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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
External Links
Disease Ontology
DOID:0110298
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 51 - 60 of 65 in total
Gene ID Gene Symbol Description Source
27306 HPGDS hematopoietic prostaglandin D synthase
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
51763 INPP5K inositol polyphosphate-5-phosphatase K
54344 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
55750 AGK acylglycerol kinase
56983 POGLUT1 protein O-glucosyltransferase 1
79147 FKRP fukutin related protein
84197 POMK protein O-mannose kinase
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
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 24 in total
HPO ID HPO Term
HP:0003236 Elevated circulating creatine kinase concentration
HP:0011712 Right bundle branch block
HP:0002119 Ventriculomegaly
HP:0006785 Limb-girdle muscular dystrophy
HP:0001328 Specific learning disability
HP:0003691 Scapular winging
HP:0007126 Proximal amyotrophy
HP:0002355 Difficulty walking
HP:0001263 Global developmental delay
HP:0003697 Scapuloperoneal amyotrophy
Displaying 1 entry
Gene ID Gene Symbol Description
29954 POMT2 protein O-mannosyltransferase 2
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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