muscular dystrophy-dystroglycanopathy type C8

Summary
Synonym
  • LGMDR24
  • MDDGC2
  • autosomal recessive limb-girdle muscular dystrophy 24
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
  • muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
Definition
A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1.
Super Class
autosomal recessive disease muscular dystrophy-dystroglycanopathy
External Links
Disease Ontology
DOID:0112382
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Displaying 1 entry
Gene ID Gene Symbol Description Source
215494 Pomgnt2 protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
316091 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Displaying 1 entry
Gene ID Gene Symbol Description Source
497644 pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
444520 pomgnt2.L protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) L homeolog Xenopus laevis (African clawed frog)
496628 pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
HPO ID HPO Term
HP:0003593 Infantile onset
HP:0001263 Global developmental delay
HP:0008981 Calf muscle hypertrophy
HP:0000750 Delayed speech and language development
HP:0003693 Distal amyotrophy
HP:0003236 Elevated circulating creatine kinase concentration
HP:0000007 Autosomal recessive inheritance
HP:0003621 Juvenile onset
HP:0001270 Motor delay
HP:0003701 Proximal muscle weakness
Displaying 1 entry
Gene ID Gene Symbol Description
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024