MCID: CNG559
MIFTS: 21

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
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 11.5
2 walker-warburg syndrome 9.7 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

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LARGE1 NM_004737.6(LARGE1):c.283C>T (p.Arg95Ter)SNV Pathogenic 495057 rs761071115 22:34046478-34046478 22:33650492-33650492
2 LARGE1 LARGE1, 63-KB DELdeletion Pathogenic 6218
3 LARGE1 NM_004737.6(LARGE1):c.1483T>C (p.Trp495Arg)SNV Pathogenic 6219 rs267607209 22:33700462-33700462 22:33304476-33304476
4 LARGE1 LARGE1, GLN87FSundetermined variant Pathogenic 6220
5 LARGE1 NM_004737.6(LARGE1):c.992C>T (p.Ser331Phe)SNV Pathogenic 6221 rs267607210 22:33780191-33780191 22:33384205-33384205
6 LARGE1 NM_004737.6(LARGE1):c.1033_1034dup (p.Asn345fs)duplication Likely pathogenic 562016 rs1569112355 22:33778001-33778002 22:33382015-33382016
7 LARGE1 NM_004737.6(LARGE1):c.1644C>T (p.Asn548=)SNV Conflicting interpretations of pathogenicity 95167 rs113253213 22:33700301-33700301 22:33304315-33304315
8 LARGE1 NM_004737.6(LARGE1):c.1788G>A (p.Ala596=)SNV Conflicting interpretations of pathogenicity 167250 rs74550830 22:33679277-33679277 22:33283291-33283291
9 LARGE1 NM_004737.6(LARGE1):c.1962G>A (p.Glu654=)SNV Conflicting interpretations of pathogenicity 194517 rs141089495 22:33673157-33673157 22:33277171-33277171
10 LARGE1 NM_004737.6(LARGE1):c.1599C>T (p.Ile533=)SNV Conflicting interpretations of pathogenicity 211369 rs12627793 22:33700346-33700346 22:33304360-33304360
11 LARGE1 NM_004737.6(LARGE1):c.909T>G (p.Leu303=)SNV Conflicting interpretations of pathogenicity 287758 rs563144239 22:33780274-33780274 22:33384288-33384288
12 LARGE1 NM_004737.6(LARGE1):c.1092C>T (p.Thr364=)SNV Conflicting interpretations of pathogenicity 289726 rs144216539 22:33777944-33777944 22:33381958-33381958
13 LARGE1 NM_004737.6(LARGE1):c.99C>T (p.Ser33=)SNV Conflicting interpretations of pathogenicity 704457 22:34157365-34157365 22:33761378-33761378
14 LARGE1 NM_004737.6(LARGE1):c.584G>A (p.Arg195His)SNV Conflicting interpretations of pathogenicity 533121 rs147597912 22:34000452-34000452 22:33604466-33604466
15 LARGE1 NM_004737.6(LARGE1):c.857G>A (p.Arg286His)SNV Uncertain significance 341435 rs200035534 22:33828182-33828182 22:33432196-33432196
16 LARGE1 NM_004737.6(LARGE1):c.26G>A (p.Arg9Gln)SNV Uncertain significance 341439 rs763697782 22:34157438-34157438 22:33761451-33761451
17 LARGE1 NM_004737.6(LARGE1):c.-145-9A>CSNV Uncertain significance 341442 rs759992064 22:34252799-34252799 22:33856811-33856811
18 LARGE1 NM_004737.6(LARGE1):c.-334G>ASNV Uncertain significance 341447 rs185068235 22:34316171-34316171 22:33920183-33920183
19 LARGE1 NM_004737.6(LARGE1):c.-340T>GSNV Uncertain significance 341448 rs886057464 22:34316177-34316177 22:33920189-33920189
20 LARGE1 NM_004737.6(LARGE1):c.-422C>GSNV Uncertain significance 341452 rs886057468 22:34316259-34316259 22:33920271-33920271
21 LARGE1 NM_004737.6(LARGE1):c.-518G>ASNV Uncertain significance 341455 rs532736408 22:34316355-34316355 22:33920367-33920367
22 LARGE1 NM_004737.6(LARGE1):c.-543C>TSNV Uncertain significance 341456 rs886057469 22:34316380-34316380 22:33920392-33920392
23 LARGE1 NM_004737.6(LARGE1):c.*100C>ASNV Uncertain significance 341430 rs567278765 22:33670313-33670313 22:33274327-33274327
