muscular dystrophy-dystroglycanopathy type B3

Summary
Synonym
  • MDDGB3
  • congenital muscular dystrophy POMGNT1-related
Definition
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1.
Super Class
autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
Disease Ontology
DOID:0112378
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Displaying 1 entry
Gene ID Gene Symbol Description Source
68273 Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
362567 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Displaying 1 entry
Gene ID Gene Symbol Description Source
571876 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
414570 pomgnt1.L protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog Xenopus laevis (African clawed frog)
495292 pomgnt1.S protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog Xenopus laevis (African clawed frog)
100158594 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 41 - 49 of 49 in total
HPO ID HPO Term
HP:0007256 Abnormal pyramidal sign
HP:0007260 Type II lissencephaly
HP:0012110 Hypoplasia of the pons
HP:0012443 Abnormal brain morphology
HP:0012695 Decreased thalamic volume
HP:0001249 Intellectual disability
HP:0000007 Autosomal recessive inheritance
HP:0001270 Motor delay
HP:0003577 Congenital onset
Displaying all 6 entries
Gene ID Gene Symbol Description
10585 POMT1 protein O-mannosyltransferase 1
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
79147 FKRP fukutin related protein
84197 POMK protein O-mannose kinase

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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: December 9, 2024