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 41 - 50 of 65 in total
Gene ID Gene Symbol Description Source
8972 MGAM maltase-glucoamylase
9104 RGN regucalcin
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
22933 SIRT2 sirtuin 2
26033 ATRNL1 attractin like 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
40599 Gmppb GDP-mannose pyrophosphorylase B
The Human Phenotype Ontology
Displaying entries 21 - 30 of 32 in total
HPO ID HPO Term
HP:0003394 Muscle spasm
HP:0000518 Cataract
HP:0006698 Dilatation of the ventricular cavity
HP:0002093 Respiratory insufficiency
HP:0001270 Motor delay
HP:0003701 Proximal muscle weakness
HP:0003325 Limb-girdle muscle weakness
HP:0003560 Muscular dystrophy
HP:0000007 Autosomal recessive inheritance
HP:0003577 Congenital onset
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