PedAM
Pediatric Disease Annotations & Medicines
| postural orthostatic tachycardia syndrome | ||||
| Disease ID | 779 |
|---|---|
| Disease | postural orthostatic tachycardia syndrome |
| Definition | A syndrome of ORTHOSTATIC INTOLERANCE combined with excessive upright TACHYCARDIA, and usually without associated ORTHOSTATIC HYPOTENSION. All variants have in common an excessively reduced venous return to the heart (central HYPOVOLEMIA) while upright. |
| Synonym | postural orthostatic tachycardia syndrome (disorder) postural orthostatic tachycardia syndrome [disease/finding] postural tachycardia syndrome syndrome, postural tachycardia tachycardia syndrome, postural |
| UMLS | C1299624 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 779 |
|---|---|
| Disease | postural orthostatic tachycardia syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0012668 | Situational syncope | 3 HP:0012378 | Fatigue | 2 HP:0001279 | Syncope | 2 HP:0002459 | Dysautonomia | 2 HP:0012432 | Chronic fatigue | 2 HP:0001382 | Hyperextensible joints | 1 HP:0000708 | Behavioral problems | 1 HP:0002076 | Migraine headaches | 1 |
| Disease ID | 779 |
|---|---|
| Disease | postural orthostatic tachycardia syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918126 | 15946904 | 6530 | SLC6A2 | umls:C1299624 | BeFree | All patients did not show the Ala457Pro mutation of NET; all sequence variants detected in alpha(2C)AR, NET, and COI were not considered causally related to POTS. | 0.000814326 | 2005 | SLC6A2 | 16 | 55698005 | G | A,C,T |
| rs121918126 | 15946904 | 154 | ADRB2 | umls:C1299624 | BeFree | (a) DNA extraction from leukocytes of 29 patients with POTS; (b) Denaturing high performance liquid chromatography analysis to screen for the 12-bp deletion (Del322-325) in alpha(2C)AR and for the alanine to proline mutation at amino acid 457 (Ala457Pro) in NET; (c) Systematic direct sequence analysis to screen for SNPs in beta2AR, NET, and COI. | 0.005362824 | 2005 | SLC6A2 | 16 | 55698005 | G | A,C,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:3) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C1299624 | bisoprolol | D017298 | 66722-44-9 | postural orthostatic tachycardia syndrome | MESH:D054972 | therapeutic | 11198485 | ||
| C1299624 | mefloquine | D015767 | 53230-10-7 | postural orthostatic tachycardia syndrome | MESH:D054972 | marker/mechanism | 20860911 | ||
| C1299624 | propranolol | D011433 | 525-66-6 | postural orthostatic tachycardia syndrome | MESH:D054972 | therapeutic | 20860911 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |