MCID: ORT004
MIFTS: 68

Orthostatic Intolerance

Categories: Genetic diseases, Mental diseases, Cardiovascular diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Orthostatic Intolerance

MalaCards integrated aliases for Orthostatic Intolerance:

Name: Orthostatic Intolerance 53 72 71 36 28 13
Mitral Valve Prolapse 12 72 36 28 51 40 41 14 59
Neurocirculatory Asthenia 53 12 41 14 69
Mitral Valve Prolapse Syndrome 53 69
Irritable Heart 53 69
Familial Orthostatic Tachycardia Due to Norepinephrine Transporter Deficiency 55
Cardiovascular Malfunction Arising from Mental Factors 12
Postural Tachycardia Syndrome Due to Net Deficiency 55
Orthostatic Intolerance Due to Net Deficiency 55
Mitral Valve Prolapse, Familial, X-Linked 69
Myxomatous Mitral Valve Prolapse 12
Systolic Click-Murmur Syndrome 12
Cardiovascular Neurosis 12
Mitral Leaflet Syndrome 12
Floppy Mitral Valve 12
Da Costa's Syndrome 12
Krishaber's Disease 12
Barlow's Syndrome 12
Soldiers Heart 53
Oi 71

Characteristics:

Orphanet epidemiological data:

55
orthostatic intolerance due to net deficiency
Inheritance: Autosomal dominant;

HPO:

31
orthostatic intolerance:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Orthostatic Intolerance

MedlinePlus : 40 Mitral valve prolapse (MVP) occurs when one of your heart's valves doesn't work properly. The flaps of the valve are "floppy" and don't close tightly. Most people who have the condition are born with it. It also tends to run in families. Most of the time, MVP doesn't cause any problems. Rarely, blood can leak the wrong way through the floppy valve. This can cause Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast) Shortness of breath Cough Fatigue, dizziness, or anxiety Migraine headaches Chest discomfort Most people who have mitral valve prolapse (MVP) don't need treatment because they don't have symptoms and complications. If you need treatment for MVP, medicines can help relieve symptoms or prevent complications. Very few people will need surgery to repair or replace the mitral valve. MVP puts you at risk for infective endocarditis, a kind of heart infection. To prevent it, doctors used to prescribe antibiotics before dental work or certain surgeries. Now, only people at high risk of endocarditis need the antibiotics. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Orthostatic Intolerance, also known as mitral valve prolapse, is related to mitral valve prolapse 1 and chronic orthostatic intolerance, and has symptoms including orthostatic tachycardia, edema and chest pain. An important gene associated with Orthostatic Intolerance is SLC6A2 (Solute Carrier Family 6 Member 2), and among its related pathways/superpathways are Peptide ligand-binding receptors and Vascular smooth muscle contraction. The drugs Midodrine and Metoprolol have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and lung, and related phenotypes are cardiovascular system and homeostasis/metabolism

Disease Ontology : 12 A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.

UniProtKB/Swiss-Prot : 71 Orthostatic intolerance: Syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high.

PubMed Health : 59
About mitral valve prolapse: Mitral (MI-tral) valve prolapse (MVP) is a condition in which the heart's mitral valve doesn't work well. The flaps of the valve are "floppy" and don't close tightly. These flaps normally help seal or open the valve.Much of the time, MVP doesn't cause any problems. Rarely, blood can leak the wrong way through the floppy valve. This can lead to palpitations, shortness of breath, chest pain, and other symptoms. (Palpitations are feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast.)

Wikipedia : 72 Mitral valve prolapse (MVP; a.k.a. floppy mitral valve syndrome, systolic click murmur syndrome or... more...

Description from OMIM: 604715

Related Diseases for Orthostatic Intolerance

Diseases in the Orthostatic Intolerance family:

Chronic Orthostatic Intolerance

Diseases related to Orthostatic Intolerance via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 mitral valve prolapse 1 33.0 DCHS1 MMVP1
2 chronic orthostatic intolerance 12.4
3 brittle bone disorder 12.0
4 osteogenesis imperfecta, type iv 11.9
5 osteogenesis imperfecta, type v 11.9
6 osteogenesis imperfecta, type viii 11.8
7 osteogenesis imperfecta, type iii 11.8
8 osteogenesis imperfecta, type xiii 11.7
9 osteogenesis imperfecta, type xiv 11.7
10 osteogenesis imperfecta, type xv 11.7
11 osteogenesis imperfecta, type i 11.7
12 osteogenesis imperfecta, type vii 11.7
13 osteogenesis imperfecta, type xi 11.7
14 osteogenesis imperfecta, type ii 11.7
15 osteogenesis imperfecta, type x 11.6
16 osteogenesis imperfecta, type vi 11.6
17 postural orthostatic tachycardia syndrome 11.6
18 osteogenesis imperfecta, type xii 11.6
19 dentinogenesis imperfecta 11.3
20 microphthalmia, syndromic 2 11.2
21 osteogenesis imperfecta, type ix 11.1
22 anxiety 10.7
23 prinzmetal's variant angina 10.5 EDN1 NOS3
24 platelet membrane fluidity 10.5 NOS2 NOS3
25 syncope 10.5
26 resting heart rate, variation in 10.4 ADRA2B ADRB1 ADRB2
27 persistent fetal circulation syndrome 10.4 EDN1 NOS3 POMC
28 hepatopulmonary syndrome 10.4 EDN1 NOS2 NOS3
29 coronary artery vasospasm 10.4 EDN1 MGAM NOS3
30 scleredema adultorum 10.4 FBN1 POMC
31 perinephritis 10.4 ADRB2 EDN1 MGAM
32 cerebritis 10.3
33 raynaud disease 10.3 ADRA2C AGTR1 EDN1
34 impotence 10.3 EDN1 NOS2 NOS3
35 meningococcal infection 10.3 ADRB1 ADRB2 AGTR1
36 chronic fatigue syndrome 10.3
37 renovascular hypertension 10.3 AGTR1 EDN1 NOS3
38 ischemic optic neuropathy 10.3 AGTR1 EDN1 NOS3
39 ocular hypotension 10.3 ADRB1 ADRB2
40 nonarteritic anterior ischemic optic neuropathy 10.3 AGTR1 EDN1 NOS3
41 renal hypertension 10.2 AGTR1 DBH EDN1
42 portal hypertension 10.2 AGTR1 EDN1 NOS3
43 arteries, anomalies of 10.2 AGTR1 EDN1 NOS3
44 mitral valve disease 10.2 AGTR1 FBN1 NOS3
45 congestive heart failure 10.2 ADRB1 ADRB2 AGTR1 EDN1
46 autonomic dysfunction 10.2
47 acute mountain sickness 10.2 ADRB2 AGTR1 EDN1 NOS3
48 coronary artery anomaly 10.2 ADRB1 AGTR1 EDN1 NOS3
49 aortic valve disease 1 10.1 FBN1 PDLIM1 POMC
50 chronic rhinitis 10.1 ECE1 EDN1

Comorbidity relations with Orthostatic Intolerance via Phenotypic Disease Network (PDN):


Anxiety Chronic Myocardial Ischemia
Dysthymic Disorder Esophagitis
Heart Disease Hypertension, Essential
Intermediate Coronary Syndrome Ischemic Heart Disease

Graphical network of the top 20 diseases related to Orthostatic Intolerance:



Diseases related to Orthostatic Intolerance

Symptoms & Phenotypes for Orthostatic Intolerance

Clinical features from OMIM:

604715

Human phenotypes related to Orthostatic Intolerance:

31
# Description HPO Frequency HPO Source Accession
1 orthostatic tachycardia 31 HP:0012173

UMLS symptoms related to Orthostatic Intolerance:


edema, chest pain, angina pectoris

MGI Mouse Phenotypes related to Orthostatic Intolerance:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2 AGTR1
2 homeostasis/metabolism MP:0005376 10.3 AGTR1 DBH ECE1 EDN1 FBN1 MGAM
3 growth/size/body region MP:0005378 10.28 ADRA2B ADRB1 ADRB2 AGTR1 DBH DCHS1
4 behavior/neurological MP:0005386 10.27 ACHE ADRA2A ADRA2B ADRA2C ADRB2 AGTR1
5 mortality/aging MP:0010768 10.2 ECE1 EDN1 FBN1 NOS2 NOS3 POMC
6 adipose tissue MP:0005375 10.16 AGTR1 DBH FBN1 NOS2 NOS3 POMC
7 endocrine/exocrine gland MP:0005379 10.11 ADRB1 ADRB2 DBH ECE1 EDN1 FBN1
8 hematopoietic system MP:0005397 10.1 AGTR1 ECE1 FBN1 NOS2 NOS3 PDLIM1
9 nervous system MP:0003631 10 ACHE ADRA2A ADRA2C ADRB2 AGTR1 DBH
10 muscle MP:0005369 9.91 ACHE ADRA2B ADRB1 ADRB2 ECE1 EDN1
11 renal/urinary system MP:0005367 9.56 ADRA2B AGTR1 DCHS1 EDN1 FBN1 NOS2
12 skeleton MP:0005390 9.28 ADRB1 ADRB2 DBH DCHS1 ECE1 EDN1

Drugs & Therapeutics for Orthostatic Intolerance

PubMedHealth treatment related to Orthostatic Intolerance: 59

Most people who have mitral valve prolapse (MVP) don't need treatment because they don't have symptoms and complications.Even people who do have symptoms may not need treatment. The presence of symptoms doesn't always mean that the backflow of blood through the valve is significant.People who have MVP and troublesome mitral valve backflow usually need treatment. MVP is treated with medicines, surgery, or both.The goals of treating MVP include:Preventing infective endocarditis (IE), arrhythmias, and other complicationsRelieving symptomsCorrecting the underlying mitral valve problem, if necessary

Drugs for Orthostatic Intolerance (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 274)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midodrine Approved Phase 4,Phase 3,Phase 2,Phase 1 42794-76-3, 133163-28-7 4195
2
Metoprolol Approved, Investigational Phase 4,Phase 2 51384-51-1, 37350-58-6 4171
3
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 525-66-6 4946
4
Fludrocortisone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 127-31-1 31378
5
Droxidopa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 23651-95-8 443940
6
Bisoprolol Approved Phase 4 66722-44-9 2405
7 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
8 Adrenergic Antagonists Phase 4,Phase 2,Phase 1,Early Phase 1
9 Adrenergic beta-Antagonists Phase 4,Phase 2,Phase 1,Early Phase 1
10 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1,Early Phase 1
11 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
13 Adrenergic Agonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
16 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
17 Vasoconstrictor Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
18 Adrenergic beta-1 Receptor Antagonists Phase 4,Phase 2,Phase 1
19 Sympatholytics Phase 4,Phase 3,Phase 2,Phase 1
20 Vasodilator Agents Phase 4,Phase 2,Phase 1,Early Phase 1
21 Anticonvulsants Phase 4,Phase 2,Phase 1
22 Bromides Phase 4,Phase 2,Phase 1,Early Phase 1
23 Cholinergic Agents Phase 4,Phase 2,Phase 1,Early Phase 1
24 Cholinesterase Inhibitors Phase 4,Phase 2,Phase 1,Early Phase 1
25 Pyridostigmine Bromide Phase 4,Phase 2,Phase 1,Early Phase 1 101-26-8
26 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
27 Atomoxetine Hydrochloride Phase 4,Phase 3,Phase 2,Phase 1
28 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
29 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1
30
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
31
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
32
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
33
Levodopa Approved Phase 3,Phase 1,Early Phase 1 59-92-7 6047
34
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
35
Carbidopa Approved Phase 2, Phase 3, Phase 1 28860-95-9 38101 34359
36
Methyldopa Approved Phase 3,Phase 1 555-30-6 38853
37
Losartan Approved Phase 3,Early Phase 1 114798-26-4 3961
38
Benzocaine Approved, Investigational Phase 2, Phase 3 1994-09-7, 94-09-7 2337
39
Metoclopramide Approved, Investigational Phase 3,Phase 1 364-62-5 4168
40
Atenolol Approved Phase 3,Phase 1,Phase 2 29122-68-7 2249
41 tannic acid Approved, Nutraceutical Phase 2, Phase 3
42 Antiemetics Phase 2, Phase 3, Phase 1
43 Antineoplastic Agents, Hormonal Phase 2, Phase 3,Phase 1
44 Gastrointestinal Agents Phase 2, Phase 3, Phase 1, Early Phase 1
45 glucocorticoids Phase 2, Phase 3
46 Hormone Antagonists Phase 2, Phase 3
47 Hormones Phase 2, Phase 3
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
49 Methylprednisolone acetate Phase 2, Phase 3
50 Methylprednisolone Hemisuccinate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 209)

# Name Status NCT ID Phase Drugs
1 Closed Loop Stimulation for Neuromediated Syncope (SPAIN Study) Unknown status NCT01621464 Phase 4
2 Radical Prostatectomy and Perioperative Fluid Therapy Completed NCT00771966 Phase 4
3 Propranolol to Treat Fainting Due to Sympathoadrenal Imbalance Completed NCT00060866 Phase 4 Propranolol
4 Treatment and Prognosis of Neurogenic Orthostatic Hypotension : A Prospective Randomized Study Completed NCT02308124 Phase 4 Midodrine;Pyridostigmine Bromide;Midodrine + pyridostigmine
5 Tilt-Table Study of the Clinical Efficacy of Midodrine in Symptomatic Orthostatic Hypotension Completed NCT01518946 Phase 4 Midodrine HCl;Placebo
6 Clinical Efficacy of Midodrine in Symptomatic Orthostatic Hypotension Completed NCT01515865 Phase 4 Midodrine HCl;Placebo
7 Study to Assess the Benefit of Midodrine in the Treatment of Patients With Neurogenic Orthostatic Hypotension Completed NCT00555880 Phase 4 Midodrine hydrochloride;Placebo
8 A Study for Patients With Neurogenic Orthostatic Hypotension Completed NCT00046475 Phase 4 Midodrine Hydrochloride
9 Clinical Trial for the Prevention of Vasovagal Syncope Completed NCT00118482 Phase 4 fludrocortisone acetate
10 Efficacy and Safety of Midodrine and Atomoxetine for Neurogenic OH Recruiting NCT03350659 Phase 4 Midodrine;Atomoxetine
11 Dawn Simulation and Postural Hypotension Recruiting NCT02632318 Phase 4
12 Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension Recruiting NCT02586623 Phase 4 Droxidopa capsules;Placebo capsules
13 Assessment of Metoprolol in the Prevention of Vasovagal Syncope in Aging Subjects Recruiting NCT02123056 Phase 4 Metoprolol;Matching Placebo
14 Assessment of Midodrine in the Prevention of Vasovagal Syncope: The Prevention of Syncope Trial IV Recruiting NCT01456481 Phase 4 midodrine hydrochloride;matching placebo
15 Effect of Medical Treatment and Prognosis of Postural Orthostatic Tachycardia Syndrome (POTS) Active, not recruiting NCT02171988 Phase 4 Propranolol;Bisoprolol;Propranolol+pyridostigmine;Bisoprolol+pyridostgmine
16 Brain Perfusion & Oxygenation in Parkinson's Disease With NOH Not yet recruiting NCT03229174 Phase 4 Droxidopa;Placebo
17 A Phase IV Study in Subjects With Neurogenic Orthostatic Hypotension Terminated NCT00046163 Phase 4 midodrine hydrochloride (ProAmatine®)
18 Post-Exercise Hypotension in Elderly Hypertensive Men Unknown status NCT02415582 Phase 3
19 Effect of Methylprednisolone on Orthostatic Intolerance and Heart Rate Variability in Hip-arthroplasty Patients Completed NCT02445898 Phase 2, Phase 3 Methylprednisolone;Isotonic Sodium Chloride
20 Efficacy of Midodrine for the Prevention of Orthostatic Hypotension During Early Mobilization After Fast-track Hip Arthroplasty Completed NCT01707953 Phase 3 Midodrine;Placebo
21 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) (Droxi-304) Completed NCT01132326 Phase 3 Droxidopa
22 A Clinical Study for Patients With Neurogenic Orthostatic Hypotension (NOH) Using Droxidopa Completed NCT00782340 Phase 3 Placebo;Droxidopa
23 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00633880 Phase 3 Placebo;Droxidopa
24 Stop Vasodepressor Drugs in Reflex Syncope Completed NCT02137278 Phase 3 Vasoactive drug therapies
25 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3 Droxidopa;Placebo
26 A Two Part Study (306A/306B) to Assess Droxidopa in Treatment of NOH in Patients With Parkinson's Disease Completed NCT01176240 Phase 3 Droxidopa
27 Efficacy of L-threo DOPS on Orthostatic Hypotension Symptoms and Other Non-motor Symptoms in Patients With MSA Recruiting NCT02071459 Phase 2, Phase 3 L-Threo DOPS;placebo
28 Effect of Ivabradine on Patients With Postural Orthostatic Tachycardia Syndrome Recruiting NCT03182725 Phase 3 Ivabradine;Placebo
29 Treatment of Post-SCI Hypotension Recruiting NCT02919917 Phase 2, Phase 3 Midodrine Hydrochloride;Midodrine Hydrochloride
30 Peripheral Dopamine in Postural Tachycardia Syndrome Active, not recruiting NCT00685919 Phase 2, Phase 3 Carbidopa;Placebo
31 Treatment of Orthostatic Hypotension Enrolling by invitation NCT00581477 Phase 3 droxidopa;placebo;alpha-methyldopa;carbidopa;metyrosine;levodopa;atomoxetine;metoclopramide
32 A Study to Systematically Assess the Efficacy and Safety of Intravenous Albumin Infusions in Severe POTS Not yet recruiting NCT03365414 Phase 3 Normal Saline 0.9% Infusion Solution Bag
33 Phase 3 Study to Evaluate the Efficacy and Safety of Droxidopa on Orthostatic Hypotension Treatment in Hemodialysis Patients Terminated NCT01612078 Phase 3 Droxidopa;Placebo
34 A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
35 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome Withdrawn NCT01361087 Phase 3
36 Orthostatic Hypotension in Children With Acute Febrile Illness Unknown status NCT00452712 Phase 2
37 The Effect of Ivabradine on Patients With Postural Tachycardia Syndrome Unknown status NCT01761825 Phase 2 ivabradine
38 Cardiovascular Effects of Selective I(f)-Channel Blockade Unknown status NCT00865917 Phase 2 beta-blocker (Metoprolol);I(f)-blocker (ivabradine);Placebo
39 Fipamezole in Neurogenic Orthostatic Hypotension Unknown status NCT00758849 Phase 2 Placebo;Fipamezole
40 Safety and Efficacy Study of a New Device for Making Neochordae in Mitral Valve Repair Unknown status NCT01811537 Phase 1, Phase 2
41 Sex Hormones and Orthostatic Tolerance Completed NCT01153581 Phase 2 Ganirelix acetate;17β-Oestradiol;Progesterone
42 Non-Pharmacologic Therapy for Neurocardiogenic Syncope Completed NCT00096902 Phase 2
43 Propranolol to Treat Fainting in Children With Sympathoadrenal Imbalance Completed NCT00093860 Phase 2 Propranolol
44 Acetylcholinesterase Inhibition and Orthostatic Hypotension in SCI Completed NCT02307526 Phase 2 Pyridostigmine Bromide
45 Intravenous Norepinephrine for Orthostatic Hypotension Completed NCT01285908 Phase 1, Phase 2 Intravenous Norepinephrine Infusion
46 Phase II Study of Midodrine for Neurogenic Orthostatic Hypotension Completed NCT00004268 Phase 2 midodrine
47 Abdominal Binder to Treat Orthostatic Hypotension (OH) in Parkinson's Disease (PD) Completed NCT01971008 Phase 2
48 Transcranial Electrical Stimulation for Management of Orthostatic Instability in Acute Cervical Spinal Cord Injury Completed NCT01874782 Phase 2
49 Safety and Efficacy of L-NAME and Midodrine to Increase MAP Completed NCT00835224 Phase 2 L-NAME;Midodrine;Placebo
50 A Dose Response Trial Using 5 and 10 Mg of Midodrine Hydrochloride Completed NCT00426842 Phase 2 Midodrine Hydrochloride

