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Standards Ontologies Notations
autosomal recessive limb-girdle muscular dystrophy type 2K

Summary
Synonym
  • LGMD2K
  • MDDGC1
  • limb-girdle muscular dystrophy-intellectual disability syndrome
  • muscular dystrophy limb-girdle type 2K
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Disease Ontology
DOID:0110297
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
99011 Pomt1 protein-O-mannosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
84430 Pomt1 protein-O-mannosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
39297 rt rotated abdomen
Displaying 1 entry
Gene ID Gene Symbol Description Source
569769 pomt1 protein-O-mannosyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
448433 pomt1 protein-O-mannosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
108699937 pomt1.S protein-O-mannosyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
853608 PMT4 dolichyl-phosphate-mannose-protein mannosyltransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 31 - 37 of 37 in total
HPO ID HPO Term
HP:0002355 Difficulty walking
HP:0003677 Slowly progressive
HP:0001270 Motor delay
HP:0001387 Joint stiffness
HP:0011463 Childhood onset
HP:0000007 Autosomal recessive inheritance
HP:0001371 Flexion contracture
Displaying 1 entry
Gene ID Gene Symbol Description
10585 POMT1 protein O-mannosyltransferase 1
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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