24 LARGE1 NM_004737.6(LARGE1):c.2073+11C>TSNV Uncertain significance 341432 rs774384587 22:33673035-33673035 22:33277049-33277049
25 LARGE1 NM_004737.6(LARGE1):c.1287C>T (p.Asn429=)SNV Uncertain significance 341434 rs561439887 22:33733632-33733632 22:33337646-33337646
26 LARGE1 NM_004737.6(LARGE1):c.*501T>CSNV Uncertain significance 341424 rs886057457 22:33669912-33669912 22:33273926-33273926
27 LARGE1 NM_004737.6(LARGE1):c.-305C>TSNV Uncertain significance 341445 rs886057462 22:34316142-34316142 22:33920154-33920154
28 LARGE1 NM_004737.6(LARGE1):c.-310T>GSNV Uncertain significance 341446 rs886057463 22:34316147-34316147 22:33920159-33920159
29 LARGE1 NM_004737.7(LARGE1):c.*1229G>ASNV Uncertain significance 902760 22:33669184-33669184 22:33273198-33273198
30 LARGE1 NM_004737.7(LARGE1):c.*995T>CSNV Uncertain significance 900197 22:33669418-33669418 22:33273432-33273432
31 LARGE1 NM_004737.7(LARGE1):c.*969G>ASNV Uncertain significance 900198 22:33669444-33669444 22:33273458-33273458
32 LARGE1 NM_004737.7(LARGE1):c.*699G>ASNV Uncertain significance 901908 22:33669714-33669714 22:33273728-33273728
33 LARGE1 NM_004737.7(LARGE1):c.*639T>GSNV Uncertain significance 902818 22:33669774-33669774 22:33273788-33273788
34 LARGE1 NM_004737.7(LARGE1):c.*566G>ASNV Uncertain significance 902819 22:33669847-33669847 22:33273861-33273861
35 LARGE1 NM_004737.7(LARGE1):c.*186C>TSNV Uncertain significance 901423 22:33670227-33670227 22:33274241-33274241
36 LARGE1 NM_004737.7(LARGE1):c.*155C>TSNV Uncertain significance 901424 22:33670258-33670258 22:33274272-33274272
37 LARGE1 NM_004737.7(LARGE1):c.2212A>G (p.Met738Val)SNV Uncertain significance 901972 22:33670472-33670472 22:33274486-33274486
38 LARGE1 NM_004737.7(LARGE1):c.2070G>A (p.Val690=)SNV Uncertain significance 902872 22:33673049-33673049 22:33277063-33277063
39 LARGE1 NM_004737.7(LARGE1):c.1600G>A (p.Val534Met)SNV Uncertain significance 901481 22:33700345-33700345 22:33304359-33304359
40 LARGE1 NM_004737.7(LARGE1):c.1426C>A (p.Leu476Met)SNV Uncertain significance 902051 22:33712096-33712096 22:33316110-33316110
41 LARGE1 NM_004737.7(LARGE1):c.1389C>T (p.Tyr463=)SNV Uncertain significance 902052 22:33712133-33712133 22:33316147-33316147
42 LARGE1 NM_004737.7(LARGE1):c.479T>G (p.Val160Gly)SNV Uncertain significance 902108 22:34022240-34022240 22:33626256-33626256
43 LARGE1 NM_004737.7(LARGE1):c.460G>A (p.Val154Ile)SNV Uncertain significance 902109 22:34022259-34022259 22:33626275-33626275
44 LARGE1 NM_004737.7(LARGE1):c.230G>A (p.Arg77His)SNV Uncertain significance 902995 22:34046531-34046531 22:33650545-33650545
45 LARGE1 NM_004737.7(LARGE1):c.227A>C (p.Asn76Thr)SNV Uncertain significance 902996 22:34046534-34046534 22:33650548-33650548
46 LARGE1 NM_004737.7(LARGE1):c.220G>A (p.Glu74Lys)SNV Uncertain significance 902997 22:34046541-34046541 22:33650555-33650555
47 LARGE1 NM_004737.7(LARGE1):c.-47C>TSNV Uncertain significance 902165 22:34157510-34157510 22:33761523-33761523
48 LARGE1 NM_004737.7(LARGE1):c.-257G>ASNV Uncertain significance 903046 22:34316094-34316094 22:33920106-33920106
49 LARGE1 NM_004737.7(LARGE1):c.-265C>ASNV Uncertain significance 899426 22:34316102-34316102 22:33920114-33920114
50 LARGE1 NM_004737.7(LARGE1):c.-440C>GSNV Uncertain significance 902215 22:34316277-34316277 22:33920289-33920289

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
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