generalized dystonia

Summary
Synonym
  • familial dystonia
  • fragments of torsion dystonia
Definition
A dystonia that affects most or all of the body.
Super Class
dystonia
External Links
Disease Ontology
DOID:0050835
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 18 in total
Gene ID Gene Symbol Description Source
1629 DBT dihydrolipoamide branched chain transacylase E2
1800 DPEP1 dipeptidase 1
1892 ECHS1 enoyl-CoA hydratase, short chain 1
2571 GAD1 glutamate decarboxylase 1
2639 GCDH glutaryl-CoA dehydrogenase
2720 GLB1 galactosidase beta 1
2821 GPI glucose-6-phosphate isomerase
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
6342 SCP2 sterol carrier protein 2
7915 ALDH5A1 aldehyde dehydrogenase 5 family member A1
Related Glycoprotein
Displaying entry 11 - 11 of 11 in total
UniProt ID Protein Name Source
Q9P2R7 Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial

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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