OI
MCID: ORT004
MIFTS: 63

Orthostatic Intolerance (OI)

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

Aliases & Classifications for Orthostatic Intolerance

MalaCards integrated aliases for Orthostatic Intolerance:

Name: Orthostatic Intolerance 56 74 73 36 29 13 6 17
Mitral Valve Prolapse 12 74 36 29 54 6 42 43 15 62
Neurocirculatory Asthenia 56 12 43 15 71
Mitral Valve Prolapse Syndrome 56 71
Irritable Heart 56 71
Familial Orthostatic Tachycardia Due to Norepinephrine Transporter Deficiency 58
Postural Orthostatic Tachycardia Syndrome Due to Net Deficiency 58
Cardiovascular Malfunction Arising from Mental Factors 12
Orthostatic Intolerance Due to Net Deficiency 58
Mitral Valve Prolapse, Familial, X-Linked 71
Myxomatous Mitral Valve Prolapse 12
Systolic Click-Murmur Syndrome 12
Pots Due to Net Deficiency 58
Intolerance, Orthostatic 39
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 56
Oi 73

Characteristics:

Orphanet epidemiological data:

58

HPO:

31
orthostatic intolerance:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:11569 DOID:988
OMIM 56 604715
ICD9CM 34 306.2
NCIt 49 C50655
ICD10 via Orphanet 33 I95.1
Orphanet 58 ORPHA443236
SNOMED-CT via HPO 68 263681008
UMLS 71 C0026267 C0027821 C2930833 more

Summaries for Orthostatic Intolerance

KEGG : 36 Mitral valve prolapse (MVP) is a very common clinical condition that refers to a systolic billowing of one or both mitral valve leaflets into the left atrium. MVP can be associated with significant mitral regurgitation (MR), bacterial endocarditis, congestive heart failure, and even sudden death. According to the presently used echocardiographic criteria, MVP is defined as an upward displacement of the mitral leaflets that exceeds 2 mm during diastole. In classical MVP, the leaflets' maximal thickness is >5 mm, whereas in non-classical MVP it remains <5 mm. MVP may or may not have associated mitral regurgitation. MVP can be distinguished into primary or nonsyndromic MVP and secondary or syndromic MVP. In the latter case, MVP occurs in the presence of connective tissue disorders such as Marfan syndrome (MFS) [DS:H00653], Loeys-Dietz syndrome [DS:H00800], Ehlers-Danlos syndrome [DS:H00802], and osteogenesis imperfecta [DS:H00506]. Nonsyndromic MVP can be sporadic or familial, demonstrating autosomal dominant and X-linked inheritance. Three different loci on chromosomes 16, 11 and 13 have been found to be linked to MVP. Another locus on chromosome X has been found to cosegregate with a rare form of MVP called X-linked myxomatous valvular dystrophy.

MalaCards based summary : Orthostatic Intolerance, also known as mitral valve prolapse, is related to postural orthostatic tachycardia syndrome and mitral valve insufficiency, and has symptoms including angina pectoris, 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 cGMP-PKG signaling pathway and AGE-RAGE signaling pathway in diabetic complications. The drugs Methylprednisolone and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and kidney, and related phenotypes are orthostatic tachycardia and cardiovascular system

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.

MedlinePlus : 42 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

UniProtKB/Swiss-Prot : 73 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 : 62 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 : 74 Mitral valve prolapse (MVP) is a valvular heart disease characterized by the displacement of an... more...

More information 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 487)
# Related Disease Score Top Affiliating Genes
1 postural orthostatic tachycardia syndrome 34.5 SLC6A2 FBN1
2 mitral valve insufficiency 31.9 PDLIM1 MIR423 FBN1 ELN
3 tricuspid valve prolapse 31.8 PDLIM1 FBN1
4 coronary artery anomaly 31.8 NOS3 ELN EDN1 AGTR1
5 arteries, anomalies of 31.7 NOS3 MIR423 EDN1 AGTR1
6 pulmonary hypertension 31.7 TRPC1 NOX4 NOS3 EDN1 AGTR1
7 connective tissue disease 31.6 PLOD1 MIR423 FBN1 ELN EDN1
8 hypermobile ehlers-danlos syndrome 31.4 PLOD1 FBN1
9 patent ductus arteriosus 1 31.4 FBN1 ELN EDN1
10 arteriosclerosis 31.3 NOS3 FBN1 ELN EDN1
11 impotence 31.3 POMC NOS3 EDN1
12 heart valve disease 31.3 PDLIM1 MIR423 FBN1 ELN EDN1
13 pulmonary edema 31.2 NOS3 EDN1 AGTR1
14 intraocular pressure quantitative trait locus 31.2 FBN1 ELN EDN1 ACHE
15 coronary artery vasospasm 31.1 NOS3 EDN1 ADRA2B ADRA2A
16 brittle bone disorder 31.1 PLOD1 FBN1 ELN
17 scleroderma, familial progressive 31.1 FBN1 EDN1
18 body mass index quantitative trait locus 11 31.1 SLC6A2 POMC NOS3 MIR423 EDN1 ADRA2A
19 nonarteritic anterior ischemic optic neuropathy 31.1 NOS3 EDN1 AGTR1
20 atrial heart septal defect 31.1 FBN1 ELN EDN1
21 myocardial infarction 31.0 NOS3 MIR423 ELN EDN1 AGTR1 ADRA2B
22 mitral valve disease 31.0 NOS3 MIR423 FBN1 ELN AGTR1
23 coronary heart disease 1 31.0 NOS3 EDN1 AGTR1
24 portal hypertension 31.0 NOS3 ELN EDN1 AGTR1
25 collagen disease 31.0 PLOD1 FBN1 ELN EDN1
26 pulmonary valve insufficiency 31.0 FBN1 EDN1
27 pain agnosia 31.0 POMC ADRA2B ADRA2A
28 renovascular hypertension 31.0 NOS3 EDN1 AGTR1
29 loeys-dietz syndrome 30.9 FBN1 ELN AGTR1
30 aortic valve disease 1 30.9 PLOD1 NOS3 FBN1 ELN EDN1 AGTR1
31 aortic valve disease 2 30.9 PDLIM1 NOS3 MIR423 FBN1 ELN
32 open-angle glaucoma 30.8 NOS3 ELN EDN1
33 heart disease 30.7 NOS3 MIR423 FBN1 ELN EDN1 AGTR1
34 marfan syndrome 30.7 FBN1 ELN AGTR1
35 hypertension, essential 30.6 TRPC1 SLC7A1 SLC6A2 POMC NOX4 NOS3
36 mitral valve prolapse 2 13.1
37 mitral valve prolapse 3 13.0
38 chronic orthostatic intolerance 12.7
39 mitral valve prolapse, familial, autosomal dominant 12.6
40 hypogonadism-mitral valve prolapse-intellectual disability syndrome 12.6
41 osteogenesis imperfecta, type v 12.4
42 osteogenesis imperfecta, type iv 12.4
43 osteogenesis imperfecta, type ii 12.4
44 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 12.3
45 osteogenesis imperfecta, type iii 12.3
46 osteogenesis imperfecta, type i 12.2
47 osteogenesis imperfecta, type viii 12.1
48 osteogenesis imperfecta, type xiii 12.1
49 osteogenesis imperfecta, type xiv 12.1
50 osteogenesis imperfecta, type xv 12.1

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



Diseases related to Orthostatic Intolerance

Symptoms & Phenotypes for Orthostatic Intolerance

Human phenotypes related to Orthostatic Intolerance:

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

Clinical features from OMIM:

604715

UMLS symptoms related to Orthostatic Intolerance:


angina pectoris, edema, chest pain

MGI Mouse Phenotypes related to Orthostatic Intolerance:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 ADAM8 ADRA2A ADRA2B AGTR1 EDN1 FBN1
2 homeostasis/metabolism MP:0005376 10.07 ACHE ADAM8 ADRA2A ADRA2B AGTR1 EDN1
3 mortality/aging MP:0010768 9.97 ACHE ADRA2A ADRA2B AGTR1 EDN1 FBN1
4 muscle MP:0005369 9.5 ACHE ADRA2B EDN1 FBN1 NOS3 NOX4
5 renal/urinary system MP:0005367 9.17 ADRA2B AGTR1 EDN1 FBN1 NOS3 NOX4

Drugs & Therapeutics for Orthostatic Intolerance

PubMed Health treatment related to Orthostatic Intolerance: 62

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 complications Relieving symptoms Correcting the underlying mitral valve problem, if necessary

