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 A2

Summary
Synonym
  • MDDGA2
  • Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
External Links
Disease Ontology
DOID:0111240
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29954 POMT2 protein O-mannosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
217734 Pomt2 protein-O-mannosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
688673 Pomt2 protein-O-mannosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
31024 tw twisted
Displaying 1 entry
Gene ID Gene Symbol Description Source
563878 pomt2 protein-O-mannosyltransferase 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100490100 pomt2 protein-O-mannosyltransferase 2 Xenopus tropicalis (tropical clawed frog)
108698684 pomt2.L protein-O-mannosyltransferase 2 L homeolog Xenopus laevis (African clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
851210 PMT2 dolichyl-phosphate-mannose-protein mannosyltransferase PMT2
853113 PMT6 dolichyl-phosphate-mannose-protein mannosyltransferase PMT6
854499 PMT3 dolichyl-phosphate-mannose-protein mannosyltransferase PMT3
The Human Phenotype Ontology
Displaying entries 61 - 70 of 88 in total
HPO ID HPO Term
HP:0003457 EMG abnormality
HP:0004374 Hemiplegia/hemiparesis
HP:0007360 Aplasia/Hypoplasia of the cerebellum
HP:0100022 Abnormality of movement
HP:0100543 Cognitive impairment
HP:0000007 Autosomal recessive inheritance
HP:0000158 Macroglossia
HP:0000204 Cleft upper lip
HP:0000540 Hypermetropia
HP:0000557 Buphthalmos
Displaying entries 11 - 14 of 14 in total
Gene ID Gene Symbol Description
79147 FKRP fukutin related protein
84197 POMK protein O-mannose kinase
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
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