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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   postural orthostatic tachycardia syndrome
  

Disease ID 1538
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:14)
C0015674  |  chronic fatigue syndrome  |  4
C0002871  |  anemia  |  1
C0039494  |  temporomandibular disorder  |  1
C0030319  |  panic disorder  |  1
C0264832  |  peripartum cardiomyopathy  |  1
C0149931  |  migraine  |  1
C0039494  |  temporomandibular disorders  |  1
C0037317  |  sleep disturbance  |  1
C0003467  |  anxiety  |  1
C0020538  |  hypertension  |  1
C0037317  |  sleep disturbances  |  1
C0021053  |  immune disorders  |  1
C0021053  |  immune disorder  |  1
C0026769  |  multiple sclerosis  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
154  |  ADRB2  |  CIPHER
4846  |  NOS3  |  CIPHER
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1538
Disease postural orthostatic tachycardia syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:19)
HP:0012378  |  Fatigue  |  5
HP:0012432  |  Chronic fatigue  |  5
HP:0001279  |  Syncope  |  4
HP:0012668  |  Situational syncope  |  3
HP:0002459  |  Dysautonomia  |  2
HP:0001278  |  Orthostatic hypotension  |  2
HP:0000822  |  Hypertension  |  1
HP:0002315  |  Headaches  |  1
HP:0011106  |  Depleted blood volume  |  1
HP:0002076  |  Migraine headaches  |  1
HP:0000708  |  Behavioral problems  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0001903  |  Anemia  |  1
HP:0003546  |  Exercise intolerance  |  1
HP:0000739  |  Anxiety  |  1
HP:0002360  |  Sleep disturbance  |  1
HP:0001382  |  Hyperextensible joints  |  1
HP:0011703  |  Sinus tach  |  1
HP:0100543  |  Cognitive deficits  |  1
Disease ID 1538
Disease postural orthostatic tachycardia syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:5)
C2697375  |  brugada syndrome
C1963138  |  hypertension
C0149931  |  migraine
C0039070  |  syncope
C0013720  |  ehlers-danlos syndrome
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0039070  |  syncope  |  4
C0149931  |  migraine  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total 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
rs121918126159469046530SLC6A2umls:C1299624BeFreeAll 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.0.0008143262005SLC6A21655698005GA,C,T
rs12191812615946904154ADRB2umls:C1299624BeFree(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.0.0053628242005SLC6A21655698005GA,C,T
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1538
Disease postural orthostatic tachycardia syndrome
Case(Waiting for update.)