MCID: ORT004
MIFTS: 39

Orthostatic Intolerance malady

Summaries for Orthostatic Intolerance

About this section
Sources:
63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:63 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 chronic fatigue syndrome and thyroiditis. An important gene associated with Orthostatic Intolerance is SLC6A2 (solute carrier family 6 (neurotransmitter transporter), member 2), and among its related pathways are Integrin alphaIIb beta3 signaling and Regulation of Water Balance by Renal Aquaporins. The compounds rx821002 and [3h]rx821002 have been mentioned in the context of this disorder. Related mouse phenotypes are endocrine/exocrine gland and renal/urinary system.

Description from OMIM:46 604715

Aliases & Classifications for Orthostatic Intolerance

About this section
Sources:
46OMIM, 60UMLS
See all sources

Aliases & Descriptions:

orthostatic intolerance 46
mitral valve prolapse syndrome 60


Related Diseases for Orthostatic Intolerance

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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 116)
idRelated DiseaseScoreTop Affiliating Genes
1chronic fatigue syndrome30.9POMC
2thyroiditis30.3POMC
3ischemia30.3ADRB2, EDN1, ECE1, SLC6A2, NOS3, NOS2
4mitral valve prolapse11.0
5cerebritis10.6
6neurocirculatory asthenia10.5
7postural orthostatic tachycardia syndrome10.3
8chronic orthostatic intolerance10.3
9agoraphobia10.2
10panic disorder10.2
11adult syndrome10.2
12tietze's syndrome10.2
13heart valve disease10.2
14heart valve prolapse10.2
15mitral valve disease10.2
16mitral valve prolapse, familial, x-linked10.2
17familial mitral valve prolapse10.2
18neuropathy10.2
19marfan syndrome10.1
20sudden infant death syndrome10.1
21tonsillitis10.1
22behcet's disease10.1
23ehlers-danlos syndrome10.1
24motion sickness10.1
25multiple sclerosis10.1
26peripheral neuropathy10.1
27neuroblastoma10.0SLC6A2
28pulmonary disease, chronic obstructive10.0ADRB2
29polycystic ovary syndrome10.0POMC
30down syndrome10.0ACHE
31nephrotic syndrome10.0POMC
32dementia10.0ACHE
33vitiligo10.0POMC
34prion disease10.0POMC
35hypothyroidism10.0POMC
36growth hormone deficiency10.0POMC
37adrenocortical carcinoma10.0POMC
38hirschsprung's disease10.0ECE1
39thromboembolism10.0NOS3
40anorexia nervosa10.0SLC6A2, POMC
41pulmonary fibrosis10.0EDN1
42acromegaly10.0POMC
43intracranial aneurysm10.0NOS3
44spina bifida10.0NAT1
45brain ischemia10.0NOS3
46achalasia10.0ACHE, POMC
47cerebrovascular disease10.0ACHE
48glomerulonephritis10.0NOS2
49schizophrenia10.0ADRA2A, ACHE, SLC6A2
50myocarditis10.0ADRB1, NOS2

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



Diseases related to orthostatic intolerance

Clinical Features for Orthostatic Intolerance

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

604715

Drugs & Therapeutics for Orthostatic Intolerance

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Orthostatic Intolerance

Drug clinical trials:

Search ClinicalTrials for Orthostatic Intolerance

Search NIH Clinical Center for Orthostatic Intolerance

Search CenterWatch for Orthostatic Intolerance

Genetic Tests for Orthostatic Intolerance

About this section

Anatomical Context for Orthostatic Intolerance

About this section

Animal Models for Orthostatic Intolerance or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Orthostatic Intolerance:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.2ECE1
2MP:00053678.3EDN1, POMC, REN, ADRA2B
3MP:00053757.8POMC, NOS3, NOS2, ACHE, ADRB1, ADRB2
4MP:00053807.7EDN1, ECE1, NAT1, NOS3, ADRA2A, ADRA2B
5MP:00053907.4ADRB2, ADRB1, NOS2, NOS3, ECE1, EDN1
6MP:00053976.8POMC, ECE1, REN, NOS3, NOS2, ACHE
7MP:00053786.6POMC, REN, SLC6A2, NOS3, NOS2, ACHE
8MP:00053866.6NOS3, SLC6A2, REN, POMC, NOS2, ACHE
9MP:00053696.5EDN1, ECE1, REN, NOS3, NOS2, ACHE
10MP:00036316.0EDN1, POMC, ECE1, REN, NAT1, SLC6A2
11MP:00053855.8EDN1, POMC, ECE1, REN, NOS3, NOS2
12MP:00107685.8REN, ECE1, POMC, EDN1, NOS3, NOS2
13MP:00053765.0ADRA2C, EDN1, POMC, ECE1, REN, NAT1

Publications for Orthostatic Intolerance

About this section

Genetic Variations for Orthostatic Intolerance

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Orthostatic Intolerance:

62
id Symbol AA change Variation ID SNP ID
1SLC6A2p.Ala457ProVAR_010022

Expression for genes affiliated with Orthostatic Intolerance

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 49PharmGKB, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG
See all sources

Pathways related to Orthostatic Intolerance according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6ADRA2C, ADRA2B, ADRA2A
2
Hide members
9.6ADRA2A, ADRA2B, ADRA2C
39.5ADRA2A, ADRB1, ADRB2
4
Hide members
9.4NOS3, REN
5
Hide members
9.2ADRA2A, ADRB1, ADRB2, ADRA2C
6
Hide members
9.2ADRA2A, ADRB1, ADRA2B, ADRB2
7
Hide members
9.2ACHE, REN, POMC
8
Hide members
9.1NOS2, NOS3
9
NO-dependent CFTR activation (normal and CF)
9.1NOS2, NOS3
109.1NOS3, ADRA2A, ADRA2B, ADRA2C
11
Hide members
8.7ADRA2C, ADRB2, ADRA2B, ADRB1, ADRA2A, SLC6A2
128.6EDN1, ECE1, NOS3, ADRB1
13
Hide members
8.6EDN1, ADRA2A, ADRB1, ADRA2B, ADRB2
148.5NOS2, NOS3, EDN1
158.4NOS3, NOS2, ADRB1, ADRB2
16
Hide members
8.4NOS3, ADRA2A, ADRB1, ADRA2B, ADRB2, ADRA2C
17
Hide members
8.3NOS3, NOS2, ADRA2A, ADRA2B, ADRA2C
18
Hide members
8.1EDN1, POMC, ADRA2A, ADRB1, ADRA2B, ADRB2
19
Hide members
8.0NAT1, NOS3, NOS2, ACHE, ADRA2A, ADRA2C
20
Hide members
7.6EDN1, NET1, POMC, ADRA2A, ADRB1, ADRA2B

Compounds for genes affiliated with Orthostatic Intolerance

About this section
Sources:
28IUPHAR, 59Tocris Bioscience, 11DrugBank, 44Novoseek, 49PharmGKB, 24HMDB
See all sources

Compounds related to Orthostatic Intolerance according to GeneCards/GeneDecks:

(show top 50)    (show all 214)
idCompoundScoreTop Affiliating Genes
1rx8210022810.0ADRA2B, ADRA2C, ADRA2A
2[3h]rx8210022810.0ADRA2A, ADRA2B, ADRA2C
3arc-2392810.0ADRA2C, ADRA2B, ADRA2A
4brl 444082810.0ADRA2C, ADRA2B, ADRA2A
5[3h]mk-9122810.0ADRA2A, ADRA2C, ADRA2B
6brl 44408 maleate5910.0ADRA2B, ADRA2C, ADRA2A
7dexmedetomidine hydrochloride5910.0ADRA2C, ADRA2B, ADRA2A
8atipamezole hydrochloride5910.0ADRA2C, ADRA2B, ADRA2A
9jp 1302 dihydrochloride5910.0ADRA2C, ADRA2B, ADRA2A
10medetomidine hydrochloride5910.0ADRA2A, ADRA2B, ADRA2C
11Bethanidine1110.0ADRA2C, ADRA2B, ADRA2A
12xylazine28 4410.9ADRA2C, ADRA2A, ADRA2B
13[3h]rauwolscine289.9ADRA2B, ADRA2A, ADRA2C
14(±)-adrenaline289.9ADRA2C, ADRA2B, ADRB1
15tizanidine44 1110.9ADRA2C, ADRA2A, ADRA2B
16wb 4101289.8ADRA2C, ADRA2A, ADRA2B
17guanfacine28 44 1111.8ADRA2C, ADRA2B, ADRA2A
18Xylometazoline119.8ADRA2A, ADRA2B, ADRA2C
19doxepin44 28 49 1112.7ADRA2A, SLC6A2, ADRA2B, ADRA2C
20Dronedarone119.7ADRA2A, ADRB1, ADRA2B, ADRA2C
21(-)-noradrenaline289.7ADRA2A, ADRA2C, ADRA2B
22pseudoephedrine44 11 2411.7ADRB1, ADRA2A, ADRB2, SLC6A2
23phenoxybenzamine44 1110.7ADRA2B, ADRA2C, ADRB2, ADRA2A
24prazosin44 28 49 1112.6ADRB1, ADRA2C, ADRA2B, ADRA2A
25rauwolscine289.5ADRA2A, ADRA2C, ADRA2B
26fenoldopam44 1110.5REN, ADRA2A, ADRA2B, ADRA2C
27labetalol44 1110.4REN, ADRB2, ADRB1
28isoproterenol44 1110.4NOS2, ADRB1, ADRA2A
29bucindolol49 4410.4ADRA2C, ADRB2, ADRB1, REN
30asenapine28 1110.4ADRB1, ADRA2A, ADRB2, ADRA2C, ADRA2B
31Droxidopa119.2ADRB1, ADRA2C, ADRB2, ADRA2B, ADRA2A, SLC6A2
32Ephedra119.1ADRA2C, ADRA2B, ADRB1, ADRA2A, SLC6A2, ADRB2
33metoprolol44 28 49 11 2413.1REN, NOS3, ADRB1, ADRB2
34clozapine44 28 49 1112.1POMC, ADRA2A, ADRA2B, ADRB2, ADRA2C
35muraglitazar49 4410.1ADRB1, EDN1, REN
36norepinephrine44 11 2411.1ADRB1, ADRA2C, ADRA2B, SLC6A2, POMC, ADRA2A
37dopamine44 28 11 2411.9ADRB1, ADRB2, ADRA2A, SLC6A2, REN, ADRA2C
38carvedilol44 49 28 1111.5ADRB2, ADRB1, EDN1, NOS3, REN
39n(g),n(g)-dimethylarginine448.5NOS2, EDN1, NOS3
40catecholamine448.4REN, ADRA2C, ADRA2A, POMC, ADRB1, ADRB2
41nebivolol44 119.3ADRB2, ADRB1, NOS2, NOS3, EDN1
42clonidine44 28 1110.3ADRA2B, POMC, REN, NOS3, ADRA2C, ADRA2A
43epinephrine44 11 249.8EDN1, ADRA2B, POMC, REN, SLC6A2, ADRA2A
44cgmp44 288.8NOS2, REN, SLC6A2, NOS3, EDN1
45nitroglycerin44 118.7REN, NOS2, NOS3, EDN1
46phenylephrine44 28 11 2410.6ADRA2B, ADRB1, ADRA2A, NOS2, NOS3, POMC
47glutamate447.5NOS3, SLC6A2, NOS2, ACHE, ADRA2A, ADRA2B
48acetylcholine44 49 28 11 2411.5ADRB2, EDN1, POMC, ACHE, SLC6A2, NOS2
49indomethacin44 59 28 1110.4ECE1, NOS2, NOS3, REN, EDN1, POMC
50nitric oxide44 11 248.9ADRB1, ADRB2, NOS3, NOS2, REN, ECE1