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

(show top 50) (show all 187)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
4
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
5 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Droxidopa Approved, Investigational Phase 4 23651-95-8 443940
7
Norepinephrine Approved Phase 4 51-41-2 439260
8
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
9
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
10
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
11 Adrenergic Agonists Phase 4
12 Vasoconstrictor Agents Phase 4
13 Gastrointestinal Agents Phase 4
14 Methylprednisolone Acetate Phase 4
15 Neuroprotective Agents Phase 4
16 Protective Agents Phase 4
17 Liver Extracts Phase 4
18 Autonomic Agents Phase 4
19 Antiemetics Phase 4
20 Anti-Inflammatory Agents Phase 4
21 Hormone Antagonists Phase 4
22 Antineoplastic Agents, Hormonal Phase 4
23 glucocorticoids Phase 4
24 Hormones Phase 4
25
protease inhibitors Phase 4
26 HIV Protease Inhibitors Phase 4
27 BB 1101 Phase 4
28
Midodrine Approved Phase 3 42794-76-3, 133163-28-7 4195
29
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
30
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
31
Methyldopa Approved Phase 3 555-30-6 38853
32
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
33
Levodopa Approved Phase 3 59-92-7 6047
34
Carbidopa Approved Phase 3 28860-95-9 34359
35
Nitroarginine Experimental, Investigational Phase 2, Phase 3 2149-70-4
36 NG-Nitroarginine Methyl Ester Phase 2, Phase 3
37 Sympathomimetics Phase 2, Phase 3
38 Antiparkinson Agents Phase 2, Phase 3
39 Dopamine Agents Phase 3
40 Adrenergic alpha-2 Receptor Agonists Phase 3
41 Atomoxetine Hydrochloride Phase 3
42 Dopamine D2 Receptor Antagonists Phase 3
43 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
44 alpha-methyltyrosine Phase 3
45 Dopamine Antagonists Phase 3
46 Pharmaceutical Solutions Phase 3
47 Plasma Substitutes Phase 3
48
Arginine Investigational, Nutraceutical Phase 2, Phase 3 74-79-3 6322
49
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
50
Polyestradiol phosphate Approved Phase 2 28014-46-2

Interventional clinical trials:

(show top 50) (show all 125)
# Name Status NCT ID Phase Drugs
1 Radical Prostatectomy and Perioperative Fluid Therapy Completed NCT00771966 Phase 4
2 Propranolol for Syncope With Sympathoadrenal Imbalance Completed NCT00060866 Phase 4 Propranolol
3 High vs Low Dose Dexamethasone on Complications in the Immediate Postoperative Phase After Periacetabular (GANZ) Osteotomy Completed NCT03161938 Phase 4 Dexamethasone
4 Effect of High vs Low Dose Intravenous Dexamethasone on Complications in the Immediate Postoperative Phase After Mastectomy- a Randomized, Double-blind, Controlled Trial Completed NCT03125941 Phase 4 Dexamethasone
5 Dose Response to the Norepinephrine Precursor Droxidopa in Hypotensive Individuals With Spinal Cord Injury Recruiting NCT03602014 Phase 4 Northera
6 High Dose Steroids for Liver Resection - Effect on Complications and Endothelial Function in the Immediate Postoperative Phase - a Randomized, Doubleblind, Controlled Trial Recruiting NCT03403517 Phase 4 Methylprednisolone;Dexamethasone
7 High vs Low Dose Dexamethasone on Complications in the Immediate Postoperative Phase After Nephrectomy (DEX-NEF) Terminated NCT03160729 Phase 4 Dexamethasone
8 Effect of Preoperative Intravenous High Dose Methylprednisolone on Orthostatic Intolerance and Heart Rate Variability in Patients Scheduled for Total Hip-arthroplasty Completed NCT02445898 Phase 2, Phase 3 Methylprednisolone;Isotonic Sodium Chloride
9 Efficacy of Midodrine for the Prevention of Orthostatic Hypotension During Early Mobilization After Fast-track Hip Arthroplasty - a Randomized, Placebo Controlled Trial. Completed NCT01707953 Phase 3 Midodrine;Placebo
10 Prevention of Low Blood Pressure in Persons With Tetraplegia Completed NCT00237770 Phase 2, Phase 3 N-Nitro L-arginine-methylester (L-NAME)
11 Kidney Dopamine Effects on Urinary Sodium Excretion in Postural Tachycardia Syndrome Active, not recruiting NCT00685919 Phase 2, Phase 3 Carbidopa;Placebo
12 Treatment of Hypotensive Patients Having a Unique Pattern of Autonomic Symptoms Enrolling by invitation NCT00581477 Phase 3 droxidopa;placebo;alpha-methyldopa;carbidopa;metyrosine;levodopa;atomoxetine;metoclopramide
13 A Double Blind Randomized Controlled Crossover Study to Systematically Assess the Efficacy and Safety of Intravenous Albumin Infusions in Severe Postural Orthostatic Tachycardia Syndrome Not yet recruiting NCT03365414 Phase 3 Normal Saline 0.9% Infusion Solution Bag
14 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Withdrawn NCT01361087 Phase 3
15 Phase II Study of Using a New Device (Neochordameter) in Making Artificial Chordae for Mitral Valve Repair Unknown status NCT01811537 Phase 1, Phase 2
16 Sex Hormones and Orthostatic Tolerance Completed NCT01153581 Phase 2 Ganirelix acetate;17β-Oestradiol;Progesterone
17 A Study of the Evalve Cardiovascular Valve Repair System Endovascular Valve Edge-to-Edge REpair STudy (EVEREST I). Completed NCT00209339 Phase 1, Phase 2
18 A Phase 2 Study to Assess the Effect of TD-9855 in Subjects With Neurogenic Orthostatic Hypotension Completed NCT02705755 Phase 2 TD-9855;Placebo
19 Pilot Phase 1/2, Open-Label, Clinical Trial to Investigate CT38 in the Treatment of Myalgic Encephalomyelitis / Chronic Fatigue Syndrome Completed NCT03613129 Phase 1, Phase 2 CT38
20 Non-Pharmacologic Therapy for Neurocardiogenic Syncope Completed NCT00096902 Phase 2
21 Propranolol for Syncope With Sympathoadrenal Imbalance in Children Completed NCT00093860 Phase 2 Propranolol
22 Safety and Efficacy of Intravenous Norepinephrine for Orthostatic Hypotension Completed NCT01285908 Phase 1, Phase 2 Intravenous Norepinephrine Infusion
23 Northera Improves Postural Tachycardia Syndrome (POTS) and Postural Recruiting NCT02558972 Phase 2 Northera (Droxidopa);Placebo;Northera (Droxidopa);Placebo
