MCID: CNG559
MIFTS: 14

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
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. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 is LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1). Affiliated tissues include eye and brain.

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

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

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:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LARGE1 LARGE1, 63-KB DELdeletion Pathogenic 6218
2 LARGE1 NM_004737.6(LARGE1):c.1483T>C (p.Trp495Arg)SNV Pathogenic 6219 rs267607209 22:33700462-33700462 22:33304476-33304476
3 LARGE1 LARGE1, GLN87FSundetermined variant Pathogenic 6220
4 LARGE1 NM_004737.6(LARGE1):c.992C>T (p.Ser331Phe)SNV Pathogenic 6221 rs267607210 22:33780191-33780191 22:33384205-33384205
5 LARGE1 NM_004737.6(LARGE1):c.283C>T (p.Arg95Ter)SNV Pathogenic 495057 rs761071115 22:34046478-34046478 22:33650492-33650492
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.1413C>A (p.Ser471Arg)SNV Uncertain significance 579774 rs376160270 22:33712109-33712109 22:33316123-33316123
8 LARGE1 NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys)SNV Uncertain significance 158807 rs116164106 22:34046550-34046550 22:33650564-33650564
9 LARGE1 NM_004737.6(LARGE1):c.1420G>A (p.Val474Ile)SNV Uncertain significance 95164 rs150861748 22:33712102-33712102 22:33316116-33316116

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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