U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Orthostatic hypotension 2(ORTHYP2)

MedGen UID:
1648282
•Concept ID:
C4748569
•
Disease or Syndrome
Synonyms: ORTHOSTATIC HYPOTENSION 2; ORTHYP2
 
Gene (location): CYB561 (17q23.3)
 
Monarch Initiative: MONDO:0020751
OMIM®: 618182

Definition

Orthostatic hypotension-2 is an autosomal recessive disorder characterized by severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. Some patients may also have renal dysfunction and reduced life expectancy. The disorder results from a defect in the biosynthesis of norepinephrine from dopamine due to a cofactor deficiency. For a discussion of genetic heterogeneity of ORTHYP, see ORTHYP1 (223360). [from OMIM]

Clinical features

From HPO
Decreased glomerular filtration rate
MedGen UID:
163428
•Concept ID:
C0853068
•
Finding
An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
See: Feature record | Search on this feature
Orthostatic hypotension
MedGen UID:
43803
•Concept ID:
C0020651
•
Disease or Syndrome
A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
See: Feature record | Search on this feature
Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
See: Feature record | Search on this feature
Hypoglycemia
MedGen UID:
6979
•Concept ID:
C0020615
•
Disease or Syndrome
A decreased concentration of glucose in the blood.
See: Feature record | Search on this feature
Show allHide all

Professional guidelines

PubMed

Quetiapine for Bipolar Depressive Episode in Obsessive-Compulsive Disorder Patients Maintained on Selective Serotonin Reuptake Inhibitor Treatment.
Poyurovsky M, Weizman A
Clin Neuropharmacol 2021 Jul-Aug 01;44(4):123-125. doi: 10.1097/WNF.0000000000000456. PMID: 33811191
Risk assessment of patient falls while taking medications ordered in a teaching hospital.
Ferreira Neto CJ, Rocha AS, Schmidt L, de Almeida FP, Dutra JC, da Rocha MD
Rev Bras Enferm 2015 Mar-Apr;68(2):278-83, 305-10. doi: 10.1590/0034-7167.2015680217i. PMID: 26222175

Recent clinical studies

Etiology

Orthostatic Hypotension, Hypertension Treatment, and Cardiovascular Disease: An Individual Participant Meta-Analysis.
Juraschek SP, Hu JR, Cluett JL, Ishak AM, Mita C, Lipsitz LA, Appel LJ, Beckett NS, Coleman RL, Cushman WC, Davis BR, Grandits G, Holman RR, Miller ER 3rd, Peters R, Staessen JA, Taylor AA, Thijs L, Wright JT Jr, Mukamal KJ
JAMA 2023 Oct 17;330(15):1459-1471. doi: 10.1001/jama.2023.18497. PMID: 37847274Free PMC Article
Hypertension, hypotension and syncope.
Rivasi G, Fedorowski A
Minerva Med 2022 Apr;113(2):251-262. Epub 2021 Apr 21 doi: 10.23736/S0026-4806.21.07562-5. PMID: 33881284
Differential diagnosis of orthostatic hypotension.
Lei LY, Chew DS, Raj SR
Auton Neurosci 2020 Nov;228:102713. Epub 2020 Aug 1 doi: 10.1016/j.autneu.2020.102713. PMID: 32805514Free PMC Article
Orthostatic Hypotension and Falls in Older Adults: A Systematic Review and Meta-analysis.
Mol A, Bui Hoang PTS, Sharmin S, Reijnierse EM, van Wezel RJA, Meskers CGM, Maier AB
J Am Med Dir Assoc 2019 May;20(5):589-597.e5. Epub 2018 Dec 21 doi: 10.1016/j.jamda.2018.11.003. PMID: 30583909
Assessment and management of fall risk in primary care settings.
Phelan EA, Mahoney JE, Voit JC, Stevens JA
Med Clin North Am 2015 Mar;99(2):281-93. doi: 10.1016/j.mcna.2014.11.004. PMID: 25700584Free PMC Article

