MCID: CNG548
MIFTS: 9

Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

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 A8

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 12
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A8 12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Gtdc2-Related 12
Mddga8 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111231

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type A8, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a8, is related to muscular dystrophy-dystroglycanopathy , type a, 8. Affiliated tissues include eye and brain.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

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 A8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 8 11.5

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A8:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A8

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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