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 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
1585 CYP11B2 cytochrome P450 family 11 subfamily B member 2
1636 ACE angiotensin I converting enzyme
3074 HEXB hexosaminidase subunit beta
4973 OLR1 oxidized low density lipoprotein receptor 1
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
5337 PLD1 phospholipase D1
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
6319 SCD stearoyl-CoA desaturase

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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