Diagnosis

Orthostatic Hypotension in Adults With Hypertension: A Scientific Statement From the American Heart Association.
Juraschek SP, Cortez MM, Flack JM, Ghazi L, Kenny RA, Rahman M, Spikes T, Shibao CA, Biaggioni I; American Heart Association Council on Hypertension
Hypertension 2024 Mar;81(3):e16-e30. Epub 2024 Jan 11 doi: 10.1161/HYP.0000000000000236. PMID: 38205630Free PMC Article
Orthostatic Hypotension, Hypertension Treatment, and Cardiovascular Disease: An Individual Participant Meta-Analysis.
Juraschek SP, Hu JR, Cluett JL, Ishak AM, Mita C, Lipsitz LA, Appel LJ, Beckett NS, Coleman RL, Cushman WC, Davis BR, Grandits G, Holman RR, Miller ER 3rd, Peters R, Staessen JA, Taylor AA, Thijs L, Wright JT Jr, Mukamal KJ
JAMA 2023 Oct 17;330(15):1459-1471. doi: 10.1001/jama.2023.18497. PMID: 37847274Free PMC Article
Dysautonomia: A Forgotten Condition - Part 1.
Rocha EA, Mehta N, Távora-Mehta MZP, Roncari CF, Cidrão AAL, Elias Neto J
Arq Bras Cardiol 2021 Apr;116(4):814-835. doi: 10.36660/abc.20200420. PMID: 33886735Free PMC Article
The recommendations of a consensus panel for the screening, diagnosis, and treatment of neurogenic orthostatic hypotension and associated supine hypertension.
Gibbons CH, Schmidt P, Biaggioni I, Frazier-Mills C, Freeman R, Isaacson S, Karabin B, Kuritzky L, Lew M, Low P, Mehdirad A, Raj SR, Vernino S, Kaufmann H
J Neurol 2017 Aug;264(8):1567-1582. Epub 2017 Jan 3 doi: 10.1007/s00415-016-8375-x. PMID: 28050656Free PMC Article
Assessment and management of fall risk in primary care settings.
Phelan EA, Mahoney JE, Voit JC, Stevens JA
Med Clin North Am 2015 Mar;99(2):281-93. doi: 10.1016/j.mcna.2014.11.004. PMID: 25700584Free PMC Article

Therapy

Orthostatic Hypotension in Adults With Hypertension: A Scientific Statement From the American Heart Association.
Juraschek SP, Cortez MM, Flack JM, Ghazi L, Kenny RA, Rahman M, Spikes T, Shibao CA, Biaggioni I; American Heart Association Council on Hypertension
Hypertension 2024 Mar;81(3):e16-e30. Epub 2024 Jan 11 doi: 10.1161/HYP.0000000000000236. PMID: 38205630Free PMC Article
Orthostatic Hypotension, Hypertension Treatment, and Cardiovascular Disease: An Individual Participant Meta-Analysis.
Juraschek SP, Hu JR, Cluett JL, Ishak AM, Mita C, Lipsitz LA, Appel LJ, Beckett NS, Coleman RL, Cushman WC, Davis BR, Grandits G, Holman RR, Miller ER 3rd, Peters R, Staessen JA, Taylor AA, Thijs L, Wright JT Jr, Mukamal KJ
JAMA 2023 Oct 17;330(15):1459-1471. doi: 10.1001/jama.2023.18497. PMID: 37847274Free PMC Article
Drug-induced orthostatic hypotension: A systematic review and meta-analysis of randomised controlled trials.
Bhanu C, Nimmons D, Petersen I, Orlu M, Davis D, Hussain H, Magammanage S, Walters K
PLoS Med 2021 Nov;18(11):e1003821. Epub 2021 Nov 9 doi: 10.1371/journal.pmed.1003821. PMID: 34752479Free PMC Article
Orthostatic Hypotension and Falls in Older Adults: A Systematic Review and Meta-analysis.
Mol A, Bui Hoang PTS, Sharmin S, Reijnierse EM, van Wezel RJA, Meskers CGM, Maier AB
J Am Med Dir Assoc 2019 May;20(5):589-597.e5. Epub 2018 Dec 21 doi: 10.1016/j.jamda.2018.11.003. PMID: 30583909
New Horizons in orthostatic hypotension.
Frith J, Parry SW
Age Ageing 2017 Mar 1;46(2):168-174. doi: 10.1093/ageing/afw211. PMID: 27864240

Prognosis

Dysautonomia: A Forgotten Condition - Part 1.
Rocha EA, Mehta N, Távora-Mehta MZP, Roncari CF, Cidrão AAL, Elias Neto J
Arq Bras Cardiol 2021 Apr;116(4):814-835. doi: 10.36660/abc.20200420. PMID: 33886735Free PMC Article
Vitamin B12 Supplementation in Diabetic Neuropathy: A 1-Year, Randomized, Double-Blind, Placebo-Controlled Trial.
Didangelos T, Karlafti E, Kotzakioulafi E, Margariti E, Giannoulaki P, Batanis G, Tesfaye S, Kantartzis K
Nutrients 2021 Jan 27;13(2) doi: 10.3390/nu13020395. PMID: 33513879Free PMC Article
Update on the Impact, Diagnosis and Management of Cardiovascular Autonomic Neuropathy in Diabetes: What Is Defined, What Is New, and What Is Unmet.
Spallone V
Diabetes Metab J 2019 Feb;43(1):3-30. doi: 10.4093/dmj.2018.0259. PMID: 30793549Free PMC Article
Cardiac Autonomic Neuropathy in Diabetes Mellitus.
Agashe S, Petak S
Methodist Debakey Cardiovasc J 2018 Oct-Dec;14(4):251-256. doi: 10.14797/mdcj-14-4-251. PMID: 30788010Free PMC Article
REM Sleep Behavior Disorder: Diagnosis, Clinical Implications, and Future Directions.
St Louis EK, Boeve BF
Mayo Clin Proc 2017 Nov;92(11):1723-1736. Epub 2017 Nov 1 doi: 10.1016/j.mayocp.2017.09.007. PMID: 29101940Free PMC Article

