congenital muscular dystrophy-dystroglycanopathy type A3

Summary
Synonym
  • MDDGA3
  • Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
Disease Ontology
DOID:0111236
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Displaying 1 entry
Gene ID Gene Symbol Description Source
68273 Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
362567 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Displaying 1 entry
Gene ID Gene Symbol Description Source
571876 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
414570 pomgnt1.L protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog Xenopus laevis (African clawed frog)
495292 pomgnt1.S protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog Xenopus laevis (African clawed frog)
100158594 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 21 - 30 of 98 in total
HPO ID HPO Term
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001263 Global developmental delay
HP:0001265 Hyporeflexia
HP:0001274 Agenesis of corpus callosum
HP:0001284 Areflexia
HP:0001302 Pachygyria
HP:0001305 Dandy-Walker malformation
HP:0001321 Cerebellar hypoplasia
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

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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