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
External Links
Disease Ontology
DOID:0111231
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
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)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q8NAT1 Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2
The Human Phenotype Ontology
Displaying entries 41 - 50 of 51 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:0003577 Congenital onset
HP:0000007 Autosomal recessive inheritance
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