MCID: ORT004
MIFTS: 63

Orthostatic Intolerance

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

Aliases & Classifications for Orthostatic Intolerance

MalaCards integrated aliases for Orthostatic Intolerance:

Name: Orthostatic Intolerance 54 24 71 29 13
Mitral Valve Prolapse 12 29 52 41 42 14
Neurocirculatory Asthenia 12 24 42 14 69
Familial Orthostatic Tachycardia Due to Norepinephrine Transporter Deficiency 56
Cardiovascular Malfunction Arising from Mental Factors 12
Postural Tachycardia Syndrome Due to Net Deficiency 56
Orthostatic Intolerance Due to Net Deficiency 56
Mitral Valve Prolapse, Familial, X-Linked 69
Myxomatous Mitral Valve Prolapse 12
Systolic Click-Murmur Syndrome 12
Mitral Valve Prolapse Syndrome 69
Cardiovascular Neurosis 12
Mitral Leaflet Syndrome 12
Da Costa's Syndrome 12
Krishaber's Disease 12
Floppy Mitral Valve 12
Barlow's Syndrome 12
Oi 71

Characteristics:

Orphanet epidemiological data:

56
orthostatic intolerance due to net deficiency
Inheritance: Autosomal dominant;

HPO:

32
orthostatic intolerance:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Orthostatic Intolerance

MedlinePlus : 41 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 2 and mitral valve prolapse, myxomatous 1, and has symptoms including orthostatic tachycardia, angina pectoris 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 NFAT and Cardiac Hypertrophy. 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.

Wikipedia : 72 Orthostatic intolerance (OI) is the development of symptoms when standing upright which are relieved... 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 94)
id Related Disease Score Top Affiliating Genes
1 mitral valve prolapse 2 12.6
2 mitral valve prolapse, myxomatous 1 12.6
3 mitral valve prolapse, myxomatous 3 12.4
4 chronic orthostatic intolerance 12.3
5 hypogonadism mitral valve prolapse mental retardation 12.1
6 mitral valve prolapse, familial, autosomal dominant 12.1
7 mitral valve prolapse, familial, x-linked 12.1
8 hypogonadism-mitral valve prolapse-intellectual disability syndrome 12.1
9 osteogenesis imperfecta 11.9
10 osteogenesis imperfecta, type iv 11.7
11 osteogenesis imperfecta, type v 11.7
12 osteogenesis imperfecta, type viii 11.6
13 osteogenesis imperfecta, type iii 11.6
14 osteogenesis imperfecta, type xv 11.6
15 osteogenesis imperfecta, type xiii 11.6
16 osteogenesis imperfecta, type xiv 11.6
17 osteogenesis imperfecta, type i 11.6
18 osteogenesis imperfecta, type vii 11.6
19 osteogenesis imperfecta, type xi 11.5
20 osteogenesis imperfecta, type ii 11.5
21 osteogenesis imperfecta, type x 11.5
22 osteogenesis imperfecta, type vi 11.5
23 postural orthostatic tachycardia syndrome 11.5
24 osteogenesis imperfecta, type xii 11.4
25 perinatally lethal osteogenesis imperfecta 11.3
26 dentinogenesis imperfecta 11.1
27 microphthalmia, syndromic 2 11.1
28 progressive black carbon hyperpigmentation of infancy 10.8 EDN1 NOS3
29 indeterminate leprosy 10.6 EDN1 NOS3
30 traumatic glaucoma 10.6 EDN1 NOS3 POMC
31 mixed astrocytoma-ependymoma 10.5 ADRB1 ADRB2
32 bulbomembranous urethral cancer 10.5 ECE1 EDN1
33 esophageal leukoplakia 10.5 EDN1 NOS2 NOS3
34 cutis laxa 10.5 FBN1 POMC
35 viral hepatitis 10.4 EDN1 NOS2 NOS3
36 lethal congenital contractural syndrome 2 10.4 EDN1 NOS3
37 psychologic vaginismus 10.4 NOS2 NOS3
38 syncope 10.4
39 skull base neoplasm 10.3 EDN1 FBN1 NOS3
40 clitoris cancer 10.3 AGTR1 NOS3
41 lymphadenitis 10.3 AGTR1 EDN1 NOS3
42 joint disorders 10.3 AGTR1 EDN1 NOS3
43 bernard-soulier syndrome, type a2 10.3 AGTR1 EDN1 NOS3
44 cerebritis 10.3
45 chronic fatigue syndrome 10.2
46 preeclampsia/eclampsia 1 10.2 AGTR1 EDN1 NOS3
47 bubonic plague 10.2 AGTR1 EDN1 NOS3
48 antiphospholipid syndrome 10.2 ADRB2 EDN1 MGAM
49 mental retardation cataracts calcified pinnae myopathy 10.2 ADRB1 ADRB2 AGTR1
50 lubani-al saleh-teebi syndrome 10.1 ECE1 EDN1 NOS2 NOS3

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


Anxiety Disorder 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:

32
id Description HPO Frequency HPO Source Accession
1 orthostatic tachycardia 32 HP:0012173

UMLS symptoms related to Orthostatic Intolerance:


angina pectoris, chest pain, edema

MGI Mouse Phenotypes related to Orthostatic Intolerance:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 AGTR1 DBH ECE1 EDN1 FBN1 NOS2
2 homeostasis/metabolism MP:0005376 10.33 ACHE ADRA2A ADRA2B ADRA2C ADRB1 ADRB2
3 behavior/neurological MP:0005386 10.29 ACHE ADRA2A ADRA2B ADRA2C ADRB2 AGTR1
4 growth/size/body region MP:0005378 10.27 ACHE ADRA2B ADRB1 ADRB2 AGTR1 DBH
5 mortality/aging MP:0010768 10.21 ACHE ADRA2A ADRA2B ADRA2C ADRB1 AGTR1
6 adipose tissue MP:0005375 10.18 ACHE ADRB1 ADRB2 AGTR1 DBH FBN1
7 endocrine/exocrine gland MP:0005379 10.13 ADRB1 ADRB2 DBH ECE1 EDN1 FBN1
8 hematopoietic system MP:0005397 10.13 ACHE ADRA2B ADRB2 AGTR1 ECE1 FBN1
9 nervous system MP:0003631 10.07 NOS3 POMC SLC6A2 ACHE ADRA2A ADRA2C
10 muscle MP:0005369 9.97 FBN1 NOS2 NOS3 ACHE ADRA2B ADRB1
11 renal/urinary system MP:0005367 9.7 EDN1 FBN1 NOS2 NOS3 POMC ADRA2B
12 skeleton MP:0005390 9.56 ADRB1 ADRB2 DBH ECE1 EDN1 FBN1
13 vision/eye MP:0005391 9.1 NOS2 NOS3 ACHE ADRB2 DBH ECE1

Drugs & Therapeutics for Orthostatic Intolerance

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

(show top 50) (show all 278)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midodrine Approved Phase 4,Phase 3,Phase 2,Phase 1 133163-28-7, 42794-76-3 4195
2
Metoprolol Approved, Investigational Phase 4,Phase 2 37350-58-6, 51384-51-1 4171
3
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 525-66-6 4946
4
Fludrocortisone Approved Phase 4,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 1,Phase 2,Early Phase 1
14 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 1,Phase 2,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 1,Phase 2,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 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1
28
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
29
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
30
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
31
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
32
Levodopa Approved Phase 3,Phase 1,Early Phase 1 59-92-7 6047
33
Carbidopa Approved Phase 2, Phase 3, Phase 1 28860-95-9 34359 38101
34
Methyldopa Approved Phase 3,Phase 1 555-30-6 38853
35
Metoclopramide Approved, Investigational Phase 3,Phase 1 364-62-5 4168
36 Antiemetics Phase 2, Phase 3, Phase 1
37 Antineoplastic Agents, Hormonal Phase 2, Phase 3,Phase 1
38 Gastrointestinal Agents Phase 2, Phase 3, Phase 1, Early Phase 1
39 glucocorticoids Phase 2, Phase 3
40 Hormone Antagonists Phase 2, Phase 3
41 Hormones Phase 2, Phase 3
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
43 Methylprednisolone acetate Phase 2, Phase 3
44 Methylprednisolone Hemisuccinate Phase 2, Phase 3
45 Neuroprotective Agents Phase 2, Phase 3,Phase 1
46 Prednisolone acetate Phase 2, Phase 3
47 Prednisolone hemisuccinate Phase 2, Phase 3
48 Prednisolone phosphate Phase 2, Phase 3
49 Protective Agents Phase 2, Phase 3, Phase 1, Early Phase 1
50 Dopamine Agents Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 175)