GO Terms for genes affiliated with Orthostatic Intolerance

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Orthostatic Intolerance according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:0057689.4ADRA2C, ADRB2, ECE1
2integral to plasma membraneGO:0058878.4SLC6A2, ADRA2A, ADRB1, ADRA2B, ADRB2, ADRA2C
3plasma membraneGO:0058866.8ADRA2C, ECE1, REN, SLC6A2, NOS3, ACHE

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of uterine smooth muscle contractionGO:07047310.3ADRA2C, ADRA2A
2fear responseGO:04259610.2ADRA2A, ADRB1
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, ADRA2B, ADRA2A
8epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathwayGO:03562510.0ADRA2A, ADRA2B, ADRA2C
9negative regulation of epinephrine secretionGO:03281110.0ADRA2A, ADRA2B, ADRA2C
10negative regulation of norepinephrine secretionGO:01070010.0ADRA2C, ADRA2B, ADRA2A
11activation of protein kinase B activityGO:03214810.0ADRA2C, ADRA2B, ADRA2A
12negative regulation of multicellular organism growthGO:0400159.9ADRB1, ADRB2
13female pregnancyGO:0075659.9ADRA2C, ADRA2B, ADRA2A
14negative regulation of calcium ion transportGO:0519269.8ADRA2A, NOS3
15negative regulation of cAMP biosynthetic processGO:0308189.7ADRA2A, EDN1
16regulation of sensory perception of painGO:0519309.6ADRA2C, EDN1
17regulation of sodium ion transportGO:0020289.6ADRB2, NOS3
18regulation of vasoconstrictionGO:0192299.5EDN1, ECE1, ADRA2A
19positive regulation of guanylate cyclase activityGO:0312849.5NOS3, NOS2
20arginine catabolic processGO:0065279.4NOS3, NOS2
21peptide hormone processingGO:0164869.3ECE1, POMC
22regulation of insulin secretionGO:0507969.3ADRA2C, ADRA2A, NOS2
23regulation of systemic arterial blood pressure by endothelinGO:0031009.3NOS3, ECE1, EDN1
24regulation of blood pressureGO:0082179.3NOS3, REN, POMC
25G-protein coupled receptor signaling pathwayGO:0071869.2EDN1, ADRA2A, ADRA2B, ADRA2C
26nitric oxide biosynthetic processGO:0068099.2NOS3, NOS2
27positive regulation of vasodilationGO:0459099.2ADRA2A, NOS2, NOS3
28cell-cell signalingGO:0072679.1EDN1, POMC, ADRA2B, ADRA2C
29nitric oxide mediated signal transductionGO:0072639.0NOS3, NOS2
30blood coagulationGO:0075968.6ADRA2C, ADRA2B, ADRA2A, NOS2, NOS3

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1alpha2-adrenergic receptor activityGO:0049389.8ADRA2A, ADRA2B, ADRA2C
2alpha-2A adrenergic receptor bindingGO:0316949.8ADRA2C, ADRB1
3norepinephrine bindingGO:0513809.7ADRB2, ADRB1, ADRA2A
4epinephrine bindingGO:0513799.5ADRA2C, ADRA2B, ADRB1, ADRA2A
5nitric-oxide synthase activityGO:0045179.2NOS2, NOS3
6arginine bindingGO:0346189.2NOS3, NOS2
7tetrahydrobiopterin bindingGO:0346179.1NOS3, NOS2
8FMN bindingGO:0101819.1NOS2, NOS3
9NADPH-hemoprotein reductase activityGO:0039588.8NOS2, NOS3
10protein homodimerization activityGO:0428038.1ECE1, NOS2, ACHE, ADRA2A, ADRB2, ADRA2C

Products for genes affiliated with Orthostatic Intolerance

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Orthostatic Intolerance

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet