MCID: CNG440
MIFTS: 10

Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies

Categories: Rare diseases, Neuronal diseases, Muscle 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 53 6
Lissencephaly Type 2 with Muscular and Ocular Involvement 53
Mddga 53

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-)). 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...

Diseases related to Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 walker-warburg syndrome 10.9
2 retinitis pigmentosa 76 9.2 POMGNT1 TSPAN1
3 retinitis pigmentosa 9.0 POMGNT1 TSPAN1

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:

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

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:

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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:

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# 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 GRCh38 Chromosome 14, 77320632: 77320633
4 POMT2 NM_013382.5(POMT2): c.49_50delCGinsA (p.Arg18Glyfs) indel Likely pathogenic 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...

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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