MCID: ORT004
MIFTS: 52

Orthostatic Intolerance malady

Genetic diseases (common) category
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Summaries for Orthostatic Intolerance

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Orthostatic intolerance (OI) is the development of symptoms when standing upright which are relieved... more...

MalaCards: Orthostatic Intolerance, also known as mitral valve prolapse syndrome, is related to syncope and chronic orthostatic intolerance. An important gene associated with Orthostatic Intolerance is SLC6A2 (solute carrier family 6 (neurotransmitter transporter), member 2), and among its related pathways are Monoamine Transport and Development Dopamine D2 receptor transactivation of EGFR. The compounds rx821002 and medetomidine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and heart, and related mouse phenotypes are embryogenesis and vision/eye.

Description from OMIM:47 604715

Aliases & Classifications for Orthostatic Intolerance

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47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

orthostatic intolerance 47
mitral valve prolapse syndrome 62


Related Diseases for Orthostatic Intolerance

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17GeneCards, 18GeneDecks
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Diseases in the Orthostatic Intolerance family:

Chronic Orthostatic Intolerance

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

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1syncope10.8
2chronic orthostatic intolerance10.7
3chronic fatigue syndrome10.6
4cerebritis10.6
5postural orthostatic tachycardia syndrome10.5
6autonomic dysfunction10.4
7neuropathy10.3
8dysautonomia10.3
9tonsillitis10.1
10sudden infant death syndrome10.1
11behcet's disease10.1
12marfan syndrome10.1
13ehlers-danlos syndrome10.1
14motion sickness10.1
15multiple sclerosis10.1
16peripheral neuropathy10.1
17chronic pain10.1
18fainting10.1
19headache10.1
20spinal cord injury10.1
21fibromyalgia10.1
22endotheliitis10.1
23congestive heart failure10.1REN
24acute adrenal insufficiency10.1POMC
25gastroschisis10.1ACHE
26gitelman syndrome10.1REN
27gilles de la tourette syndrome10.1ADRA2A, SLC6A2
28acute chest syndrome10.1NOS3
29achalasia10.1POMC, ACHE
30attention deficit hyperactivity disorder10.1ADRA2A, SLC6A2, ADRA2C
31pure autonomic failure10.1REN, ACHE
32hirschsprung's disease10.1ECE1
33glucocorticoid-remediable aldosteronism10.1POMC, REN
34hypoaldosteronism10.1POMC, REN
35low renin hypertension10.1EDN1, REN
36conn's syndrome10.1POMC, REN
37renal hypertension10.1REN, EDN1
38hyperaldosteronism10.1POMC, REN
39hepatorenal syndrome10.1REN, EDN1
40adrenal adenoma10.1REN, POMC
41congenital heart disease10.1ADRB1, ADRB2, ECE1
42cushing's syndrome10.0REN, POMC
43congenital adrenal hyperplasia10.0POMC, REN
44prinzmetal's variant angina10.0EDN1, NOS3
45coronary artery vasospasm10.0EDN1, NOS3
46hypokalemia10.0POMC, ADRB2, REN
47acute myocardial infarction10.0ADRB2, EDN1, ADRB1
48myocarditis10.0ADRB1, NOS2
49panic disorder10.0SLC6A2, POMC
50pheochromocytoma10.0ADRB2, SLC6A2, POMC

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



Diseases related to orthostatic intolerance

Symptoms for Orthostatic Intolerance

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47OMIM
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Clinical features from OMIM:

604715

Drugs & Therapeutics for Orthostatic Intolerance

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Orthostatic Intolerance

Search NIH Clinical Center for Orthostatic Intolerance

Genetic Tests for Orthostatic Intolerance

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Anatomical Context for Orthostatic Intolerance

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33MalaCards
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MalaCards organs/tissues related to Orthostatic Intolerance:

33
Testes, Brain, Heart, Spinal cord, Tonsil, Endothelial

Animal Models for Orthostatic Intolerance or affiliated genes

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37MGI
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Publications for Orthostatic Intolerance

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52PubMed
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Articles related to Orthostatic Intolerance:

