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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 11 - 20 of 65 in total
Gene ID Gene Symbol Description Source
1120 CHKB choline kinase beta
1497 CTNS cystinosin, lysosomal cystine transporter
1605 DAG1 dystroglycan 1
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
1800 DPEP1 dipeptidase 1
2023 ENO1 enolase 1
2218 FKTN fukutin
2548 GAA alpha glucosidase
2710 GK glycerol 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 21 - 30 of 37 in total
HPO ID HPO Term
HP:0002650 Scoliosis
HP:0001319 Neonatal hypotonia
HP:0003551 Difficulty climbing stairs
HP:0012735 Cough
HP:0003198 Myopathy
HP:0001712 Left ventricular hypertrophy
HP:0003560 Muscular dystrophy
HP:0000750 Delayed speech and language development
HP:0003388 Easy fatigability
HP:0003733 Thigh hypertrophy
Displaying 1 entry
Gene ID Gene Symbol Description
10585 POMT1 protein O-mannosyltransferase 1
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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: August 19, 2024