id 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 A Study for Patients With Neurogenic Orthostatic Hypotension Completed NCT00046475 Phase 4 Midodrine Hydrochloride
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 Clinical Efficacy of Midodrine in Symptomatic Orthostatic Hypotension Completed NCT01515865 Phase 4 Midodrine HCl;Placebo
9 Clinical Trial for the Prevention of Vasovagal Syncope Completed NCT00118482 Phase 4 fludrocortisone acetate
10 Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension Recruiting NCT02586623 Phase 4 Droxidopa capsules;Placebo capsules
11 Dawn Simulation and Postural Hypotension Recruiting NCT02632318 Phase 4
12 Assessment of Midodrine in the Prevention of Vasovagal Syncope: The Prevention of Syncope Trial IV Recruiting NCT01456481 Phase 4 midodrine hydrochloride;matching placebo
13 Assessment of Metoprolol in the Prevention of Vasovagal Syncope in Aging Subjects Recruiting NCT02123056 Phase 4 Metoprolol;Matching Placebo
14 Effect of Medical Treatment and Prognosis of Postural Orthostatic Tachycardia Syndrome (POTS) Active, not recruiting NCT02171988 Phase 4 Propranolol;Bisoprolol;Propranolol+pyridostigmine;Bisoprolol+pyridostgmine
15 Brain Perfusion & Oxygenation in Parkinson's Disease With NOH Not yet recruiting NCT03229174 Phase 4 Droxidopa;Placebo
16 A Phase IV Study in Subjects With Neurogenic Orthostatic Hypotension Terminated NCT00046163 Phase 4 midodrine hydrochloride (ProAmatine®)
17 Post-Exercise Hypotension in Elderly Hypertensive Men Unknown status NCT02415582 Phase 3
18 Effect of Methylprednisolone on Orthostatic Intolerance and Heart Rate Variability in Hip-arthroplasty Patients Completed NCT02445898 Phase 2, Phase 3 Methylprednisolone;Isotonic Sodium Chloride
19 Efficacy of Midodrine for the Prevention of Orthostatic Hypotension During Early Mobilization After Fast-track Hip Arthroplasty Completed NCT01707953 Phase 3 Midodrine;Placebo
20 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) (Droxi-304) Completed NCT01132326 Phase 3 Droxidopa
21 A Clinical Study for Patients With Neurogenic Orthostatic Hypotension (NOH) Using Droxidopa Completed NCT00782340 Phase 3 Placebo;Droxidopa
22 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00633880 Phase 3 Placebo;Droxidopa
23 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3 Droxidopa;Placebo
24 A Two Part Study (306A/306B) to Assess Droxidopa in Treatment of NOH in Patients With Parkinson's Disease Completed NCT01176240 Phase 3 Droxidopa
25 Stop Vasodepressor Drugs in Reflex Syncope Completed NCT02137278 Phase 3 Vasoactive drug therapies
26 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
27 Effect of Ivabradine on Patients With Postural Orthostatic Tachycardia Syndrome Recruiting NCT03182725 Phase 3 Ivabradine;Placebo
28 Peripheral Dopamine in Postural Tachycardia Syndrome Active, not recruiting NCT00685919 Phase 2, Phase 3 Carbidopa;Placebo
29 Treatment of Orthostatic Hypotension Enrolling by invitation NCT00581477 Phase 3 droxidopa;placebo;alpha-methyldopa;carbidopa;metyrosine;levodopa;atomoxetine;metoclopramide
30 Phase 3 Study to Evaluate the Efficacy and Safety of Droxidopa on Orthostatic Hypotension Treatment in Hemodialysis Patients Terminated NCT01612078 Phase 3 Droxidopa;Placebo
31 A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
32 Orthostatic Hypotension in Children With Acute Febrile Illness Unknown status NCT00452712 Phase 2
33 Cardiovascular Effects of Selective I(f)-Channel Blockade Unknown status NCT00865917 Phase 2 beta-blocker (Metoprolol);I(f)-blocker (ivabradine);Placebo
34 Fipamezole in Neurogenic Orthostatic Hypotension Unknown status NCT00758849 Phase 2 Placebo;Fipamezole
35 The Effect of Ivabradine on Patients With Postural Tachycardia Syndrome Unknown status NCT01761825 Phase 2 ivabradine
36 Sex Hormones and Orthostatic Tolerance Completed NCT01153581 Phase 2 Ganirelix acetate;17β-Oestradiol;Progesterone
37 Non-Pharmacologic Therapy for Neurocardiogenic Syncope Completed NCT00096902 Phase 2
38 Propranolol to Treat Fainting in Children With Sympathoadrenal Imbalance Completed NCT00093860 Phase 2 Propranolol
39 Intravenous Norepinephrine for Orthostatic Hypotension Completed NCT01285908 Phase 1, Phase 2 Intravenous Norepinephrine Infusion
40 Phase II Study of Midodrine for Neurogenic Orthostatic Hypotension Completed NCT00004268 Phase 2 midodrine
41 Acetylcholinesterase Inhibition and Orthostatic Hypotension in SCI Completed NCT02307526 Phase 2 Pyridostigmine Bromide
42 Transcranial Electrical Stimulation for Management of Orthostatic Instability in Acute Cervical Spinal Cord Injury Completed NCT01874782 Phase 2
43 Abdominal Binder to Treat Orthostatic Hypotension (OH) in Parkinson's Disease (PD) Completed NCT01971008 Phase 2
44 A Dose Response Trial Using 5 and 10 Mg of Midodrine Hydrochloride Completed NCT00426842 Phase 2 Midodrine Hydrochloride
45 Safety and Efficacy of L-NAME and Midodrine to Increase MAP Completed NCT00835224 Phase 2 L-NAME;Midodrine;Placebo
46 Preventing Negative Reactions in First Time Blood Donors to Encourage Subsequent Blood Donations Completed NCT00302900 Phase 2
47 Northera Improves Postural Tachycardia Syndrome (POTS) and Postural Vasovagal Syncope (VVS) Recruiting NCT02558972 Phase 2 Northera (Droxidopa);Placebo;Northera (Droxidopa);Placebo
48 TD-9855 Phase 2 in Neurogenic Orthostatic Hypotension (nOH) Recruiting NCT02705755 Phase 2 TD-9855;Placebo
49 Droxidopa / Pyridostigmine in Orthostatic Hypotension Recruiting NCT01370512 Phase 2 Droxidopa;Pyridostigmine Bromide
50 Norepinephrine Transporter Blockade, Autonomic Failure (NETAF) Recruiting NCT02784535 Phase 2 Atomoxetine;Placebo