Search NIH Clinical Center for Orthostatic Intolerance

Cochrane evidence based reviews: neurocirculatory asthenia

Genetic Tests for Orthostatic Intolerance

Genetic tests related to Orthostatic Intolerance:

# Genetic test Affiliating Genes
1 Orthostatic Intolerance 28 SLC6A2
2 Mitral Valve Prolapse 28

Anatomical Context for Orthostatic Intolerance

MalaCards organs/tissues related to Orthostatic Intolerance:

38
Heart, Brain, Lung, Testes, Spinal Cord, Endothelial, Eye

Publications for Orthostatic Intolerance

Articles related to Orthostatic Intolerance:

(show top 50) (show all 851)
# Title Authors Year
1
Unusual combination of mitral valve prolapse, bicuspid aortic valve, and ventricular septal defect restricted by the tricuspid septal leaflet. ( 29339711 )
2018
2
Intravenous saline administration in patients with severe acquired brain injury and orthostatic intolerance for tilt-table mobilization. ( 29190150 )
2018
3
Pediatric Disorders of Orthostatic Intolerance. ( 29222399 )
2018
4
Prefrontal hemodynamic changes measured using near-infrared spectroscopy during the Valsalva maneuver in patients with orthostatic intolerance. ( 29392157 )
2018
5
Monitoring of cerebral oximetry during head-up tilt test in adults with history of syncope and orthostatic intolerance. ( 29036615 )
2017
6
Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance. ( 27773421 )
2017
7
Novel insights into symptomatology of moyamoya disease in pediatric patients: survey of symptoms suggestive of orthostatic intolerance. ( 28862519 )
2017
8
Truncal ataxia or disequilibrium is an unrecognised cause of orthostatic intolerance in patients with myalgic encephalomyelitis. ( 28613452 )
2017
9
Cardiovascular and Cutaneous Responses to the Combination of Alcohol and Soft Drinks: The Way to Orthostatic Intolerance? ( 29176950 )
2017
10
Association of blood pressure variability with orthostatic intolerance symptoms. ( 28591231 )
2017
11
Early Orthostatic Hypotension and Orthostatic Intolerance-More Than an Observation or Annoyance. ( 28738118 )
2017
12
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? ( 28286774 )
2017
13
Syndromes of orthostatic intolerance and syncope in young adults. ( 28674628 )
2017
14
The role of autoantibodies in the syndromes of orthostatic intolerance: a systematic review. ( 28738696 )
2017
15
Patients with Orthostatic Intolerance: Relationship to Autonomic Function Tests results and Reproducibility of Symptoms on Tilt. ( 28720881 )
2017
16
Orthostatic Intolerance in Older Persons: Etiology and Countermeasures. ( 29163185 )
2017
17
The effects of body weight status on orthostatic intolerance and predisposition to noncardiac syncope. ( 28112481 )
2017
18
Distinct neurohumoral biomarker profiles in children with hemodynamically defined orthostatic intolerance may predict treatment options. ( 26608337 )
2016
19
Antroduodenal Manometry is Abnormal in Children Presenting with Orthostatic Intolerance and Gastrointestinal Symptoms. ( 26859090 )
2016
20
Postoperative orthostatic intolerance: a common perioperative problem with few available solutions. ( 27638295 )
2016
21
Detailed Relationship Between the Pattern of Blood Pressure Change During the Valsalva Maneuver and the Degree of Orthostatic Hypotension During the Head-Up Tilt Test in Patients With Orthostatic Intolerance: A Retrospective Case-Control Study. ( 27175668 )
2016
22
Orthostatic intolerance symptoms are associated with depression and diminished quality of life in patients with postural tachycardia syndrome. ( 27729043 )
2016
23
Orthostatic hypertension: An underestimated cause of orthostatic intolerance. ( 26806722 )
2016
24
Dizziness and Orthostatic Intolerance In Pediatric Headache Patients. ( 27017026 )
2016
25
Reduced Systolic Volume: Main Pathophysiological Mechanism in Patients with Orthostatic Intolerance? ( 27849259 )
2016
26
Adolescent Chronic Fatigue and Orthostatic Intolerance: Relationships Between Parental Attributes and Child Functioning. ( 27421749 )
2016
27
Orthostatic intolerance and autonomic dysfunction following bariatric surgery: A retrospective study and review of the literature. ( 27292926 )
2016
28
A Rare Case of Mitral Valve Prolapse in Endomyocardial Fibrosis. ( 27549547 )
2016
29
A rare case of right sided pulmonary artery agenesis associated with congenital mitral valve prolapse. ( 27481086 )
2016
30
Mechanisms of orthostatic intolerance during heat stress. ( 26723547 )
2016
31
Hiatal hernia, mitral valve prolapse and defecatory disorders: An underlying rectal prolapse? ( 26925980 )
2016
32
Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome. ( 27094596 )
2016
33
New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse. ( 25899461 )
2015
34
Cerebral hemodynamics in orthostatic intolerance with normal head-up tilt test. ( 26427910 )
2015
35
Mutations in DCHS1 cause mitral valve prolapse. ( 26258302 )
2015
36
Orthostatic Intolerance After ISS and Space Shuttle Missions. ( 26630196 )
2015
37
Orthostatic intolerance and postural tachycardia syndrome as suspected adverse effects of vaccination against human papilloma virus. ( 25882168 )
2015
38
Idiopathic mitral valve prolapse with tricuspid, aortic and pulmonary valve involvement: An autopsy case report. ( 25885138 )
2015
39
Autonomic activity and biomarker behavior in supine position and after passive postural stress in different orthostatic intolerance syndromes. ( 26320094 )
2015
40
Mitral valve prolapse and glaucoma: a 'floppy' perception? ( 25637370 )
2015
41
TGF-beta1 pathway activation and adherens junction molecular pattern in nonsyndromic mitral valve prolapse. ( 26345253 )
2015
42
Orthostatic Intolerance and Autonomic Dysfunction in Youth With Persistent Postconcussion Symptoms: A Head-Upright Tilt Table Study. ( 25706664 )
2015
43
Orthostatic Intolerance Is Independent of the Degree of Autonomic Cardiovascular Adaptation after 60 Days of Head-Down Bed Rest. ( 26425559 )
2015
44
Orthostatic hypotension, orthostatic intolerance and frailty: The Irish Longitudinal Study on Aging-TILDA. ( 25687529 )
2015
45
Postexercise orthostatic intolerance: influence of exercise intensity. ( 26040636 )
2015
46
Cerebral blood flow during HUTT in young patients with orthostatic intolerance. ( 26280217 )
2015
47
Intravenous Hydration for Management of Medication-Resistant Orthostatic Intolerance in the Adolescent and Young Adult. ( 26446285 )
2015
48
Orthostatic intolerance in acute vestibular neuritis. ( 25659247 )
2015
49
Slower lower limb blood pooling in young women with orthostatic intolerance. ( 25557726 )
2015
50
Variability of postural orthostatic tachycardia in patients with myalgic encephalomyelitis and orthostatic intolerance. ( 26374335 )
2015

