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muscular dystrophy-dystroglycanopathy type C12

Summary
Synonym
  • LGMD due to POMK deficiency
  • Limb-girdle muscular dystrophy due to POMK deficiency
  • MDDGC12
  • muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
Definition
A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21.
Super Class
autosomal recessive disease muscular dystrophy-dystroglycanopathy
Disease Ontology
DOID:0112381
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84197 POMK protein O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
74653 Pomk protein-O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
306549 Pomk protein-O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
492773 pomk protein O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
496338 pomk.L protein-O-mannose kinase L homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying entries 11 - 12 of 12 in total
HPO ID HPO Term
HP:0001319 Neonatal hypotonia
HP:0003391 Gowers sign
Displaying 1 entry
Gene ID Gene Symbol Description
84197 POMK protein O-mannose kinase
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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: December 9, 2024