OI
MCID: ORT004
MIFTS: 62

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
SNOMED-CT 67 191962000 8074002
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 polycystic kidney disease 1 with or without polycystic liver disease, and has symptoms including edema, chest pain and angina pectoris. An important gene associated with Orthostatic Intolerance is SLC6A2 (Solute Carrier Family 6 Member 2), and among its related pathways/superpathways are Synaptic vesicle cycle and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, 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 508)
# Related Disease Score Top Affiliating Genes
1 postural orthostatic tachycardia syndrome 34.6 SLC6A2 REN FBN1
2 polycystic kidney disease 1 with or without polycystic liver disease 33.2 REN NOS3 FBN1
3 mitral valve insufficiency 31.9 REN PDLIM1 MIR423 FBN1 ELN
4 aortic valve insufficiency 31.9 REN FBN1 ELN
5 tricuspid valve prolapse 31.8 PDLIM1 FBN1
6 lipoprotein quantitative trait locus 31.7 REN NOS3 MIR29B1 ELN EDN1 AGTR1
7 pulmonary hypertension 31.6 TRPC1 REN NOX4 NOS3 EDN1 AGTR1
8 arteries, anomalies of 31.6 REN NOS3 MIR423 MIR29B1 EDN1 AGTR1
9 connective tissue disease 31.6 PLOD1 MIR423 MIR29B1 FBN1 ELN EDN1
10 atrial fibrillation 31.5 REN NOS3 AGTR1 ADRB1
11 hypermobile ehlers-danlos syndrome 31.4 PLOD1 FBN1
12 patent ductus arteriosus 1 31.4 REN FBN1 ELN EDN1
13 stroke, ischemic 31.4 REN NOS3 FBN1 AGTR1
14 arteriosclerosis 31.4 NOS3 FBN1 ELN EDN1
15 impotence 31.3 POMC NOS3 EDN1
16 pulmonary edema 31.3 REN NOS3 EDN1 AGTR1
17 angina pectoris 31.3 NOS3 EDN1 ADRB1
18 intraocular pressure quantitative trait locus 31.3 FBN1 ELN EDN1 ADRB1
19 heart valve disease 31.2 REN PDLIM1 MIR423 MIR29B1 FBN1 ELN
20 coronary artery vasospasm 31.2 NOS3 EDN1 ADRB1
21 dilated cardiomyopathy 31.2 REN NOS3 ELN EDN1 AGTR1 ADRB1
22 congestive heart failure 31.2 REN NOS3 EDN1 AGTR1 ADRB1
23 body mass index quantitative trait locus 11 31.2 SLC6A2 REN POMC NOS3 MIR423 EDN1
24 myocardial infarction 31.1 REN NOS3 MIR423 MIR29B1 ELN EDN1
25 nonarteritic anterior ischemic optic neuropathy 31.1 NOS3 EDN1 AGTR1
26 brittle bone disorder 31.1 PLOD1 FBN1 ELN
27 scleroderma, familial progressive 31.1 FBN1 EDN1
28 sleep disorder 31.0 REN POMC EDN1
29 portal hypertension 31.0 NOS3 ELN EDN1 AGTR1
30 premenstrual tension 31.0 REN POMC
31 mitral valve disease 31.0 REN NOS3 MIR423 FBN1 ELN AGTR1
32 collagen disease 31.0 PLOD1 FBN1 ELN
33 retinal vascular disease 31.0 REN NOS3 EDN1
34 migraine with or without aura 1 31.0 REN POMC NOS3 EDN1
35 autosomal dominant polycystic kidney disease 31.0 REN NOS3 EDN1 AGTR1
36 polycystic kidney disease 31.0 REN NOS3 EDN1 AGTR1
37 acute myocardial infarction 31.0 REN MIR423 EDN1 AGTR1 ADRB1
38 heart disease 31.0 REN PDLIM1 NOS3 MIR423 FBN1 ELN
39 atrial heart septal defect 31.0 FBN1 ELN EDN1
40 renovascular hypertension 31.0 REN NOS3 EDN1 AGTR1
41 fibromuscular dysplasia 30.9 REN AGTR1
42 patent foramen ovale 30.9 REN FBN1 ELN EDN1
43 aortic valve disease 1 30.9 REN NOS3 MIR29B1 FBN1 ELN EDN1
44 coronary heart disease 1 30.9 NOS3 EDN1 AGTR1
45 aortic valve disease 2 30.8 REN PDLIM1 MIR423 MIR29B1 FBN1 ELN
46 tetralogy of fallot 30.8 REN FBN1 ELN EDN1
47 hypertension, essential 30.8 TRPC1 SLC7A1 SLC6A2 REN POMC NOX4
48 open-angle glaucoma 30.7 NOS3 ELN EDN1
49 marfan syndrome 30.4 FBN1 ELN AGTR1
50 mitral valve prolapse 2 13.2

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:


edema, chest pain, angina pectoris

MGI Mouse Phenotypes related to Orthostatic Intolerance:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 ADAM8 ADRB1 AGTR1 EDN1 FBN1 NOS3
2 muscle MP:0005369 9.5 ADRB1 EDN1 FBN1 NOS3 NOX4 PLOD1
3 renal/urinary system MP:0005367 9.17 AGTR1 EDN1 FBN1 NOS3 NOX4 POMC

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 173)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Droxidopa Approved, Investigational Phase 4 23651-95-8 443940
7
Norepinephrine Approved Phase 4 51-41-2 439260
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
9
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
10
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
11 Gastrointestinal Agents Phase 4
12 Methylprednisolone Acetate Phase 4
13 Neuroprotective Agents Phase 4
14 Protective Agents Phase 4
15 Antiparkinson Agents Phase 4
16 Liver Extracts Phase 4
17 Hormones Phase 4
18 glucocorticoids Phase 4
19 Antineoplastic Agents, Hormonal Phase 4
20 Hormone Antagonists Phase 4
21 Antiemetics Phase 4
22 Anti-Inflammatory Agents Phase 4
23
Midodrine Approved Phase 3 133163-28-7, 42794-76-3 4195
24
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
25
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
26
Levodopa Approved Phase 3 59-92-7 6047
27
Methyldopa Approved Phase 3 555-30-6 38853
28
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
29
Carbidopa Approved Phase 3 28860-95-9 34359
30 NG-Nitroarginine Methyl Ester Phase 2, Phase 3
31 Adrenergic alpha-Agonists Phase 3
32 Adrenergic Agonists Phase 3
33 Dopamine Agents Phase 3
34 Atomoxetine Hydrochloride Phase 3
35 Dopamine Antagonists Phase 3
36 alpha-Methyltyrosine Phase 3
37 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
38 Pharmaceutical Solutions Phase 3
39 Plasma Substitutes Phase 3
40
Arginine Investigational, Nutraceutical Phase 2, Phase 3 74-79-3 6322
41
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
42
Progesterone Approved, Vet_approved Phase 2 57-83-0 5994
43
Ganirelix Approved Phase 2 123246-29-7, 124904-93-4 25081094
44
Polyestradiol phosphate Approved Phase 2 28014-46-2
45
Acetazolamide Approved, Vet_approved Phase 1, Phase 2 59-66-5 1986
46
Entacapone Approved, Investigational Phase 1, Phase 2 130929-57-6 5281081
47
Octreotide Approved, Investigational Phase 1, Phase 2 83150-76-9 383414 6400441
48
Isosorbide Dinitrate Approved, Investigational Phase 1, Phase 2 87-33-2 6883
49
Clonidine Approved Phase 1, Phase 2 4205-90-7 2803
50
Modafinil Approved, Investigational Phase 1, Phase 2 68693-11-8 4236

Interventional clinical trials:

(show top 50) (show all 130)
# 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 Safety and Efficacy of Intravenous Norepinephrine for Orthostatic Hypotension Completed NCT01285908 Phase 1, Phase 2 Intravenous Norepinephrine Infusion
21 Non-Pharmacologic Therapy for Neurocardiogenic Syncope Completed NCT00096902 Phase 2
22 Propranolol for Syncope With Sympathoadrenal Imbalance in Children Completed NCT00093860 Phase 2 Propranolol
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 Active, not 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 A Novel Adjustable Neochordae Technique in Mitral Valve Repair Not yet recruiting NCT04299334 Phase 1
37 Clinical Efficacy of High-Sodium Diet and External Abdominal Compression in the Treatment of Orthostatic Intolerance in POTS Terminated NCT01771484 Phase 1
38 Effectiveness of Tongue Exercises and Laryngopharyngeal Reflux Therapy on Upper Airway Resistance Syndrome Withdrawn NCT00364481 Phase 1 omeprazole
39 Prognostic Impact of the Location of Mitral Valve Prolapse on the Long-term Results of Mitral Plasty Unknown status NCT03113552
40 Myocardial Characterization of Arrhythmogenic Mitral Valve Prolapse Unknown status NCT02879825
41 Exercise Capacity Evaluation in Patients With Non-rheumatic Mitral Valve Prolapse (MVP) Unknown status NCT02499419
42 Hemodynamic Monitorization Using Pulse Counter Vigileo-Flotrac Cardiac Output System in Transapical Off-pump Minimally Invasive Mitral Valve Repair Unknown status NCT03506217
43 Baroreceptor Function and Inflammation in Relation to Orthostatic Intolerance During Early Mobilization After Elective Hip Arthroplasty Unknown status NCT01866787
44 Treatment of Orthostatic Intolerance in Patients With Parkinson's Disease Using Midodrine Unknown status NCT02365012 Midodrine
45 Cardiovascular Response to Orthostatic Fractional Gravity Unknown status NCT02508818
46 Autonomic Cardiovascular Neuropathy in Recently Diagnosed DM2 Patients and in Pre-Diabetes Patients Unknown status NCT02931773
47 ECG Changes in Children and Adolescents With Type 1 Diabetes Unknown status NCT03260998
48 VISUALIZATION OF THE MICROCIRCULATION IN WEIGHTLESSNESS Unknown status NCT03561545
49 Assessment of Central Pain in the Peripartum Period Unknown status NCT01291680
50 Neural and Mechanical Baroreflex Sensitivity and Cerebral Blood Flow Completed NCT01498809 Midodrine

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, Brain, Lung, Kidney, Spinal Cord, Endothelial

Publications for Orthostatic Intolerance

Articles related to Orthostatic Intolerance:

(show top 50) (show all 5429)
# Title Authors PMID Year
1
Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. 54 6 56 61
10684912 2000
2
Pharmacological properties of the naturally occurring Ala(457)Pro variant of the human norepinephrine transporter. 6 61 54
11875370 2002
3
The importance of orthostatic intolerance in the chronic fatigue syndrome. 56 61
10037115 1999
4
Postural tachycardia syndrome (POTS). 61 56
7746369 1995
5
Metabolic studies in mitral valve prolapse syndrome. A neuroendocrine--cardiovascular process. 56 61
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. 56 61
770030 1976
7
Monocyte to high-density lipoprotein ratio: a prognostic factor for mitral valve prolapse? 42 61
32115969 2020
8
How to create patient-specific loops for correcting mitral valve prolapse through a minimally invasive approach. 42 61
31990155 2019
9
Effects of volume loading and pressor agents in idiopathic orthostatic tachycardia. 56
9244228 1997
10
THE SYMPATHETIC NERVOUS SYSTEM AND THE "IRRITABLE HEART OF SOLDIERS.". 56
20769100 1918
11
Recurrent mitral regurgitation after mitral valve repair for bileaflet lesions in the modern era. 42
31775821 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. 61 54
19199346 2009
14
Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan? 61 54
18242274 2008
15
AGT and ACE genes influence classic mitral valve prolapse predisposition in Marfan patients. 61 54
17379330 2008
16
Single nucleotide polymorphisms in the human norepinephrine transporter gene affect expression, trafficking, antidepressant interaction, and protein kinase C regulation. 61 54
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. 61 54
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. 61 54
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. 61 54
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. 61 54
8351994 1993
31
Desert hedgehog-primary cilia cross talk shapes mitral valve tissue by organizing smooth muscle actin. 61
32151560 2020
32
Pediatric-Onset Postural Orthostatic Tachycardia Syndrome in a Single Tertiary Care Center. 61
32314650 2020
33
Prevalence of mitral annular disjunction in patients with mitral valve prolapse and severe regurgitation. 61
32221771 2020
34
Vascular Complications in the Era of Transcatheter Treatment of Adult Structural Heart Disease: A Single-Center Early Experience. 61
32552506 2020
35
Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes. 61
32534992 2020
36
Arrhythmia insensitive rapid cardiac T1 mapping: comparison to modified look locker inversion recovery T1 mapping in mitral valve prolapse patients. 61
32514823 2020
37
Sneddon syndrome: under diagnosed disease, complex clinical manifestations and challenging diagnosis. A case-based review. 61
32533291 2020
38
Prevalence and factors related to orthostatic syndromes in recently diagnosed, drug-naïve patients with Parkinson disease. 61
31848771 2020
39
Impact of depressive symptoms on self-perceived severity of autonomic dysfunction in multiple system atrophy: relevance for patient-reported outcomes in clinical trials. 61
32246226 2020
40
A Meta-analysis and Systematic Review of Valvular Heart Disease in Systemic Lupus Erythematosus and Its Association With Antiphospholipid Antibodies. 61
32558678 2020
41
Cerebral Blood Flow Is Reduced in Severe Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients During Mild Orthostatic Stress Testing: An Exploratory Study at 20 Degrees of Head-Up Tilt Testing. 61
32545797 2020
42
Pathophysiology and Individualized Management of Vasovagal Syncope and Postural Tachycardia Syndrome in Children and Adolescents: An Update. 61
32367250 2020
43
Sympathetic nervous activity and hemoglobin levels in de novo Parkinson's disease. 61
31983020 2020
44
Children with Functional Nausea-Comorbidities outside the Gastrointestinal Tract. 61
32532651 2020
45
Attention and executive function are impaired during active standing in postural tachycardia syndrome. 61
32526639 2020
46
Clinically accessible tools for documenting the impact of orthostatic intolerance on symptoms and function in ME/CFS. 61
32568144 2020
47
Dynamic Countermeasure Fabrics for Post-Spaceflight Orthostatic Intolerance. 61
32408937 2020
48
Gastrointestinal motility evaluation in children with orthostatic intolerance: Mayo Clinic experience. 61
32483845 2020
49
Long-term outcomes of ablation for ventricular arrhythmias in mitral valve prolapse. 61
32506159 2020
50
A rare association of divided left atrium with mitral valve prolapse. 61
32557801 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 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523237 1:12019879-12028775
2 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523240 1:12019879-12028775
3 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523241 1:12019879-12028775
4 SLC6A2 NM_001172504.1(SLC6A2):c.1369G>C (p.Ala457Pro)SNV Pathogenic 14006 rs121918126 16:55731917-55731917 16:55698005-55698005
5 PACS1 NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)SNV Pathogenic 39581 rs398123009 11:65978677-65978677 11:66211206-66211206
6 FBN1 NM_000138.4(FBN1):c.6800A>T (p.Asn2267Ile)SNV Pathogenic 373981 rs1057518812 15:48722939-48722939 15:48430742-48430742
7 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser)SNV Pathogenic/Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
8 COL5A1 NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val)SNV Likely pathogenic 523328 rs1554781700 9:137593133-137593133 9:134701287-134701287
9 FBN1 NM_000138.4(FBN1):c.7829A>G (p.Glu2610Gly)SNV Likely pathogenic 523335 rs1555393889 15:48707955-48707955 15:48415758-48415758
10 TRPS1 NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter)SNV Likely pathogenic 373946 rs1057518791 8:116616966-116616966 8:115604739-115604739
11 RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)SNV Likely pathogenic 374121 rs1057518914 X:20211665-20211665 X:20193547-20193547
12 SLC39A13 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)SNV Conflicting interpretations of pathogenicity 196579 rs140574574 11:47433573-47433573 11:47412022-47412022
13 BMPR2 NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln)SNV Conflicting interpretations of pathogenicity 333652 rs148099152 2:203424500-203424500 2:202559777-202559777
14 SLC6A2 NM_001172504.1(SLC6A2):c.1401C>T (p.Tyr467=)SNV Conflicting interpretations of pathogenicity 319806 rs138435822 16:55732392-55732392 16:55698480-55698480
15 SLC6A2 NM_001172504.1(SLC6A2):c.1465G>A (p.Ala489Thr)SNV Uncertain significance 319807 rs762006683 16:55732456-55732456 16:55698544-55698544
16 SLC6A2 NM_001172504.1(SLC6A2):c.1489+9G>ASNV Uncertain significance 319808 rs760893401 16:55732489-55732489 16:55698577-55698577
17 SLC6A2 NM_001172504.1(SLC6A2):c.1830+484C>TSNV Uncertain significance 319812 rs545369102 16:55736330-55736330 16:55702418-55702418
18 SLC6A2 NM_001172504.1(SLC6A2):c.1830+503C>TSNV Uncertain significance 319814 rs533872418 16:55736349-55736349 16:55702437-55702437
19 SLC6A2 NM_001172504.1(SLC6A2):c.1830+718C>TSNV Uncertain significance 319817 rs192171814 16:55736564-55736564 16:55702652-55702652
20 SLC6A2 NM_001172504.1(SLC6A2):c.1830+810T>CSNV Uncertain significance 319820 rs2397773 16:55736656-55736656 16:55702744-55702744
21 SLC6A2 NM_001172504.1(SLC6A2):c.1830+808_1830+809dupduplication Uncertain significance 319819 rs35571499 16:55736651-55736652 16:55702739-55702740
22 SLC6A2 NM_001172504.1(SLC6A2):c.1830+826_1830+827insCinsertion Uncertain significance 319824 rs886052137 16:55736672-55736673 16:55702760-55702761
23 SLC6A2 NM_001172504.1(SLC6A2):c.1830+828deldeletion Uncertain significance 319825 rs113163898 16:55736674-55736674 16:55702762-55702762
24 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1331_1830+1333deldeletion Uncertain significance 319834 rs540636734 16:55737176-55737178 16:55703264-55703266
25 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1429G>ASNV Uncertain significance 319838 rs886052141 16:55737275-55737275 16:55703363-55703363
26 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1587A>GSNV Uncertain significance 319840 rs886052142 16:55737433-55737433 16:55703521-55703521
27 MAP2K2 NM_030662.3(MAP2K2):c.514A>G (p.Lys172Glu)SNV Uncertain significance 523536 rs1413580671 19:4102388-4102388 19:4102390-4102390
28 SLC6A2 NM_001172504.1(SLC6A2):c.21C>A (p.Asn7Lys)SNV Uncertain significance 319791 rs11568323 16:55690627-55690627 16:55656715-55656715
29 SLC6A2 NM_001172504.1(SLC6A2):c.48G>C (p.Gly16=)SNV Uncertain significance 319792 rs551459843 16:55690654-55690654 16:55656742-55656742
30 SLC6A2 NM_001172504.1(SLC6A2):c.52G>C (p.Asp18His)SNV Uncertain significance 319793 rs886052131 16:55690658-55690658 16:55656746-55656746
