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 11 - 20 of 65 in total
Gene ID Gene Symbol Description Source
1120 CHKB choline kinase beta
1497 CTNS cystinosin, lysosomal cystine transporter
1605 DAG1 dystroglycan 1
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
1800 DPEP1 dipeptidase 1
2023 ENO1 enolase 1
2218 FKTN fukutin
2548 GAA alpha glucosidase
2710 GK glycerol kinase
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