Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
congenital muscular dystrophy-dystroglycanopathy type A13

Summary
Synonym
  • MDDGA13
  • Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
  • Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
External Links
Disease Ontology
DOID:0111238
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
108902 B4gat1 beta-1,4-glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
293667 B4gat1 beta-1,4-glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
37861 CG3253 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
101669768 b4gat1 beta-1,4-glucuronyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100170600 b4gat1 beta-1,4-glucuronyltransferase 1 Xenopus tropicalis (tropical clawed frog)
108713949 b4gat1.L beta-1,4-glucuronyltransferase 1 L homeolog Xenopus laevis (African clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
182795 bgnt-1.4 B3GNT1, Beta-1,3-N-acetylGucosamiNylTransferase 1, homolog;Glyco_trans_2-like domain-containing protein
3565692 bgnt-1.5 B3GNT1, Beta-1,3-N-acetylGucosamiNylTransferase 1, homolog
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O43505 Beta-1,4-glucuronyltransferase 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 71 in total
HPO ID HPO Term
HP:0000482 Microcornea
HP:0000501 Glaucoma
HP:0000518 Cataract
HP:0000528 Anophthalmia
HP:0000541 Retinal detachment
HP:0000556 Retinal dystrophy
HP:0000568 Microphthalmia
HP:0000587 Abnormal optic nerve morphology
HP:0000612 Iris coloboma
HP:0000648 Optic atrophy
Displaying entries 1 - 10 of 13 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
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
79147 FKRP fukutin related protein
About Release Notes Help Feedback
International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.0.0

Last updated: August 19, 2024