24 Treatment of Orthostatic Intolerance Active, not recruiting NCT00262470 Phase 1, Phase 2 Acetazolamide;Atomoxetine;Clonidine;Entacapone;Entacapone & Propranolol;Atomoxetine & Propranolol;Indomethacin;Mecamylamine;Isosorbide Dinitrate;Midodrine;Modafinil;Octreotide;Propranolol;Modafinil & Propranolol;Sertraline;memantine
25 A Randomized Crossover Study of Propranolol Versus Ivabradine in Postural Tachycardia Syndrome (POTS) Not yet recruiting NCT04186286 Phase 2 Ivabradine 4-week course;Propranolol 4-week course;Placebo 4-week course
26 V-Chordal Adjustable System for Chordal Replacement in Mitral Valve Insufficiency Due to Leaflet Prolapse Terminated NCT01415947 Phase 2
27 A Double-Blinded, Placebo-Controlled Study To Assess Hemodynamic Changes, Orthostatic Tolerance, Out-Patient Fatigue And Quality Of Life In Neuropathic And Non-Neuropathic POTS Patients In Response To Adrenoreceptor Agonist And Antagonist Terminated NCT03070730 Phase 1, Phase 2 Droxidopa;Atenolol;Placebos
28 A Randomized, Controlled, Double Blinded Clinical Trial of Intravenous Iron Sucrose in Adolescents With Non-anemic Iron Deficiency and Postural Orthostatic Tachycardia Syndrome (POTS) Terminated NCT01978535 Phase 1, Phase 2 Iron infusion;Normal saline infusion
29 Clinical Assessment of the St. Jude Medical (SJM) Percutaneous Mitral Valve Repair (PMVr) Device Concept Completed NCT01500148 Phase 1
30 The Renin-Aldosterone Axis in Postural Tachycardia Syndrome Completed NCT00962949 Phase 1 Angiotensin II
31 Orthostatic Tolerance During FES-evoked Stepping in Paraplegia: A Safety and Viability Study Completed NCT00108043 Phase 1
32 Autonomic Nervous System and Chronic Fatigue Syndrome Completed NCT00580619 Phase 1 L-NMMA trimethaphan;methyldopa
33 Orthostatic Intolerance After Bariatric Surgery Recruiting NCT03808740 Phase 1 Atomoxetine;Placebo
34 Reducing Orthostatic Intolerance With Oral Rehydration in Patients With Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Active, not recruiting NCT02854683 Phase 1 Normal Saline
35 The Pathophysiology of Orthostatic Hypotension Active, not recruiting NCT00748059 Phase 1 phenylephrine,isoproterenol,nitroprusside,propranolol,edrophonium,atropine,tyramine;clonidine,yohimbine,metoclopramide,alpha-methyldopa
36 Clinical Efficacy of High-Sodium Diet and External Abdominal Compression in the Treatment of Orthostatic Intolerance in POTS Terminated NCT01771484 Phase 1
37 Effectiveness of Tongue Exercises and Laryngopharyngeal Reflux Therapy on Upper Airway Resistance Syndrome Withdrawn NCT00364481 Phase 1 omeprazole
38 Prognostic Impact of the Location of Mitral Valve Prolapse on the Long-term Results of Mitral Plasty Unknown status NCT03113552
39 Myocardial Characterization of Arrhythmogenic Mitral Valve Prolapse Unknown status NCT02879825
40 Exercise Capacity Evaluation in Patients With Non-rheumatic Mitral Valve Prolapse (MVP) Unknown status NCT02499419
41 Baroreceptor Function and Inflammation in Relation to Orthostatic Intolerance During Early Mobilization After Elective Hip Arthroplasty Unknown status NCT01866787
42 Treatment of Orthostatic Intolerance in Patients With Parkinson's Disease Using Midodrine Unknown status NCT02365012 Midodrine
43 Autonomic Cardiovascular Neuropathy in Recently Diagnosed DM2 Patients and in Pre-Diabetes Patients Unknown status NCT02931773
44 Cardiovascular Response to Orthostatic Fractional Gravity Unknown status NCT02508818
45 ECG Changes in Children and Adolescents With Type 1 Diabetes Unknown status NCT03260998
46 Assessment of Central Pain in the Peripartum Period Unknown status NCT01291680
47 Neural and Mechanical Baroreflex Sensitivity and Cerebral Blood Flow Completed NCT01498809 Midodrine
48 Post-Market Surveillance Registry for the NeoChord DS1000 Completed NCT01784055
49 Genetic Polymorphisms in Idiopathic Mitral Valve Prolapse :A French Prospective Study Using a Genome Wide Analysis Completed NCT00799565
50 Validation Study Comparing the Cardiac Output Pulmonary Arterial Catheter (Swan Ganz) to the FloWave™ 1000 Device Completed NCT00665301

