congenital muscular dystrophy-dystroglycanopathy type A8

Summary
Synonym
  • MDDGA8
  • Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
Disease Ontology
DOID:0111231
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Displaying 1 entry
Gene ID Gene Symbol Description Source
215494 Pomgnt2 protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
316091 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Displaying 1 entry
Gene ID Gene Symbol Description Source
497644 pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
444520 pomgnt2.L protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) L homeolog Xenopus laevis (African clawed frog)
496628 pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 11 - 20 of 51 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 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: December 9, 2024