Clinical prediction guides

Timing of orthostatic hypotension and its relationship with falls in older adults.
Petriceks AH, Appel LJ, Miller ER 3rd, Mitchell CM, Schrack JA, Mukamal KJ, Lipsitz LA, Wanigatunga AA, Plante TB, Michos ED, Juraschek SP
J Am Geriatr Soc 2023 Dec;71(12):3711-3720. Epub 2023 Sep 5 doi: 10.1111/jgs.18573. PMID: 37668347Free PMC Article
Orthostatic Hypotension and Orthostatic Intolerance Symptoms in Geriatric Rehabilitation Inpatients, RESORT.
Christopoulos EM, Reijnierse EM, Lange PW, Meskers CGM, Maier AB
J Am Med Dir Assoc 2021 Dec;22(12):2468-2477.e2. Epub 2021 Sep 1 doi: 10.1016/j.jamda.2021.08.014. PMID: 34478695
Cardiac Autonomic Neuropathy in Diabetes Mellitus.
Agashe S, Petak S
Methodist Debakey Cardiovasc J 2018 Oct-Dec;14(4):251-256. doi: 10.14797/mdcj-14-4-251. PMID: 30788010Free PMC Article
New Horizons in orthostatic hypotension.
Frith J, Parry SW
Age Ageing 2017 Mar 1;46(2):168-174. doi: 10.1093/ageing/afw211. PMID: 27864240
Syncope: diagnosis and management.
Walsh K, Hoffmayer K, Hamdan MH
Curr Probl Cardiol 2015 Feb;40(2):51-86. Epub 2014 Nov 15 doi: 10.1016/j.cpcardiol.2014.11.001. PMID: 25686850

Recent systematic reviews

Orthostatic Hypotension, Hypertension Treatment, and Cardiovascular Disease: An Individual Participant Meta-Analysis.
Juraschek SP, Hu JR, Cluett JL, Ishak AM, Mita C, Lipsitz LA, Appel LJ, Beckett NS, Coleman RL, Cushman WC, Davis BR, Grandits G, Holman RR, Miller ER 3rd, Peters R, Staessen JA, Taylor AA, Thijs L, Wright JT Jr, Mukamal KJ
JAMA 2023 Oct 17;330(15):1459-1471. doi: 10.1001/jama.2023.18497. PMID: 37847274Free PMC Article
Orthostatic Hypotension and Antiparkinsonian Drugs: A Systematic Review and Meta-analysis.
Nimmons D, Bhanu C, Orlu M, Schrag A, Walters K
J Geriatr Psychiatry Neurol 2022 Sep;35(5):639-654. Epub 2021 Dec 29 doi: 10.1177/08919887211060017. PMID: 34964392Free PMC Article
Drug-induced orthostatic hypotension: A systematic review and meta-analysis of randomised controlled trials.
Bhanu C, Nimmons D, Petersen I, Orlu M, Davis D, Hussain H, Magammanage S, Walters K
PLoS Med 2021 Nov;18(11):e1003821. Epub 2021 Nov 9 doi: 10.1371/journal.pmed.1003821. PMID: 34752479Free PMC Article
Did This Patient Have Cardiac Syncope?: The Rational Clinical Examination Systematic Review.
Albassam OT, Redelmeier RJ, Shadowitz S, Husain AM, Simel D, Etchells EE
JAMA 2019 Jun 25;321(24):2448-2457. doi: 10.1001/jama.2019.8001. PMID: 31237649
Orthostatic Hypotension and Falls in Older Adults: A Systematic Review and Meta-analysis.
Mol A, Bui Hoang PTS, Sharmin S, Reijnierse EM, van Wezel RJA, Meskers CGM, Maier AB
J Am Med Dir Assoc 2019 May;20(5):589-597.e5. Epub 2018 Dec 21 doi: 10.1016/j.jamda.2018.11.003. PMID: 30583909

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...