autosomal recessive limb-girdle muscular dystrophy type 2T

Summary
Synonym
  • LGMD2T
  • MDDGC14
  • muscular dystrophy limb-girdle type 2T
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
  • muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Related Genes
Displaying entries 31 - 40 of 65 in total
Gene ID Gene Symbol Description Source
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5837 PYGM glycogen phosphorylase, muscle associated
6383 SDC2 syndecan 2
6476 SI sucrase-isomaltase
6484 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
6519 SLC3A1 solute carrier family 3 member 1
8813 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
8818 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory
8867 SYNJ1 synaptojanin 1
8871 SYNJ2 synaptojanin 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
40599 Gmppb GDP-mannose pyrophosphorylase B
The Human Phenotype Ontology
Displaying entries 11 - 20 of 32 in total
HPO ID HPO Term
HP:0001250 Seizure
HP:0003388 Easy fatigability
HP:0000252 Microcephaly
HP:0003546 Exercise intolerance
HP:0001324 Muscle weakness
HP:0008959 Distal upper limb muscle weakness
HP:0001249 Intellectual disability
HP:0003327 Axial muscle weakness
HP:0009053 Distal lower limb muscle weakness
HP:0001252 Hypotonia
Displaying 1 entry
Gene ID Gene Symbol Description
29925 GMPPB GDP-mannose pyrophosphorylase B

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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