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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
| 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 |
Related Glycoprotein