(show top 50)    (show all 230)
idTitleAuthorsYear
1
Orthostatic intolerance ambulation in patients using patient controlled analgesia. (23862002)
2013
2
Common syndromes of orthostatic intolerance. (23569093)
2013
3
Does goal-directed fluid therapy affect postoperative orthostatic intolerance?: A randomized trial. (23756453)
2013
4
Syncope and orthostatic intolerance increase risk of brain lesions in migraineurs and controls. (23616159)
2013
5
Orthostatic intolerance: postural orthostatic tachycardia syndrome with overlapping vasovagal syncope. (22920009)
2012
6
Orthostatic intolerance in multifocal acquired demyelinating sensory and motor neuropathy. (22922580)
2012
7
Temporal artery flow response during the last minute of a head up tilt test, in relation with orthostatic intolerance after a 60 day head-down bedrest. (22073117)
2011
8
Gradient compression garments as a countermeasure to post-spaceflight orthostatic intolerance. (20824997)
2010
9
Physiologic neurocirculatory patterns in the head-up tilt test in children with orthostatic intolerance. (18353058)
2008
10
Effect of thigh cuffs on haemodynamic changes of the middle cerebral artery and on orthostatic intolerance induced by 10 days head-down bed rest. (18565193)
2008
11
Is fatigue in Marfan syndrome related to orthostatic intolerance? (18575928)
2008
12
Orthostatic intolerance in chronic fatigue syndrome. (17349421)
2007
13
Treatment of chronic fatigue and orthostatic intolerance with propranolol. (17517256)
2007
14
Hypocapnia is a biological marker for orthostatic intolerance in some patients with chronic fatigue syndrome. (17263876)
2007
15
Acetylcholinesterase inhibition in patients with orthostatic intolerance. (17016160)
2006
16
Orthostatic intolerance and the biopsychosocial model. (15795587)
2005
17
Chronic orthostatic intolerance and the postural tachycardia syndrome (POTS). (15580191)
2004
18
Head-down bed rest reduces the breathing rate short-term variability in subjects with orthostatic intolerance. (16235432)
2004
19
Neuroendocrine changes involved in the genesis of HD-induced orthostatic intolerance. (16231457)
2004
20
A mutation in the human norepinephrine transporter gene (SLC6A2) associated with orthostatic intolerance disrupts surface expression of mutant and wild-type transporters. (12805287)
2003
21
Nitric oxide in microgravity-induced orthostatic intolerance: relevance to spinal cord injury. (12830962)
2003
22
Clinical and physiological effects of an acute alpha-1 adrenergic agonist and a beta-1 adrenergic antagonist in chronic orthostatic intolerance. (12460877)
2002
23
Mutual information detects a decreased interdependence between RR and SAP in orthostatic intolerance after microgravity condition. (15002504)
2002
24
Selective norepinephrine reuptake inhibition as a human model of orthostatic intolerance. (11804991)
2002
25
Therapeutic strategies for orthostatic intolerance: mechanisms, observations, and making patients feel better. (11904120)
2002
26
Enhanced flow-dependent vasodilatation after bed rest, a possible mechanism for orthostatic intolerance in humans. (11606010)
2001
27
Doppler measurement of cerebral and lower limb flow during a lower body negative pressure test for predicting orthostatic intolerance. (11758026)
2001
28
Syncope resulting from autonomic insufficiency syndromes associated with orthostatic intolerance. (11233955)
2001
29
Vascular perturbations in the chronic orthostatic intolerance of the postural orthostatic tachycardia syndrome. (11007589)
2000
30
Orthostatic intolerance: a disorder of young women. (10758621)
2000
31
Clinical improvement in patients with orthostatic intolerance after treatment with bisoprolol and fludrocortisone. (11198485)
2000
32
Leg venous compliance in orthostatic intolerance before and after 14-day head-down bed rest. (11758569)
2000
33
Cardiovascular peripheral effector mechanism in postflight orthostatic intolerance: a simulation study. (12697528)
2000
34
Orthostatic intolerance and the postural tachycardia syndrome: genetic and environment pathophysiologies. Neurolab Autonomic Team. (11200979)
2000
35
The epidemic of orthostatic tachycardia and orthostatic intolerance. (10037110)
1999
36
Assessment of capillary fluid shifts during orthostatic stress in normal subjects and subjects with orthostatic intolerance. (10225610)
1999
37
Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome. (10518084)
1999
38
Ethanol ingestion prolongs orthostatic intolerance in hyperthermic humans. (9641404)
1998
39
Orthostatic intolerance, blood pressure and its variability. (9794139)
1998
40
Exercise training in orthostatic intolerance. (10024932)
1998
41
Hypovolemia in syncope and orthostatic intolerance role of the renin-angiotensin system. (9274896)
1997
42
Orthostatic intolerance and orthostatic tachycardia: a heterogeneous disorder. (7780285)
1995
43
Mechanisms of post-flight orthostatic intolerance. (11538739)
1994
44
Mechanisms of vasovagal syncope: relevance to postflight orthostatic intolerance. (8089257)
1994
45
Individual differences of cerebrovascular responses to gravitational stress--prediction of orthostatic intolerance. (11539530)
1994
46
Delayed orthostatic intolerance. (1580710)
1992
47
Initial and delayed circulatory responses to orthostatic stress in normal humans and in subjects with orthostatic intolerance. (1387890)
1992
48
Orthostatic intolerance in 6 degrees head-down tilt and lower body negative pressure loading. (11537576)
1992
49
Drug effects on orthostatic intolerance induced by bedrest. (1761730)
1991
50
Cardiovascular deconditioning during weightlessness simulation and the use of lower body negative pressure as a countermeasure to orthostatic intolerance. (11537546)
1990

