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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 1 - 10 of 65 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
142 PARP1 poly(ADP-ribose) polymerase 1
176 ACAN aggrecan
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
239 ALOX12 arachidonate 12-lipoxygenase, 12S type
250 ALPP alkaline phosphatase, placental
353 APRT adenine phosphoribosyltransferase
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
960 CD44 CD44 molecule (IN blood group)
1119 CHKA choline kinase alpha
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 11 - 20 of 24 in total
HPO ID HPO Term
HP:0001644 Dilated cardiomyopathy
HP:0008981 Calf muscle hypertrophy
HP:0002540 Inability to walk
HP:0100543 Cognitive impairment
HP:0003551 Difficulty climbing stairs
HP:0002194 Delayed gross motor development
HP:0006913 Frontal cortical atrophy
HP:0003560 Muscular dystrophy
HP:0011463 Childhood onset
HP:0001270 Motor delay
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