MCID: CNG552
MIFTS: 10

Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

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 A12

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 12
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A12 12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Pomk-Related 12
Mddga12 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111235

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMK on 8p11.21.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type A12, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a12, is related to muscular dystrophy-dystroglycanopathy , type a, 12. Affiliated tissues include eye and brain.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

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 A12 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 12 11.5

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A12:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Articles related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A12:

# Title Authors PMID Year
1
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. 61
31833209 2019

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

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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