MCID: CNG556
MIFTS: 17

Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

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 A10

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 12 15
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A10 12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Tmem5-Related 12
Mddga10 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111239

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type A10, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a10, is related to muscular dystrophy-dystroglycanopathy , type a, 10 and myopathy, congenital, bailey-bloch. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 is SELENON (Selenoprotein N), and among its related pathways/superpathways is Mannose type O-glycan biosynthesis. Affiliated tissues include eye and brain.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

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 A10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 10 11.5
2 myopathy, congenital, bailey-bloch 10.1 SELENON CCDC78
3 congenital muscular dystrophy-dystroglycanopathy type a11 10.0 SELENON B3GALNT2
4 central core myopathy 10.0 SELENON KBTBD13
5 congenital structural myopathy 10.0 SELENON KBTBD13
6 muscular dystrophy, congenital merosin-deficient, 1a 9.9 SELENON LAMA2
7 isolated elevated serum creatine phosphokinase levels 9.9 SELENON LAMA2
8 rigid spine muscular dystrophy 1 9.9 SELENON LAMA2
9 ullrich congenital muscular dystrophy 1 9.8 SELENON LAMA2
10 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 POMK LAMA2
11 centronuclear myopathy 9.8 SELENON KBTBD13 CCDC78
12 bethlem myopathy 1 9.7 SELENON LAMA2
13 combined oxidative phosphorylation deficiency 6 9.6 RXYLT1 B3GALNT2
14 cardiomyopathy, dilated, 1g 9.6 RXYLT1 POMK
15 muscle tissue disease 9.6 SELENON LAMA2
16 congenital muscular dystrophy-dystroglycanopathy a14 9.4 SELENON LAMA2 KBTBD13 CCDC78
17 congenital fiber-type disproportion 9.4 SELENON LAMA2 KBTBD13 CCDC78
18 malignant hyperthermia 9.4 SELENON LAMA2 KBTBD13 CCDC78
19 myopathy 9.4 SELENON LAMA2 KBTBD13 CCDC78
20 congenital muscular dystrophy-dystroglycanopathy type a3 9.3 RXYLT1 POMK B3GALNT2
21 muscular dystrophy-dystroglycanopathy , type b, 6 9.3 RXYLT1 POMK B3GALNT2
22 cobblestone lissencephaly 9.2 RXYLT1 POMK B3GALNT2
23 lissencephaly 9.2 RXYLT1 POMK B3GALNT2
24 muscle eye brain disease 9.2 RXYLT1 POMK B3GALNT2
25 muscular dystrophy, congenital, lmna-related 9.0 SELENON RXYLT1 LAMA2 B3GALNT2
26 congenital muscular dystrophy-dystroglycanopathy type a 8.9 RXYLT1 POMK LAMA2 B3GALNT2
27 muscular dystrophy-dystroglycanopathy 8.9 RXYLT1 POMK LAMA2 B3GALNT2
28 muscular dystrophy, congenital, 1b 8.9 RXYLT1 POMK LAMA2 B3GALNT2
29 muscular dystrophy-dystroglycanopathy , type a, 4 8.9 RXYLT1 POMK LAMA2 B3GALNT2
30 muscular dystrophy 8.6 SELENON RXYLT1 POMK LAMA2 B3GALNT2
31 walker-warburg syndrome 8.6 SELENON RXYLT1 POMK LAMA2 B3GALNT2

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A10:



Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A10:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Pathways related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.16 RXYLT1 POMK B3GALNT2

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Cellular components related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 8.62 LAMA2 CCDC78

Biological processes related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 8.62 POMK B3GALNT2

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

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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