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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
External Links
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)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9H5K3 Protein O-mannose kinase
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:0003236 Elevated circulating creatine kinase concentration
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
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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: August 19, 2024