Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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 A12

Summary
Synonym
  • MDDGA12
  • Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
Disease Ontology
DOID:0111235
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84197 POMK protein O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
74653 Pomk protein-O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
306549 Pomk protein-O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
492773 pomk protein O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
496338 pomk.L protein-O-mannose kinase L homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying entries 41 - 50 of 68 in total
HPO ID HPO Term
HP:0003202 Skeletal muscle atrophy
HP:0003560 Muscular dystrophy
HP:0007731 Chorioretinal dysplasia
HP:0007957 Corneal opacity
HP:0007973 Retinal dysplasia
HP:0008736 Hypoplasia of penis
HP:0010508 Metatarsus valgus
HP:0012400 Abnormal circulating aldolase concentration
HP:0000546 Retinal degeneration
HP:0000253 Progressive microcephaly
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description
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 v4.1.0

Last updated: December 9, 2024