MCID: CNG559
MIFTS: 23

Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 12 15
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A6 29 6
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A6 12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Large-Related 12
Mddga6 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111242

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in LARGE on 22q12.3.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type A6, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a6, is related to muscular dystrophy-dystroglycanopathy , type a, 6 and walker-warburg syndrome. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 is LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1). Affiliated tissues include eye and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

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 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 6 11.2
2 walker-warburg syndrome 9.8 LARGE1 APOL4

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

GenomeRNAi Phenotypes related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.36 SBNO1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.36 LARGE1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.36 SBNO1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.36 LARGE1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.36 SBNO1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.36 LARGE1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.36 LARGE1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.36 LARGE1 SBNO1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.36 LARGE1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.36 LARGE1
11 Decreased hepcidin::fluc mRNA expression GR00253-A 9.26 CACNG2 LARGE1 SBNO1 TOM1

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Genetic tests related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A6:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A6 29 LARGE1

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A6:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Articles related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A6:

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

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6:

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LARGE1 LARGE1, 63-KB DEL Deletion Pathogenic 6218 GRCh37:
GRCh38:
2 LARGE1 LARGE1, GLN87FS Variation Pathogenic 6220 GRCh37:
GRCh38:
3 LARGE1 NM_004737.6(LARGE1):c.1483T>C (p.Trp495Arg) SNV Pathogenic 6219 rs267607209 GRCh37: 22:33700462-33700462
GRCh38: 22:33304476-33304476
4 LARGE1 NM_004737.6(LARGE1):c.992C>T (p.Ser331Phe) SNV Pathogenic 6221 rs267607210 GRCh37: 22:33780191-33780191
GRCh38: 22:33384205-33384205
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_133642.5(LARGE1):c.1600G>A (p.Val534Met) SNV Uncertain significance 901481 GRCh37: 22:33700345-33700345
GRCh38: 22:33304359-33304359
26 LARGE1 NM_133642.5(LARGE1):c.*699G>A SNV Uncertain significance 901908 GRCh37: 22:33669714-33669714
GRCh38: 22:33273728-33273728
27 LARGE1 NM_133642.5(LARGE1):c.2212A>G (p.Met738Val) SNV Uncertain significance 901972 GRCh37: 22:33670472-33670472
GRCh38: 22:33274486-33274486
28 LARGE1 NM_133642.5(LARGE1):c.2073+12G>A SNV Uncertain significance 901973 GRCh37: 22:33673034-33673034
GRCh38: 22:33277048-33277048
29 LARGE1 NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met) SNV Uncertain significance 902051 GRCh37: 22:33712096-33712096
GRCh38: 22:33316110-33316110
30 LARGE1 NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) SNV Uncertain significance 902052 GRCh37: 22:33712133-33712133
GRCh38: 22:33316147-33316147
31 LARGE1 NM_133642.5(LARGE1):c.479T>G (p.Val160Gly) SNV Uncertain significance 902108 GRCh37: 22:34022240-34022240
GRCh38: 22:33626256-33626256
32 LARGE1 NM_133642.5(LARGE1):c.460G>A (p.Val154Ile) SNV Uncertain significance 902109 GRCh37: 22:34022259-34022259
GRCh38: 22:33626275-33626275
33 LARGE1 NM_133642.5(LARGE1):c.-47C>T SNV Uncertain significance 902165 GRCh37: 22:34157510-34157510
GRCh38: 22:33761523-33761523
34 LARGE1 NM_133642.5(LARGE1):c.-377C>G SNV Uncertain significance 902215 GRCh37: 22:34316277-34316277
GRCh38: 22:33920289-33920289
35 LARGE1 NM_133642.5(LARGE1):c.*1229G>A SNV Uncertain significance 902760 GRCh37: 22:33669184-33669184
GRCh38: 22:33273198-33273198
36 LARGE1 NM_133642.5(LARGE1):c.*639T>G SNV Uncertain significance 902818 GRCh37: 22:33669774-33669774
GRCh38: 22:33273788-33273788
37 LARGE1 NM_133642.5(LARGE1):c.*566G>A SNV Uncertain significance 902819 GRCh37: 22:33669847-33669847
GRCh38: 22:33273861-33273861
38 LARGE1 NM_133642.5(LARGE1):c.2070G>A (p.Val690=) SNV Uncertain significance 902872 GRCh37: 22:33673049-33673049
GRCh38: 22:33277063-33277063
39 LARGE1 NM_133642.5(LARGE1):c.230G>A (p.Arg77His) SNV Uncertain significance 902995 GRCh37: 22:34046531-34046531
GRCh38: 22:33650545-33650545
40 LARGE1 NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys) SNV Uncertain significance 902997 GRCh37: 22:34046541-34046541
GRCh38: 22:33650555-33650555
41 LARGE1 NM_133642.5(LARGE1):c.-194G>A SNV Uncertain significance 903046 GRCh37: 22:34316094-34316094
GRCh38: 22:33920106-33920106
42 LARGE1 NM_133642.5(LARGE1):c.-500T>C SNV Uncertain significance 903100 GRCh37: 22:34316400-34316400
GRCh38: 22:33920412-33920412
43 LARGE1 NM_004737.6(LARGE1):c.1092C>T (p.Thr364=) SNV Uncertain significance 289726 rs144216539 GRCh37: 22:33777944-33777944
GRCh38: 22:33381958-33381958
44 LARGE1 NM_004737.6(LARGE1):c.1962G>A (p.Glu654=) SNV Uncertain significance 194517 rs141089495 GRCh37: 22:33673157-33673157
GRCh38: 22:33277171-33277171
45 LARGE1 NM_004737.6(LARGE1):c.*479A>T SNV Uncertain significance 341426 rs886057459 GRCh37: 22:33669934-33669934
GRCh38: 22:33273948-33273948
46 LARGE1 NM_004737.6(LARGE1):c.*833A>G SNV Uncertain significance 341417 rs748248240 GRCh37: 22:33669580-33669580
GRCh38: 22:33273594-33273594
47 LARGE1 NM_004737.6(LARGE1):c.-340T>G SNV Uncertain significance 341448 rs886057464 GRCh37: 22:34316177-34316177
GRCh38: 22:33920189-33920189
48 LARGE1 NM_004737.6(LARGE1):c.-350A>G SNV Uncertain significance 341449 rs886057465 GRCh37: 22:34316187-34316187
GRCh38: 22:33920199-33920199
49 LARGE1 NM_004737.6(LARGE1):c.-462A>T SNV Uncertain significance 341454 rs535216289 GRCh37: 22:34316299-34316299
GRCh38: 22:33920311-33920311
50 LARGE1 NM_004737.6(LARGE1):c.-518G>A SNV Uncertain significance 341455 rs532736408 GRCh37: 22:34316355-34316355
GRCh38: 22:33920367-33920367

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

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