MCID: CNG553
MIFTS: 16

Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

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 A3

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 12
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A3 6
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A3 12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomgnt1-Related 12
Mddga3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111236

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type A3, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a3, is related to muscular dystrophy-dystroglycanopathy , type a, 3. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)). Affiliated tissues include eye and brain.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

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 A3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 3 11.5

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A3:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Articles related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A3:

# Title Authors PMID Year
1
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6
19299310 2009
2
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6
17878207 2007
3
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 6
17030669 2006
4
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 6
15466003 2004
5
POMGnT1 gene alterations in a family with neurological abnormalities. 6
15236414 2004
6
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. 6
12588800 2003
7
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. 6
11709191 2001
8
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB). 61
31580529 2019

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMGNT1 NM_017739.3(POMGNT1):c.1413+1G>TSNV Pathogenic 3986 rs587777821 1:46657979-46657979 1:46192307-46192307
2 POMGNT1 NM_017739.3(POMGNT1):c.1413+1G>ASNV Pathogenic 3987 rs587777821 1:46657979-46657979 1:46192307-46192307
3 POMGNT1 NM_017739.3(POMGNT1):c.1478C>G (p.Pro493Arg)SNV Pathogenic 3990 rs28942068 1:46657831-46657831 1:46192159-46192159
4 POMGNT1 NM_017739.3(POMGNT1):c.187C>T (p.Arg63Ter)SNV Pathogenic 3994 rs193919337 1:46662690-46662690 1:46197018-46197018
5 POMGNT1 NM_017739.3(POMGNT1):c.1832del (p.Leu611fs)deletion Pathogenic 3995 rs587777822 1:46655193-46655193 1:46189521-46189521
6 POMGNT1 NM_017739.3(POMGNT1):c.1425G>A (p.Trp475Ter)SNV Pathogenic 3996 rs267606961 1:46657884-46657884 1:46192212-46192212
7 POMGNT1 NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys)SNV Pathogenic/Likely pathogenic 3992 rs28940869 1:46658069-46658069 1:46192397-46192397
8 POMGNT1 NM_017739.3(POMGNT1):c.1719del (p.His573fs)deletion Pathogenic/Likely pathogenic 3989 rs386834017 1:46655592-46655592 1:46189920-46189920
9 POMGNT1 NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln)SNV Likely pathogenic 3993 rs193919336 1:46659545-46659545 1:46193873-46193873
10 POMGNT1 NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn)SNV Likely pathogenic 3988 rs193919335 1:46656145-46656145 1:46190473-46190473
11 POMGNT1 NM_017739.3(POMGNT1):c.1876del (p.Val626fs)deletion Likely pathogenic 56591 rs386834022 1:46655149-46655149 1:46189477-46189477

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

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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