31 SLC6A2 NM_001172504.1(SLC6A2):c.275-15C>TSNV Uncertain significance 319794 rs886052132 16:55703462-55703462 16:55669550-55669550
32 SLC6A2 NM_001172504.1(SLC6A2):c.866A>G (p.Asn289Ser)SNV Uncertain significance 319799 rs77951841 16:55725912-55725912 16:55692000-55692000
33 NSDHL NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)SNV Uncertain significance 373975 rs142351862 X:152037592-152037592 X:152869048-152869048
34 SLC6A2 NM_001172504.1(SLC6A2):c.1831-1448G>TSNV Uncertain significance 319843 rs886052143 16:55737680-55737680 16:55703768-55703768
35 SLC6A2 NM_001172504.1(SLC6A2):c.856G>A (p.Gly286Arg)SNV Uncertain significance 319798 rs886052133 16:55725902-55725902 16:55691990-55691990
36 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1287G>ASNV Uncertain significance 319833 rs886052139 16:55737133-55737133 16:55703221-55703221
37 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1362C>ASNV Uncertain significance 319835 rs149687663 16:55737208-55737208 16:55703296-55703296
38 SLC6A2 NM_001172504.1(SLC6A2):c.1344C>T (p.Gly448=)SNV Uncertain significance 319804 rs148375394 16:55731892-55731892 16:55697980-55697980
39 SLC6A2 NM_001172504.1(SLC6A2):c.1830+499G>ASNV Uncertain significance 319813 rs886052134 16:55736345-55736345 16:55702433-55702433
40 SLC6A2 NM_001172504.1(SLC6A2):c.1830+538C>ASNV Uncertain significance 319815 rs187020270 16:55736384-55736384 16:55702472-55702472
41 SLC6A2 NM_001172504.1(SLC6A2):c.1830+813_1830+814insCAinsertion Uncertain significance 319823 rs201774381 16:55736659-55736660 16:55702747-55702748
42 SLC6A2 NM_001172504.1(SLC6A2):c.1830+826_1830+827dupduplication Uncertain significance 319822 rs72297759 16:55736659-55736660 16:55702747-55702748
43 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1076C>TSNV Uncertain significance 319829 rs541993124 16:55736922-55736922 16:55703010-55703010
44 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1189G>ASNV Uncertain significance 319830 rs886052138 16:55737035-55737035 16:55703123-55703123
45 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1410A>CSNV Uncertain significance 319836 rs41280888 16:55737256-55737256 16:55703344-55703344
46 SLC6A2 NM_001172504.1(SLC6A2):c.1830+1435C>ASNV Uncertain significance 319839 rs567004221 16:55737281-55737281 16:55703369-55703369
47 SLC6A2 NM_001172504.1(SLC6A2):c.1831-1608G>ASNV Uncertain significance 319841 rs145197048 16:55737520-55737520 16:55703608-55703608
48 SLC6A2 NM_001172504.1(SLC6A2):c.-36C>GSNV Uncertain significance 319790 rs201444263 16:55690571-55690571 16:55656659-55656659
49 SLC6A2 NM_001172504.1(SLC6A2):c.646C>T (p.Arg216Cys)SNV Uncertain significance 319796 rs767399475 16:55719056-55719056 16:55685144-55685144
50 SLC6A2 NM_001172504.1(SLC6A2):c.1801G>C (p.Val601Leu)SNV Uncertain significance 319810 rs201793493 16:55735817-55735817 16:55701905-55701905

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 KEGG:

36
# Name Kegg Source Accession
1 Synaptic vesicle cycle hsa04721

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.34 REN NOS3 AGTR1
2 11.26 NOX4 NOS3 EDN1 AGTR1
3 10.86 NOS3 EDN1 ADRB1
4 10.76 REN EDN1 AGTR1 ADRB1

GO Terms for Orthostatic Intolerance

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAP kinase activity GO:0043406 9.54 NOX4 EDN1 ADAM8
2 cellular response to transforming growth factor beta stimulus GO:0071560 9.5 NOX4 FBN1 EDN1
3 response to hypoxia GO:0001666 9.46 PLOD1 PDLIM1 NOX4 EDN1
4 stress fiber assembly GO:0043149 9.43 PDLIM1 ELN
5 superoxide anion generation GO:0042554 9.4 NOX4 EDN1
6 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.26 NOS3 EDN1
7 renin-angiotensin regulation of aldosterone production GO:0002018 8.96 REN AGTR1
8 regulation of blood pressure GO:0008217 8.92 REN POMC NOS3 EDN1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 POMC FBN1 EDN1
2 extracellular matrix constituent conferring elasticity GO:0030023 8.62 FBN1 ELN

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
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34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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48 NCI
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50 NDF-RT
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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