postural orthostatic tachycardia syndrome

Summary
Synonym
  • familial orthostatic tachycardia due to norepinephrine transporter deficiency
  • irritable heart
  • mitral valve prolapse syndrome
  • orhtostatic intolerance
  • orthostatic intolerance due to NET deficiency
  • postural tachycardia syndrome due to NET deficiency
  • soldiers heart
Definition
A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2.
Super Class
heart conduction disease monogenic disease
External Links
Disease Ontology
DOID:0111154
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying entries 11 - 15 of 15 in total
Gene ID Gene Symbol Description Source
9469 CHST3 carbohydrate sulfotransferase 3
26229 B3GAT3 beta-1,3-glucuronyltransferase 3
29940 DSE dermatan sulfate epimerase
64131 XYLT1 xylosyltransferase 1
64132 XYLT2 xylosyltransferase 2

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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