congenital muscular dystrophy-dystroglycanopathy type A11

Summary
Synonym
  • MDDGA11
  • Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
Disease Ontology
DOID:0111230
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
97884 B3galnt2 UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
291212 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
553716 b3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
431874 b3galnt2.L beta-1,3-N-acetylgalactosaminyltransferase 2 L homeolog Xenopus laevis (African clawed frog)
496641 b3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 1 - 10 of 78 in total
HPO ID HPO Term
HP:0000028 Cryptorchidism
HP:0000175 Cleft palate
HP:0000176 Submucous cleft hard palate
HP:0000193 Bifid uvula
HP:0000238 Hydrocephalus
HP:0000252 Microcephaly
HP:0000256 Macrocephaly
HP:0000358 Posteriorly rotated ears
HP:0000369 Low-set ears
HP:0000411 Protruding ear
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
1605 DAG1 dystroglycan 1
2218 FKTN fukutin
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
729920 CRPPA CDP-L-ribitol pyrophosphorylase A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024