Variations for Orthostatic Intolerance

UniProtKB/Swiss-Prot genetic disease variations for Orthostatic Intolerance:

71
# Symbol AA change Variation ID SNP ID
1 SLC6A2 p.Ala457Pro VAR_010022 rs121918126

ClinVar genetic disease variations for Orthostatic Intolerance:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC6A2 NM_001172504.1(SLC6A2): c.1369G> C (p.Ala457Pro) single nucleotide variant Pathogenic rs121918126 GRCh37 Chromosome 16, 55731917: 55731917
2 FBN1 NM_000138.4(FBN1): c.6800A> T (p.Asn2267Ile) single nucleotide variant Pathogenic rs1057518812 GRCh38 Chromosome 15, 48430742: 48430742

Expression for Orthostatic Intolerance

Search GEO for disease gene expression data for Orthostatic Intolerance.

Pathways for Orthostatic Intolerance

Pathways related to Orthostatic Intolerance according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2 AGTR1
2
Show member pathways
12.51 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2 AGTR1
3
Show member pathways
12.33 ADRA2A ADRA2B ADRA2C ADRB2 POMC
4
Show member pathways
12.07 ADRB1 ADRB2 AGTR1 NOS2 NOS3
5
Show member pathways
12 ADRA2A ADRA2B ADRA2C NOS2 NOS3
6 11.76 EDN1 NOS2 NOS3
7 11.75 AGTR1 EDN1 NOS3
8
Show member pathways
11.73 ADRA2A ADRA2B ADRA2C
9
Show member pathways
11.72 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2
10 11.69 ECE1 NOS3 POMC
11 11.51 ADRB1 ADRB2 AGTR1
12 11.42 ADRA2A ADRB1 ADRB2
13
Show member pathways
11.27 ACHE DBH SLC6A2
14 11.24 ADRA2A ADRA2B ADRB1 ADRB2
15 11.02 ACHE ADRB1 ECE1 EDN1
16 10.79 ADRB1 ECE1 EDN1 NOS3
17 10.65 NOS2 NOS3
18 10.53 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2 DBH
19 10.41 NOS2 NOS3

GO Terms for Orthostatic Intolerance

Cellular components related to Orthostatic Intolerance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 ACHE ADRA2A ADRA2B ADRA2C ADRB1 ADRB2
2 integral component of plasma membrane GO:0005887 9.5 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2 AGTR1
3 Weibel-Palade body GO:0033093 8.62 ECE1 EDN1

