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MIRAGE
autosomal recessive limb-girdle muscular dystrophy type 2N

Summary
Synonym
  • LGMD2N
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
  • muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
Super Class
autosomal recessive limb-girdle muscular dystrophy
Disease Ontology
DOID:0110298
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
217734 Pomt2 protein-O-mannosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
688673 Pomt2 protein-O-mannosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
31024 tw twisted
Displaying 1 entry
Gene ID Gene Symbol Description Source
563878 pomt2 protein-O-mannosyltransferase 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100490100 pomt2 protein-O-mannosyltransferase 2 Xenopus tropicalis (tropical clawed frog)
108698684 pomt2.L protein-O-mannosyltransferase 2 L homeolog Xenopus laevis (African clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
851210 PMT2 dolichyl-phosphate-mannose-protein mannosyltransferase PMT2
853113 PMT6 dolichyl-phosphate-mannose-protein mannosyltransferase PMT6
854499 PMT3 dolichyl-phosphate-mannose-protein mannosyltransferase PMT3
The Human Phenotype Ontology
Displaying entries 11 - 20 of 24 in total
HPO ID HPO Term
HP:0003697 Scapuloperoneal amyotrophy
HP:0006785 Limb-girdle muscular dystrophy
HP:0006913 Frontal cortical atrophy
HP:0007126 Proximal amyotrophy
HP:0008981 Calf muscle hypertrophy
HP:0011712 Right bundle branch block
HP:0100543 Cognitive impairment
HP:0000007 Autosomal recessive inheritance
HP:0001270 Motor delay
HP:0003560 Muscular dystrophy
Displaying 1 entry
Gene ID Gene Symbol Description
29954 POMT2 protein O-mannosyltransferase 2
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International Collaboration

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: February 17, 2025