Variations for Orthostatic Intolerance

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Orthostatic Intolerance:

64
id Symbol AA change Variation ID SNP ID
1SLC6A2p.Ala457ProVAR_010022

Clinvar genetic disease variations for Orthostatic Intolerance:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC6A2NM_001172504.1(SLC6A2): c.1369G> C (p.Ala457Pro)single nucleotide variantPathogenicrs121918126GRCh37Chr 16, 55731917: 55731917

Expression for genes affiliated with Orthostatic Intolerance

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Orthostatic Intolerance

Search GEO for disease gene expression data for Orthostatic Intolerance.

Pathways for genes affiliated with Orthostatic Intolerance

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Sources:
50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN, 55Reactome, 51PharmGKB, 30KEGG
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Pathways related to Orthostatic Intolerance according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Serotonin Transporter Activity38
9.9SLC6A2, ACHE
2
Show member pathways
Apoptosis and survival BAD phosphorylation60
Development Alpha 2 adrenergic receptor activation of ERK60
Chemotaxis CXCR4 signaling pathway60
9.6ADRA2C, ADRA2B, ADRA2A
3
Show member pathways
9.6ADRA2C, ADRA2A, ADRA2B
49.5ADRB1, ADRA2A, ADRB2
5
Show member pathways
9.4NOS3, REN
6
Show member pathways
9.4POMC, EDN1
79.3ADRB2, ADRB1, POMC
8
Show member pathways
Calcium Regulation in the Cardiac Cell38
9.3NOS3, ADRB2, ADRB1
9
Show member pathways
9.2ACHE, POMC, REN
109.1NOS2, NOS3
11
Show member pathways
9.1NOS2, NOS3
12
Show member pathways
9.1NOS3, NOS2
139.1NOS3, NOS2
14
Show member pathways
Quercetin and Nf-kB/ AP-1 induced cell apoptosis38
9.1NOS2, NOS3
15
Show member pathways
9.1ADRA2C, ADRA2A, ADRA2B, NOS3
169.1ECE1, POMC, NOS3
17
Show member pathways
8.9ADRA2B, ADRB1, ADRB2, ADRA2C, ADRA2A
18
Show member pathways
8.8POMC, ADRA2B, ADRA2A, ADRA2C, ADRB2
198.7ADRA2B, ADRB2, ADRA2C, ADRA2A, SLC6A2, ADRB1
208.6ECE1, EDN1, NOS3, ADRB1
21
Show member pathways
8.6ADRA2A, ADRB2, EDN1, ADRB1, ADRA2B
228.5EDN1, NOS2, NOS3
238.4NOS2, ADRB2, ADRB1, NOS3
24
Show member pathways
8.4ADRB2, NOS3, ADRA2A, ADRA2B, ADRB1, ADRA2C
25
Show member pathways
8.3NOS3, ADRA2B, ADRA2C, ADRA2A, NOS2
26
Show member pathways
7.9ADRA2A, ADRA2C, ADRB2, EDN1, ADRA2B, ADRB1
27
Show member pathways
7.6EDN1, ADRA2B, NET1, ADRB1, ADRA2A, ADRA2C
28
Show member pathways
7.5POMC, ADRA2A, ADRA2C, ACHE, NOS2, NAT1

Compounds for genes affiliated with Orthostatic Intolerance

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29IUPHAR, 61Tocris Bioscience, 45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB
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Compounds related to Orthostatic Intolerance according to GeneCards/GeneDecks:

(show top 50)    (show all 227)
idCompoundScoreTop Affiliating Genes
1rx8210022910.0ADRA2A, ADRA2C, ADRA2B
2medetomidine hydrochloride6110.0ADRA2B, ADRA2C, ADRA2A
3arc-2392910.0ADRA2C, ADRA2A, ADRA2B
4brl 444082910.0ADRA2C, ADRA2A, ADRA2B
5[3h]rx8210022910.0ADRA2B, ADRA2A, ADRA2C
6brl 44408 maleate6110.0ADRA2C, ADRA2A, ADRA2B
7jp 1302 dihydrochloride6110.0ADRA2B, ADRA2A, ADRA2C
8atipamezole hydrochloride6110.0ADRA2B, ADRA2A, ADRA2C
9dexmedetomidine hydrochloride6110.0ADRA2B, ADRA2A, ADRA2C
10[3h]mk-9122910.0ADRA2C, ADRA2A, ADRA2B
11[3h]rauwolscine299.9ADRA2A, ADRA2B, ADRA2C
12(plusmn)-adrenaline299.9ADRA2B, ADRB1, ADRA2C
13xylazine45 2910.9ADRA2C, ADRA2A, ADRA2B
14tizanidine45 1110.9ADRA2C, ADRA2A, ADRA2B
15guanfacine29 45 1111.8ADRA2B, ADRA2A, ADRA2C
16wb 4101299.8ADRA2C, ADRA2A, ADRA2B
17doxepin45 29 51 1112.7ADRA2A, SLC6A2, ADRA2C, ADRA2B
18pseudoephedrine45 24 1111.7ADRB2, ADRA2A, ADRB1, SLC6A2
19phenoxybenzamine45 1110.7ADRA2B, ADRA2A, ADRA2C, ADRB2
20rauwolscine299.6ADRA2C, ADRA2A, ADRA2B
21prazosin45 29 51 1112.6ADRA2B, ADRB1, ADRA2A, ADRA2C
22(-)-noradrenaline299.5ADRA2C, ADRA2B, ADRA2A
23fenoldopam45 1110.5ADRA2B, REN, ADRA2C, ADRA2A
24labetalol45 1110.5REN, ADRB1, ADRB2
25bucindolol45 5110.4REN, ADRB1, ADRA2C, ADRB2
26asenapine29 1110.4ADRA2A, ADRA2C, ADRA2B, ADRB1, ADRB2
27risperidone45 51 29 61 24 1114.3ADRA2B, ADRA2A, ADRA2C, ADRB2, ADRB1
28metoprolol45 51 29 24 1113.1REN, NOS3, ADRB2, ADRB1
29clozapine45 29 51 1112.1ADRA2B, ADRA2A, ADRA2C, ADRB2, POMC
30muraglitazar45 5110.1REN, ADRB1, EDN1
31atenolol45 51 29 24 1112.8ADRB1, REN, ADRB2, ADRA2A, EDN1
32n(g),n(g)-dimethylarginine458.6NOS2, EDN1, NOS3
33carvedilol45 51 29 1111.5REN, ADRB1, ADRB2, NOS3, EDN1
34catecholamine458.4ADRB1, POMC, ADRA2A, ADRA2C, SLC6A2, REN
35nebivolol45 119.3EDN1, ADRB1, ADRB2, NOS2, NOS3
36clonidine45 51 29 1111.3ADRA2B, NOS3, REN, ADRA2C, ADRA2A, ADRB1
37nitroglycerin45 119.1EDN1, REN, NOS2, NOS3
38dopamine45 29 24 1111.1SLC6A2, REN, ADRB2, ADRA2C, ADRA2A, ADRB1
39forskolin45 51 1110.0POMC, ADRB1, ADRA2C, ADRB2, REN, SLC6A2
40ang ii458.0NOS2, REN, EDN1, NOS3
41cgmp45 298.9REN, NOS2, SLC6A2, NOS3, EDN1
42isoproterenol45 118.9ADRB2, ADRA2A, REN, NOS2, ADRB1, EDN1
43glucose457.9POMC, ECE1, ADRB1, ADRA2B, ADRA2A, ADRB2
44epinephrine45 24 119.8REN, EDN1, POMC, ADRB1, ADRA2A, ADRB2
45glutamate457.7ADRA2B, NOS3, NOS2, ADRB1, SLC6A2, ADRA2A
46phenylephrine45 29 24 1110.6ADRA2B, EDN1, POMC, ADRB1, ADRA2A, NOS2
47norepinephrine45 24 119.5ADRA2A, ADRA2C, ADRB2, REN, SLC6A2, ADRA2B
48acetylcholine45 51 29 24 1111.5ADRB2, SLC6A2, NOS3, NOS2, ACHE, POMC
49indomethacin45 29 61 1110.4POMC, ECE1, REN, NOS2, EDN1, NOS3
50nitric oxide45 24 119.0ADRB1, ECE1, NOS3, NOS2, REN, NAT1

GO Terms for genes affiliated with Orthostatic Intolerance

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16Gene Ontology
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Cellular components related to Orthostatic Intolerance according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:0057689.4ECE1, ADRA2C, ADRB2
2integral component of plasma membraneGO:0058878.4ADRA2C, ADRA2A, ADRA2B, ADRB2, SLC6A2, ADRB1
3plasma membraneGO:0058866.8ADRA2A, ECE1, ADRB1, ADRA2B, ADRA2C, ADRB2