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 Mitral Valve Prolapse 29
2 Orthostatic Intolerance 29 SLC6A2

Anatomical Context for Orthostatic Intolerance

MalaCards organs/tissues related to Orthostatic Intolerance:

40
Heart, Testes, Kidney, Brain, Spinal Cord, Lung, Thyroid

Publications for Orthostatic Intolerance

Articles related to Orthostatic Intolerance:

(show top 50) (show all 5362)
# Title Authors PMID Year
1
Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. 54 61 56 6
10684912 2000
2
Pharmacological properties of the naturally occurring Ala(457)Pro variant of the human norepinephrine transporter. 54 61 6
11875370 2002
3
The importance of orthostatic intolerance in the chronic fatigue syndrome. 61 56
10037115 1999
4
Postural tachycardia syndrome (POTS). 61 56
7746369 1995
5
Metabolic studies in mitral valve prolapse syndrome. A neuroendocrine--cardiovascular process. 61 56
7371133 1980
6
Where are the diseases of yesteryear? DaCosta's syndrome, soldiers heart, the effort syndrome, neurocirculatory asthenia--and the mitral valve prolapse syndrome. 61 56
770030 1976
7
Myxomatous Mitral-Valve Prolapse. 61 42
31747730 2019
8
Effects of volume loading and pressor agents in idiopathic orthostatic tachycardia. 56
9244228 1997
9
THE SYMPATHETIC NERVOUS SYSTEM AND THE "IRRITABLE HEART OF SOLDIERS.". 56
20769100 1918
10
Echocardiographic prediction of surgical reparability in degenerative mitral regurgitation due to leaflet prolapse: a review. 42
31483165 2019
11
Case 23-2019: A 52-Year-Old Man with Fever, Cough, and Hypoxemia. 42
31340098 2019
12
Slender, older women appear to be more susceptible to nontuberculous mycobacterial lung disease. 54 61
20189150 2010
13
Marfan syndrome and its disorder in periodontal tissues. 54 61
19199346 2009
14
Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan? 54 61
18242274 2008
15
AGT and ACE genes influence classic mitral valve prolapse predisposition in Marfan patients. 54 61
17379330 2008
16
Single nucleotide polymorphisms in the human norepinephrine transporter gene affect expression, trafficking, antidepressant interaction, and protein kinase C regulation. 54 61
15894713 2005
17
Orthostatic intolerance: potential pathophysiology and therapy. 54 61
15612527 2004
18
Phenotypical evidence for a gender difference in cardiac norepinephrine transporter function. 54 61
14726430 2004
19
Fibrillin and other matrix proteins in mitral valve prolapse syndrome. 54 61
14759433 2004
20
Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse. 54 61
12918850 2003
21
A mutation in the human norepinephrine transporter gene (SLC6A2) associated with orthostatic intolerance disrupts surface expression of mutant and wild-type transporters. 54 61
12805287 2003
22
Autonomic control after blockade of the norepinephrine transporter: a model of orthostatic intolerance. 54 61
12391111 2002
23
The polymorphisms of codon 727 and 52 of thyroid-stimulating hormone receptor gene are not associated with mitral valve prolapse syndrome in Taiwan Chinese. 54 61
12558129 2002
24
Genetic basis of clinical catecholamine disorders. 54 61
12438171 2002
25
Angiotensin II type 1 receptor gene adenine/cytosine1166 polymorphism is not associated with mitral valve prolapse syndrome in Taiwan Chinese. 54 61
11999641 2002
26
Selective norepinephrine reuptake inhibition as a human model of orthostatic intolerance. 54 61
11804991 2002
27
Biogenic amine transporters: regulation in flux. 54 61
10851182 2000
28
Angiotensin II type 1 receptor gene polymorphism and mitral valve prolapse syndrome. 54 61
10618569 2000
29
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. 54 61
9837823 1998
30
A new and rare form of Williams' syndrome. 54 61
8351994 1993
31
Behçet's Disease with Severe Autonomic Disorders Developing after Herpes Zoster. 61
32009095 2020
32
miR-137 and its target T-type CaV 3.1 channel modulate dedifferentiation and proliferation of cerebrovascular smooth muscle cells in simulated microgravity rats by regulating calcineurin/NFAT pathway. 61
32034930 2020
33
Orthostatic heart rate does not predict symptomatic burden in pediatric patients with chronic orthostatic intolerance. 61
31385108 2020
34
The Orthostatic Discriminant and Severity Scale (ODSS): an assessment of orthostatic intolerance. 61
30604164 2020
35
Postural Tachycardia Syndrome and Neurally Mediated Syncope. 61
31996624 2020
36
Transient Orthostatic Hypertension During Head-Up Tilt Test in Young Adults: A Phenotype of Blood Pressure Variability. 61
32028279 2020
37
Familial occurrence of mitral regurgitation in patients with mitral valve prolapse undergoing mitral valve surgery. 61
31475862 2020
38
Mitral valve prolapse, a familial condition worth screening for? 61
31830428 2020
39
Screening and evaluation of newly diagnosed cardiovascular diseases in first-trimester asymptomatic pregnant women in a tertiary antenatal care center in Turkey. 61
32011322 2020
40
Echocardiographic assessment of mitral regurgitation. 61
31446501 2020
41
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. 61
31353273 2020
42
Cardiac Autonomic Dysfunction in Multiple Sclerosis: A Systematic Review of Current Knowledge and Impact of Immunotherapies. 61
31991711 2020
43
Functional Gastrointestinal Disorders, Autonomic Nervous System Dysfunction, and Joint Hypermobility in Children: Are They Related? 61
31955876 2020
44
Screening for Orthostatic Intolerance in Symptomatic Children Presenting for Concussion Care. 61
31672071 2020
45
Management of orthostatic intolerance in children: the state of the art. 61
31912316 2020
46
Breathlessness and dysfunctional breathing in patients with postural orthostatic tachycardia syndrome (POTS): The impact of a physiotherapy intervention. 61
31743851 2020
47
Arterial Elasticity in Ehlers-Danlos Syndromes. 61
31947929 2020
48
Enhanced postoperative recovery: good from afar, but far from good? 61
31903577 2020
49
Postural Orthostatic Tachycardia Syndrome: Mechanisms and New Therapies. 61
31412221 2020
50
Sympathetic nervous activity and hemoglobin levels in de novo Parkinson's disease. 61
31983020 2020

Variations for Orthostatic Intolerance

ClinVar genetic disease variations for Orthostatic Intolerance:

6 (show top 50) (show all 73) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC6A2 NM_001172504.1(SLC6A2):c.1369G>C (p.Ala457Pro)SNV Pathogenic 14006 rs121918126 16:55731917-55731917 16:55698005-55698005
2 PACS1 NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)SNV Pathogenic 39581 rs398123009 11:65978677-65978677 11:66211206-66211206
3 FBN1 NM_000138.4(FBN1):c.6800A>T (p.Asn2267Ile)SNV Pathogenic 373981 rs1057518812 15:48722939-48722939 15:48430742-48430742
4 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523237 1:12019879-12028775
5 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523240 1:12019879-12028775
6 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523241 1:12019879-12028775
7 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser)SNV Pathogenic/Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
8 RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)SNV Likely pathogenic 374121 rs1057518914 X:20211665-20211665 X:20193547-20193547
9 COL5A1 NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val)SNV Likely pathogenic 523328 rs1554781700 9:137593133-137593133 9:134701287-134701287
10 FBN1 NM_000138.4(FBN1):c.7829A>G (p.Glu2610Gly)SNV Likely pathogenic 523335 rs1555393889 15:48707955-48707955 15:48415758-48415758
11 TRPS1 NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter)SNV Likely pathogenic 373946 rs1057518791 8:116616966-116616966 8:115604739-115604739
12 SLC6A2 NM_001172504.1(SLC6A2):c.1401C>T (p.Tyr467=)SNV Conflicting interpretations of pathogenicity 319806 rs138435822 16:55732392-55732392 16:55698480-55698480
13 SLC39A13 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)SNV Conflicting interpretations of pathogenicity 196579 rs140574574 11:47433573-47433573 11:47412022-47412022
14 SLC6A2 NM_001172504.1(SLC6A2):c.1465G>A (p.Ala489Thr)SNV Uncertain significance 319807 rs762006683 16:55732456-55732456 16:55698544-55698544
15 SLC6A2 NM_001172504.1(SLC6A2):c.1489+9G>ASNV Uncertain significance 319808 rs760893401 16:55732489-55732489 16:55698577-55698577
16 SLC6A2 NM_001172504.1(SLC6A2):c.1830+484C>TSNV Uncertain significance 319812 rs545369102 16:55736330-55736330 16:55702418-55702418
17 SLC6A2 NM_001172504.1(SLC6A2):c.1830+503C>TSNV Uncertain significance 319814 rs533872418 16:55736349-55736349 16:55702437-55702437
18 SLC6A2 NM_001172504.1(SLC6A2):c.1344C>T (p.Gly448=)SNV Uncertain significance 319804 rs148375394 16:55731892-55731892 16:55697980-55697980
19 SLC6A2 NM_001172504.1(SLC6A2):c.1830+499G>ASNV Uncertain significance 319813 rs886052134 16:55736345-55736345 16:55702433-55702433
20 SLC6A2 NM_001172504.1(SLC6A2):c.1830+538C>ASNV Uncertain significance 319815 rs187020270 16:55736384-55736384 16:55702472-55702472
21 SLC6A2 NM_001172504.1(SLC6A2):c.1830+813_1830+814insCAinsertion Uncertain significance 319823 rs201774381 16:55736659-55736660 16:55702747-55702748
22 SLC6A2 NM_001172504.1(SLC6A2):c.1830+826_1830+827dupduplication Uncertain significance 319822 rs72297759 16:55736659-55736660 16:55702747-55702748
23 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1076C>TSNV Uncertain significance 319829 rs541993124 16:55736922-55736922 16:55703010-55703010
24 SLC6A2 NM_001172504.1(SLC6A2):c.21C>A (p.Asn7Lys)SNV Uncertain significance 319791 rs11568323 16:55690627-55690627 16:55656715-55656715
25 SLC6A2 NM_001172504.1(SLC6A2):c.48G>C (p.Gly16=)SNV Uncertain significance 319792 rs551459843 16:55690654-55690654 16:55656742-55656742
26 SLC6A2 NM_001172504.1(SLC6A2):c.52G>C (p.Asp18His)SNV Uncertain significance 319793 rs886052131 16:55690658-55690658 16:55656746-55656746
27 SLC6A2 NM_001172504.1(SLC6A2):c.275-15C>TSNV Uncertain significance 319794 rs886052132 16:55703462-55703462 16:55669550-55669550
28 SLC6A2 NM_001172504.1(SLC6A2):c.866A>G (p.Asn289Ser)SNV Uncertain significance 319799 rs77951841 16:55725912-55725912 16:55692000-55692000
29 SLC6A2 NM_001172504.1(SLC6A2):c.1830+808_1830+809dupduplication Uncertain significance 319819 rs35571499 16:55736651-55736652 16:55702739-55702740
30 SLC6A2 NM_001172504.1(SLC6A2):c.1830+826_1830+827insCinsertion Uncertain significance 319824 rs886052137 16:55736672-55736673 16:55702760-55702761
31 SLC6A2 NM_001172504.1(SLC6A2):c.1830+828deldeletion Uncertain significance 319825 rs113163898 16:55736674-55736674 16:55702762-55702762
32 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1331_1830+1333deldeletion Uncertain significance 319834 rs540636734 16:55737176-55737178 16:55703264-55703266
33 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1429G>ASNV Uncertain significance 319838 rs886052141 16:55737275-55737275 16:55703363-55703363
34 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1587A>GSNV Uncertain significance 319840 rs886052142 16:55737433-55737433 16:55703521-55703521
35 SLC6A2 NM_001172504.1(SLC6A2):c.1831-1448G>TSNV Uncertain significance 319843 rs886052143 16:55737680-55737680 16:55703768-55703768
36 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1362C>ASNV Uncertain significance 319835 rs149687663 16:55737208-55737208 16:55703296-55703296
37 SLC6A2 NM_001172504.1(SLC6A2):c.856G>A (p.Gly286Arg)SNV Uncertain significance 319798 rs886052133 16:55725902-55725902 16:55691990-55691990
38 SLC6A2 NM_001172504.1(SLC6A2):c.1830+411G>ASNV Uncertain significance 319811 rs201308435 16:55736257-55736257 16:55702345-55702345
39 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1189G>ASNV Uncertain significance 319830 rs886052138 16:55737035-55737035 16:55703123-55703123
40 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1410A>CSNV Uncertain significance 319836 rs41280888 16:55737256-55737256 16:55703344-55703344
41 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1435C>ASNV Uncertain significance 319839 rs567004221 16:55737281-55737281 16:55703369-55703369
42 SLC6A2 NM_001172504.1(SLC6A2):c.1831-1608G>ASNV Uncertain significance 319841 rs145197048 16:55737520-55737520 16:55703608-55703608
43 SLC6A2 NM_001172504.1(SLC6A2):c.-36C>GSNV Uncertain significance 319790 rs201444263 16:55690571-55690571 16:55656659-55656659
44 SLC6A2 NM_001172504.1(SLC6A2):c.646C>T (p.Arg216Cys)SNV Uncertain significance 319796 rs767399475 16:55719056-55719056 16:55685144-55685144
45 SLC6A2 NM_001172504.1(SLC6A2):c.1830+718C>TSNV Uncertain significance 319817 rs192171814 16:55736564-55736564 16:55702652-55702652
46 SLC6A2 NM_001172504.1(SLC6A2):c.1830+810T>CSNV Uncertain significance 319820 rs2397773 16:55736656-55736656 16:55702744-55702744
47 SLC6A2 NM_001172504.1(SLC6A2):c.1801G>C (p.Val601Leu)SNV Uncertain significance 319810 rs201793493 16:55735817-55735817 16:55701905-55701905
48 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1287G>ASNV Uncertain significance 319833 rs886052139 16:55737133-55737133 16:55703221-55703221
49 NSDHL NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)SNV Uncertain significance 373975 rs142351862 X:152037592-152037592 X:152869048-152869048
50 MAP2K2 NM_030662.3(MAP2K2):c.514A>G (p.Lys172Glu)SNV Uncertain significance 523536 rs1413580671 19:4102388-4102388 19:4102390-4102390

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

73
# Symbol AA change Variation ID SNP ID
1 SLC6A2 p.Ala457Pro VAR_010022 rs121918126

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.96 NOS3 AGTR1 ADRA2B ADRA2A
2 11.26 NOX4 NOS3 EDN1 AGTR1
3 10.16 SLC6A2 ADRA2B ADRA2A

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 integral component of plasma membrane GO:0005887 9.17 TRPC1 SLC7A1 SLC6A2 AGTR1 ADRA2B ADRA2A

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.62 PLOD1 PDLIM1 NOX4 EDN1
2 regulation of blood pressure GO:0008217 9.61 POMC NOS3 EDN1
3 cellular response to transforming growth factor beta stimulus GO:0071560 9.58 NOX4 FBN1 EDN1
4 regulation of smooth muscle contraction GO:0006940 9.54 ADRA2B ADRA2A
5 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.52 ADRA2A ADAM8
6 superoxide anion generation GO:0042554 9.51 NOX4 EDN1
7 negative regulation of calcium ion transport GO:0051926 9.49 NOS3 ADRA2A
8 adrenergic receptor signaling pathway GO:0071875 9.48 ADRA2B ADRA2A
9 negative regulation of norepinephrine secretion GO:0010700 9.46 ADRA2B ADRA2A
10 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.37 NOS3 EDN1
11 receptor transactivation GO:0035624 9.26 ADRA2B ADRA2A
12 positive regulation of MAP kinase activity GO:0043406 9.26 NOX4 EDN1 ADRA2A ADAM8
13 negative regulation of epinephrine secretion GO:0032811 9.16 ADRA2B ADRA2A
14 regulation of vasoconstriction GO:0019229 8.92 EDN1 AGTR1 ADRA2B ADRA2A

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.43 POMC FBN1 EDN1
2 adrenergic receptor activity GO:0004935 9.32 ADRA2B ADRA2A
3 extracellular matrix constituent conferring elasticity GO:0030023 9.16 FBN1 ELN
4 epinephrine binding GO:0051379 8.96 ADRA2B ADRA2A
5 alpha2-adrenergic receptor activity GO:0004938 8.62 ADRA2B ADRA2A

Sources for Orthostatic Intolerance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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