muscular dystrophy-dystroglycanopathy type B14

Summary
Synonym
  • MDDGB14
  • congenital muscular dystrophy GMPPB-related
Definition
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31.
Super Class
autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
Disease Ontology
DOID:0112377
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29925 GMPPB GDP-mannose pyrophosphorylase B
Displaying 1 entry
Gene ID Gene Symbol Description Source
40599 Gmppb GDP-mannose pyrophosphorylase B
The Human Phenotype Ontology
Displaying entries 21 - 30 of 91 in total
HPO ID HPO Term
HP:0001250 Seizure
HP:0001256 Intellectual disability, mild
HP:0001263 Global developmental delay
HP:0001270 Motor delay
HP:0001274 Agenesis of corpus callosum
HP:0001315 Reduced tendon reflexes
HP:0001317 Abnormal cerebellum morphology
HP:0001320 Cerebellar vermis hypoplasia
HP:0001321 Cerebellar hypoplasia
HP:0001347 Hyperreflexia
Displaying all 7 entries
Gene ID Gene Symbol Description
10585 POMT1 protein O-mannosyltransferase 1
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
79147 FKRP fukutin related protein
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
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: August 19, 2024