40 LARGE1 NM_133642.5(LARGE1):c.230G>A (p.Arg77His) SNV Uncertain significance 902995 GRCh37: 22:34046531-34046531
GRCh38: 22:33650545-33650545
41 LARGE1 NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys) SNV Uncertain significance 902997 GRCh37: 22:34046541-34046541
GRCh38: 22:33650555-33650555
42 LARGE1 NM_133642.5(LARGE1):c.-194G>A SNV Uncertain significance 903046 GRCh37: 22:34316094-34316094
GRCh38: 22:33920106-33920106
43 LARGE1 NM_133642.5(LARGE1):c.-500T>C SNV Uncertain significance 903100 GRCh37: 22:34316400-34316400
GRCh38: 22:33920412-33920412
44 LARGE1 NM_004737.6(LARGE1):c.26G>A (p.Arg9Gln) SNV Uncertain significance 341439 rs763697782 GRCh37: 22:34157438-34157438
GRCh38: 22:33761451-33761451
45 LARGE1 NM_004737.6(LARGE1):c.*501T>C SNV Uncertain significance 341424 rs886057457 GRCh37: 22:33669912-33669912
GRCh38: 22:33273926-33273926
46 LARGE1 NM_004737.6(LARGE1):c.*455C>T SNV Uncertain significance 341427 rs886057460 GRCh37: 22:33669958-33669958
GRCh38: 22:33273972-33273972
47 LARGE1 NM_004737.6(LARGE1):c.-355G>C SNV Uncertain significance 341450 rs886057466 GRCh37: 22:34316192-34316192
GRCh38: 22:33920204-33920204
48 LARGE1 NM_004737.6(LARGE1):c.-543C>T SNV Uncertain significance 341456 rs886057469 GRCh37: 22:34316380-34316380
GRCh38: 22:33920392-33920392
49 LARGE1 NM_004737.6(LARGE1):c.*798G>A SNV Uncertain significance 341419 rs778063005 GRCh37: 22:33669615-33669615
GRCh38: 22:33273629-33273629
50 LARGE1 NM_004737.6(LARGE1):c.178C>T (p.Arg60Trp) SNV Uncertain significance 341437 rs142135345 GRCh37: 22:34046583-34046583
GRCh38: 22:33650597-33650597

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

72
# Symbol AA change Variation ID SNP ID
1 LARGE1 p.Ser331Phe VAR_065064 rs267607210
2 LARGE1 p.Trp495Arg VAR_065065 rs267607209
3 LARGE1 p.Cys443Tyr VAR_075304

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 6.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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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