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autosomal recessive limb-girdle muscular dystrophy type 2O

Summary
Synonym
  • LGMD2O
  • MDDGC3
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
  • muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Disease Ontology
DOID:0110292
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 21 - 30 of 65 in total
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
3339 HSPG2 heparan sulfate proteoglycan 2
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
3612 IMPA1 inositol monophosphatase 1
3633 INPP5B inositol polyphosphate-5-phosphatase B
3958 LGALS3 galectin 3
4153 MBL2 mannose binding lectin 2
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
5373 PMM2 phosphomannomutase 2
5553 PRG2 proteoglycan 2, pro eosinophil major basic protein
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)
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0003560 Muscular dystrophy
HP:0100297 Increased endomysial connective tissue
HP:0003307 Hyperlordosis
HP:0003712 Skeletal muscle hypertrophy
HP:0001270 Motor delay
HP:0003676 Progressive
HP:0011003 High myopia
HP:0003551 Difficulty climbing stairs
HP:0000007 Autosomal recessive inheritance
HP:0003621 Juvenile onset
Displaying 1 entry
Gene ID Gene Symbol Description
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
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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

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Last updated: August 19, 2024