Search NIH Clinical Center for Orthostatic Intolerance

Cochrane evidence based reviews: neurocirculatory asthenia

Genetic Tests for Orthostatic Intolerance

Genetic tests related to Orthostatic Intolerance:

id Genetic test Affiliating Genes
1 Orthostatic Intolerance 29 24 SLC6A2
2 Mitral Valve Prolapse 29

Anatomical Context for Orthostatic Intolerance

MalaCards organs/tissues related to Orthostatic Intolerance:

39
Heart, Brain, Lung, Testes, Spinal Cord, Endothelial, Eye

Publications for Orthostatic Intolerance

Articles related to Orthostatic Intolerance:

(show top 50) (show all 281)
id Title Authors Year
1
Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance. ( 27773421 )
2017
2
Novel insights into symptomatology of moyamoya disease in pediatric patients: survey of symptoms suggestive of orthostatic intolerance. ( 28862519 )
2017
3
The effects of body weight status on orthostatic intolerance and predisposition to noncardiac syncope. ( 28112481 )
2017
4
Truncal ataxia or disequilibrium is an unrecognised cause of orthostatic intolerance in patients with myalgic encephalomyelitis. ( 28613452 )
2017
5
Association of blood pressure variability with orthostatic intolerance symptoms. ( 28591231 )
2017
6
Early Orthostatic Hypotension and Orthostatic Intolerance-More Than an Observation or Annoyance. ( 28738118 )
2017
7
The role of autoantibodies in the syndromes of orthostatic intolerance: a systematic review. ( 28738696 )
2017
8
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? ( 28286774 )
2017
9
Syndromes of orthostatic intolerance and syncope in young adults. ( 28674628 )
2017
10
Patients with Orthostatic Intolerance: Relationship to Autonomic Function Tests results and Reproducibility of Symptoms on Tilt. ( 28720881 )
2017
11
Mechanisms of orthostatic intolerance during heat stress. ( 26723547 )
2016
12
Orthostatic intolerance symptoms are associated with depression and diminished quality of life in patients with postural tachycardia syndrome. ( 27729043 )
2016
13
Antroduodenal Manometry is Abnormal in Children Presenting with Orthostatic Intolerance and Gastrointestinal Symptoms. ( 26859090 )
2016
14
Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome. ( 27094596 )
2016
15
Orthostatic hypertension: An underestimated cause of orthostatic intolerance. ( 26806722 )
2016
16
Dizziness and Orthostatic Intolerance In Pediatric Headache Patients. ( 27017026 )
2016
17
Postoperative orthostatic intolerance: a common perioperative problem with few available solutions. ( 27638295 )
2016
18
Orthostatic intolerance and autonomic dysfunction following bariatric surgery: A retrospective study and review of the literature. ( 27292926 )
2016
19
Reduced Systolic Volume: Main Pathophysiological Mechanism in Patients with Orthostatic Intolerance? ( 27849259 )
2016
20
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
21
Distinct neurohumoral biomarker profiles in children with hemodynamically defined orthostatic intolerance may predict treatment options. ( 26608337 )
2016
22
Adolescent Chronic Fatigue and Orthostatic Intolerance: Relationships Between Parental Attributes and Child Functioning. ( 27421749 )
2016
23
Orthostatic Intolerance After ISS and Space Shuttle Missions. ( 26630196 )