Biological processes related to Orthostatic Intolerance according to GeneCards/GeneDecks:

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of uterine smooth muscle contractionGO:07047310.3ADRA2C, ADRA2A
2fear responseGO:04259610.2ADRB1, ADRA2A
3heat generationGO:03164910.1ADRB1, ADRB2
4vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressureGO:00202510.1ADRB1, ADRB2
5negative regulation of smooth muscle contractionGO:04598610.1ADRB1, ADRB2
6diet induced thermogenesisGO:00202410.1ADRB2, ADRB1
7activation of MAPK activity by adrenergic receptor signaling pathwayGO:07188310.0ADRA2C, ADRA2A, ADRA2B
8epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathwayGO:03562510.0ADRA2B, ADRA2A, ADRA2C
9negative regulation of epinephrine secretionGO:03281110.0ADRA2B, ADRA2A, ADRA2C
10negative regulation of norepinephrine secretionGO:01070010.0ADRA2C, ADRA2A, ADRA2B
11activation of protein kinase B activityGO:03214810.0ADRA2B, ADRA2A, ADRA2C
12negative regulation of multicellular organism growthGO:04001510.0ADRB2, ADRB1
13female pregnancyGO:0075659.9ADRA2B, ADRA2A, ADRA2C
14negative regulation of calcium ion transportGO:0519269.9ADRA2A, NOS3
15negative regulation of cAMP biosynthetic processGO:0308189.8EDN1, ADRA2A
16regulation of sodium ion transportGO:0020289.8ADRB2, NOS3
17peptide hormone processingGO:0164869.8ECE1, POMC
18activation of adenylate cyclase activityGO:0071909.8ADRB2, ADRB1
19regulation of sensory perception of painGO:0519309.7ADRA2C, EDN1
20brown fat cell differentiationGO:0508739.7ADRB1, ADRB2
21platelet activationGO:0301689.6ADRA2C, ADRA2A, ADRA2B
22regulation of vasoconstrictionGO:0192299.5EDN1, ECE1, ADRA2A
23response to coldGO:0094099.5ADRB2, ADRB1
24arginine catabolic processGO:0065279.4NOS3, NOS2
25positive regulation of guanylate cyclase activityGO:0312849.4NOS3, NOS2
26regulation of insulin secretionGO:0507969.4ADRA2A, ADRA2C, NOS2
27nitric oxide biosynthetic processGO:0068099.4NOS2, NOS3
28regulation of blood pressureGO:0082179.3NOS3, REN, POMC
29regulation of systemic arterial blood pressure by endothelinGO:0031009.3NOS3, ECE1, EDN1
30G-protein coupled receptor signaling pathwayGO:0071869.3ADRA2C, ADRA2A, ADRA2B, EDN1
31nitric oxide mediated signal transductionGO:0072639.3NOS2, NOS3
32positive regulation of vasodilationGO:0459099.2ADRA2A, NOS2, NOS3
33cell-cell signalingGO:0072679.2EDN1, POMC, ADRA2B, ADRA2C
34negative regulation of blood pressureGO:0457769.2NOS2, NOS3
35blood coagulationGO:0075968.7ADRA2B, ADRA2A, ADRA2C, NOS2, NOS3

Molecular functions related to Orthostatic Intolerance according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1alpha-2A adrenergic receptor bindingGO:0316949.9ADRA2C, ADRB1
2alpha2-adrenergic receptor activityGO:0049389.8ADRA2B, ADRA2A, ADRA2C
3norepinephrine bindingGO:0513809.7ADRB2, ADRA2A, ADRB1
4epinephrine bindingGO:0513799.5ADRA2C, ADRA2A, ADRA2B, ADRB1
5nitric-oxide synthase activityGO:0045179.3NOS3, NOS2
6arginine bindingGO:0346189.2NOS2, NOS3
7tetrahydrobiopterin bindingGO:0346179.2NOS2, NOS3
8FMN bindingGO:0101819.1NOS3, NOS2
9NADPH-hemoprotein reductase activityGO:0039589.0NOS2, NOS3
10protein homodimerization activityGO:0428038.1ECE1, ADRA2A, ADRA2C, ADRB2, ACHE, NOS2
11protein bindingGO:0055156.1EDN1, ADRB1, ADRA2B, ADRA2A, ADRA2C, ADRB2

Products for genes affiliated with Orthostatic Intolerance

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Sources for Orthostatic Intolerance

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
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53QIAGEN
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