Biological processes related to Orthostatic Intolerance according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.93 ADRA2B ADRA2C ADRB1 ADRB2 EDN1 POMC
2 platelet activation GO:0030168 9.82 ADRA2A ADRA2B ADRA2C
3 kidney development GO:0001822 9.81 AGTR1 DCHS1 FBN1
4 glucose homeostasis GO:0042593 9.8 ADRA2A DBH POMC
5 positive regulation of MAPK cascade GO:0043410 9.78 ADRA2A ADRA2B ADRA2C ADRB2
6 regulation of insulin secretion GO:0050796 9.75 ADRA2A ADRA2C NOS2
7 regulation of blood pressure GO:0008217 9.74 EDN1 NOS3 POMC
8 activation of protein kinase B activity GO:0032148 9.72 ADRA2A ADRA2B ADRA2C
9 response to pain GO:0048265 9.65 DBH SLC6A2
10 regulation of sodium ion transport GO:0002028 9.65 ADRB2 NOS3
11 regulation of blood vessel size GO:0050880 9.64 EDN1 NOS3
12 nitric oxide mediated signal transduction GO:0007263 9.64 NOS2 NOS3
13 negative regulation of cAMP biosynthetic process GO:0030818 9.62 ADRA2A EDN1
14 regulation of blood vessel diameter GO:0097746 9.62 ADRB2 AGTR1
15 nitric oxide biosynthetic process GO:0006809 9.61 NOS2 NOS3
16 negative regulation of calcium ion transport GO:0051926 9.61 ADRA2A NOS3
17 negative regulation of norepinephrine secretion GO:0010700 9.61 ADRA2A ADRA2B ADRA2C
18 negative regulation of multicellular organism growth GO:0040015 9.6 ADRB1 ADRB2
19 positive regulation of guanylate cyclase activity GO:0031284 9.59 NOS2 NOS3
20 diet induced thermogenesis GO:0002024 9.58 ADRB1 ADRB2
21 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.58 ECE1 EDN1 NOS3
22 arginine catabolic process GO:0006527 9.56 NOS2 NOS3
23 regulation of smooth muscle contraction GO:0006940 9.56 ADRA2A ADRA2B ADRA2C ADRB2
24 fear response GO:0042596 9.54 ADRB1 DBH
25 epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway GO:0035625 9.54 ADRA2A ADRA2B ADRA2C
26 heat generation GO:0031649 9.52 ADRB1 ADRB2
27 norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure GO:0002025 9.51 ADRB1 ADRB2
28 negative regulation of epinephrine secretion GO:0032811 9.5 ADRA2A ADRA2B ADRA2C
29 adrenergic receptor signaling pathway GO:0071875 9.46 ADRA2A ADRA2B ADRA2C ADRB2
30 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.35 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2
31 regulation of vasoconstriction GO:0019229 9.1 ADRA2A ADRA2B ADRA2C AGTR1 ECE1 EDN1
32 G-protein coupled receptor signaling pathway GO:0007186 10.1 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2 AGTR1

Molecular functions related to Orthostatic Intolerance according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor activity GO:0004930 9.99 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2 AGTR1
2 protein homodimerization activity GO:0042803 9.97 ACHE ADRA2A ADRA2C ADRB2 ECE1 NOS2
3 signal transducer activity GO:0004871 9.85 ADRA2A ADRA2B ADRB1 ADRB2 AGTR1
4 hormone activity GO:0005179 9.71 EDN1 FBN1 POMC
5 FMN binding GO:0010181 9.52 NOS2 NOS3
6 arginine binding GO:0034618 9.48 NOS2 NOS3
7 NADPH-hemoprotein reductase activity GO:0003958 9.43 NOS2 NOS3
8 norepinephrine binding GO:0051380 9.43 ADRA2A ADRB1 ADRB2
9 alpha-2A adrenergic receptor binding GO:0031694 9.4 ADRA2C ADRB1
10 tetrahydrobiopterin binding GO:0034617 9.37 NOS2 NOS3
11 adrenergic receptor activity GO:0004935 9.35 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2
12 alpha2-adrenergic receptor activity GO:0004938 9.33 ADRA2A ADRA2B ADRA2C
13 nitric-oxide synthase activity GO:0004517 9.32 NOS2 NOS3
14 epinephrine binding GO:0051379 9.02 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2

Sources for Orthostatic Intolerance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....