2015
24
Orthostatic intolerance in acute vestibular neuritis. ( 25659247 )
2015
25
Orthostatic Intolerance Is Independent of the Degree of Autonomic Cardiovascular Adaptation after 60 Days of Head-Down Bed Rest. ( 26425559 )
2015
26
Slower lower limb blood pooling in young women with orthostatic intolerance. ( 25557726 )
2015
27
Orthostatic intolerance and postural tachycardia syndrome as suspected adverse effects of vaccination against human papilloma virus. ( 25882168 )
2015
28
Variability of postural orthostatic tachycardia in patients with myalgic encephalomyelitis and orthostatic intolerance. ( 26374335 )
2015
29
Orthostatic hypotension, orthostatic intolerance and frailty: The Irish Longitudinal Study on Aging-TILDA. ( 25687529 )
2015
30
Cerebral blood flow during HUTT in young patients with orthostatic intolerance. ( 26280217 )
2015
31
Intravenous Hydration for Management of Medication-Resistant Orthostatic Intolerance in the Adolescent and Young Adult. ( 26446285 )
2015
32
Postexercise orthostatic intolerance: influence of exercise intensity. ( 26040636 )
2015
33
Cerebral hemodynamics in orthostatic intolerance with normal head-up tilt test. ( 26427910 )
2015
34
Reduced venous compliance - an important determinant for orthostatic intolerance in women with vasovagal syncope. ( 26561647 )
2015
35
Autonomic activity and biomarker behavior in supine position and after passive postural stress in different orthostatic intolerance syndromes. ( 26320094 )
2015
36
Postural Tachycardia Syndrome: Beyond Orthostatic Intolerance. ( 26198889 )
2015
37
Cortical Morphology in Patients with Orthostatic Intolerance. ( 25895544 )
2015
38
Orthostatic Intolerance and Autonomic Dysfunction in Youth With Persistent Postconcussion Symptoms: A Head-Upright Tilt Table Study. ( 25706664 )
2015
39
Orthostatic intolerance--an expression of autonomic disfunction in Parkinson's disease. ( 24741779 )
2014
40
Orthostatic intolerance is common in chronic disease--a clinical cohort study. ( 24809920 )
2014
41
Utility of corrected QT interval in orthostatic intolerance. ( 25180969 )
2014
42
Renin-aldosterone paradox in patients with myalgic encephalomyelitis and orthostatic intolerance. ( 24485613 )
2014
43
Prognostic analysis of orthostatic intolerance using survival model in children. ( 25382320 )
2014
44
Effect of fludrocortisone acetate on chronic unexplained nausea and abdominal pain in children with orthostatic intolerance. ( 25222805 )
2014
45
Slower lower limb blood pooling in young women with orthostatic intolerance. ( 25361596 )
2014
46
Managing the patient with episodic sinus tachycardia and orthostatic intolerance. ( 25524735 )
2014
47
Neuropeptides and peptide hormones in syncope and orthostatic intolerance. ( 25299506 )
2014
48
Orthostatic intolerance predicts mild cognitive impairment: incidence of mild cognitive impairment and dementia from the Swedish general population cohort Good Aging in SkAYne. ( 25429211 )
2014
49
Cardiac dysfunction and orthostatic intolerance in patients with myalgic encephalomyelitis and a small left ventricle. ( 24736946 )
2014
50
Orthostatic intolerance and chronic fatigue syndrome--possible related conditions. ( 24340521 )
2013

