MDDGA
MCID: CNG440
MIFTS: 17

Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies (MDDGA)

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

MalaCards integrated aliases for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies:

Name: Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies 54 6
Lissencephaly Type 2 with Muscular and Ocular Involvement 54
Mddga 54

Classifications:



Summaries for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

MalaCards based summary : Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies, also known as lissencephaly type 2 with muscular and ocular involvement, is related to walker-warburg syndrome and retinitis pigmentosa 76. An important gene associated with Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)), and among its related pathways/superpathways are O-linked glycosylation and Mannose type O-glycan biosynthesis. Affiliated tissues include brain and eye, and related phenotype is Downregulation of Wnt pathway after Wnt3A stimulation.

Related Diseases for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

Graphical network of the top 20 diseases related to Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies:



Diseases related to Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies

Symptoms & Phenotypes for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

GenomeRNAi Phenotypes related to Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of Wnt pathway after Wnt3A stimulation GR00057-A-2 8.62 POMGNT1 TSPAN1

Drugs & Therapeutics for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies

Genetic Tests for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

Anatomical Context for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

MalaCards organs/tissues related to Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies:

42
Brain, Eye

Publications for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

Variations for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

ClinVar genetic disease variations for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
2 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
3 POMT2 NM_013382.5(POMT2): c.49_50delCGinsA (p.Arg18Glyfs) indel Likely pathogenic rs1555356398 GRCh38 Chromosome 14, 77320632: 77320633
4 POMT2 NM_013382.5(POMT2): c.49_50delCGinsA (p.Arg18Glyfs) indel Likely pathogenic rs1555356398 GRCh37 Chromosome 14, 77786975: 77786976

Expression for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

Search GEO for disease gene expression data for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies.

Pathways for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

Pathways related to Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.22 POMGNT1 POMT2
2 9.98 POMGNT1 POMT2

GO Terms for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

Biological processes related to Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 8.96 POMGNT1 POMT2
2 protein O-linked glycosylation GO:0006493 8.62 POMGNT1 POMT2

Molecular functions related to Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.62 POMGNT1 POMT2

Sources for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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33 HPO
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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