Variations for Orthostatic Intolerance

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

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

ClinVar genetic disease variations for Orthostatic Intolerance:

6
id 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 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2 AGTR1
2
Show member pathways
12.69 ADRA2A ADRA2B ADRB1 ADRB2 EDN1
3
Show member pathways
12.63 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2 AGTR1
4 12.4 ADRB1 ADRB2 DBH POMC
5
Show member pathways
12.35 ADRA2A ADRA2B ADRA2C ADRB2 POMC
6
Show member pathways
12.07 ADRB1 ADRB2 AGTR1 NOS2 NOS3
7
Show member pathways
12 ADRA2A ADRA2B ADRA2C NOS2 NOS3
8 11.76 AGTR1 EDN1 NOS3
9 11.75 EDN1 NOS2 NOS3
10
Show member pathways
11.73 ADRA2A ADRA2B ADRA2C
11
Show member pathways
11.72 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2
12 11.69 ECE1 NOS3 POMC
13 11.5 ADRB1 ADRB2 AGTR1
14 11.42 ADRA2A ADRB1 ADRB2
15
Show member pathways
11.29 ACHE DBH SLC6A2
16 11.02 ACHE ADRB1 ECE1 EDN1
17
Show member pathways
10.94 ACHE DBH
18 10.79 ADRB1 ECE1 EDN1 NOS3
19 10.65 NOS2 NOS3
20 10.53 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2 DBH
21 10.43 NOS2 NOS3

GO Terms for Orthostatic Intolerance

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

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

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

(show all 32)
id 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 regulation of blood pressure GO:0008217 9.75 EDN1 NOS3 POMC
4 regulation of insulin secretion GO:0050796 9.74 ADRA2A ADRA2C NOS2
5 peptide hormone processing GO:0016486 9.65 ECE1 POMC
6 response to pain GO:0048265 9.65 DBH SLC6A2
7 regulation of sodium ion transport GO:0002028 9.65 ADRB2 NOS3
8 activation of protein kinase B activity GO:0032148 9.65 ADRA2A ADRA2B ADRA2C
9 regulation of blood vessel size GO:0050880 9.64 EDN1 NOS3
10 nitric oxide mediated signal transduction GO:0007263 9.63 NOS2 NOS3
11 glucose homeostasis GO:0042593 9.63 ADRA2A DBH
12 negative regulation of cAMP biosynthetic process GO:0030818 9.62 ADRA2A EDN1
13 nitric oxide biosynthetic process GO:0006809 9.61 NOS2 NOS3
14 negative regulation of multicellular organism growth GO:0040015 9.61 ADRB1 ADRB2
15 negative regulation of norepinephrine secretion GO:0010700 9.61 ADRA2A ADRA2B ADRA2C
16 negative regulation of calcium ion transport GO:0051926 9.6 ADRA2A NOS3
17 positive regulation of guanylate cyclase activity GO:0031284 9.59 NOS2 NOS3
18 diet induced thermogenesis GO:0002024 9.58 ADRB1 ADRB2
19 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.58 ECE1 EDN1 NOS3
20 adrenergic receptor signaling pathway GO:0071875 9.56 ADRA2C ADRB2
21 arginine catabolic process GO:0006527 9.55 NOS2 NOS3
22 epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway GO:0035625 9.54 ADRA2A ADRA2B ADRA2C
23 fear response GO:0042596 9.52 ADRB1 DBH
24 vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure GO:0002025 9.51 ADRB1 ADRB2
25 activation of MAPK activity by adrenergic receptor signaling pathway GO:0071883 9.5 ADRA2A ADRA2B ADRA2C
26 heat generation GO:0031649 9.49 ADRB1 ADRB2
27 regulation of smooth muscle contraction GO:0006940 9.46 ADRA2A ADRA2B ADRA2C ADRB2
28 negative regulation of epinephrine secretion GO:0032811 9.43 ADRA2A ADRA2B ADRA2C
29 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.35 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2
30 regulation of blood vessel diameter GO:0097746 9.32 AGTR1
31 regulation of vasoconstriction GO:0019229 9.1 ADRA2A ADRA2B ADRA2C AGTR1 ECE1 EDN1
32 G-protein coupled receptor signaling pathway GO:0007186 10.08 ADRA2A ADRA2B ADRA2C ADRB1 ADRB2 AGTR1

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

(show all 14)
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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....