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Decreased sensitivity to hypoxemia

MedGen UID:
812616
Concept ID:
C3806286
Finding
Synonym: Decreased sensitivity to hypoxaemia
 
HPO: HP:0005947

Definition

Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased sensitivity to hypoxemia

Conditions with this feature

Familial dysautonomia
MedGen UID:
41678
Concept ID:
C0013364
Disease or Syndrome
Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vomiting attacks), recurrent pneumonia, altered pain sensitivity, altered temperature perception, and blood pressure instability. Hypotonia contributes to delay in acquisition of motor milestones. Optic neuropathy results in progressive vision loss. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Developmental delay / intellectual disability occur in about 21% of individuals. Life expectancy is decreased.

Professional guidelines

PubMed

Feng SW, Chang PC, Chen HY, Hueng DY, Li YF, Huang SM
Int J Mol Sci 2022 Jul 25;23(15) doi: 10.3390/ijms23158171. PMID: 35897747Free PMC Article
Badulak JH, Schurr M, Sauaia A, Ivashchenko A, Peltz E
Burns 2018 May;44(3):531-538. Epub 2018 Mar 13 doi: 10.1016/j.burns.2018.02.016. PMID: 29548862
Brinkmann C, Bloch W, Brixius K
Scand J Med Sci Sports 2018 Feb;28(2):549-564. Epub 2017 Jul 26 doi: 10.1111/sms.12937. PMID: 28649714

Recent clinical studies

Etiology

Deng C, Deng G, Chu H, Chen S, Chen X, Li X, He Y, Sun C, Zhang C
Front Immunol 2023;14:1140328. Epub 2023 Apr 26 doi: 10.3389/fimmu.2023.1140328. PMID: 37180146Free PMC Article
Ge RL, Simonson TS, Gordeuk V, Prchal JT, McClain DA
Exp Physiol 2015 Nov;100(11):1247-55. Epub 2015 Jul 14 doi: 10.1113/EP085292. PMID: 26053282Free PMC Article
Wang X, Fang X, Wang F
Rev Endocr Metab Disord 2015 Mar;16(1):15-23. doi: 10.1007/s11154-014-9303-y. PMID: 25520048
Klöting N, Blüher M
Rev Endocr Metab Disord 2014 Dec;15(4):277-87. doi: 10.1007/s11154-014-9301-0. PMID: 25344447
Vinik AI, Erbas T
Handb Clin Neurol 2013;117:279-94. doi: 10.1016/B978-0-444-53491-0.00022-5. PMID: 24095132

Diagnosis

Deng C, Deng G, Chu H, Chen S, Chen X, Li X, He Y, Sun C, Zhang C
Front Immunol 2023;14:1140328. Epub 2023 Apr 26 doi: 10.3389/fimmu.2023.1140328. PMID: 37180146Free PMC Article
Fuhrmann DC, Mondorf A, Beifuß J, Jung M, Brüne B
Redox Biol 2020 Sep;36:101670. Epub 2020 Aug 3 doi: 10.1016/j.redox.2020.101670. PMID: 32810738Free PMC Article
Vjotosh AN
Biochemistry (Mosc) 2020 Jan;85(1):40-53. doi: 10.1134/S0006297920010046. PMID: 32079516
Shah SN, Bachur RG, Simel DL, Neuman MI
JAMA 2017 Aug 1;318(5):462-471. doi: 10.1001/jama.2017.9039. PMID: 28763554
Janssens JP, Pache JC, Nicod LP
Eur Respir J 1999 Jan;13(1):197-205. doi: 10.1034/j.1399-3003.1999.13a36.x. PMID: 10836348

Therapy

Buelow DR, Bhatnagar B, Orwick SJ, Jeon JY, Eisenmann ED, Stromatt JC, Pabla NS, Blachly JS, Baker SD, Blaser BW
Blood Adv 2022 Sep 13;6(17):5049-5060. doi: 10.1182/bloodadvances.2022007952. PMID: 35797240Free PMC Article
van der Wiel AMA, Jackson-Patel V, Niemans R, Yaromina A, Liu E, Marcus D, Mowday AM, Lieuwes NG, Biemans R, Lin X, Fu Z, Kumara S, Jochems A, Ashoorzadeh A, Anderson RF, Hicks KO, Bull MR, Abbattista MR, Guise CP, Deschoemaeker S, Thiolloy S, Heyerick A, Solivio MJ, Balbo S, Smaill JB, Theys J, Dubois LJ, Patterson AV, Lambin P
Mol Cancer Ther 2021 Dec;20(12):2372-2383. Epub 2021 Oct 8 doi: 10.1158/1535-7163.MCT-21-0406. PMID: 34625504Free PMC Article
Lam KK, Kunder S, Wong J, Doufas AG, Chung F
Curr Opin Anaesthesiol 2016 Feb;29(1):134-40. doi: 10.1097/ACO.0000000000000265. PMID: 26545144Free PMC Article
Harrison L, Blackwell K
Oncologist 2004;9 Suppl 5:31-40. doi: 10.1634/theoncologist.9-90005-31. PMID: 15591420
Thébaud B, Arnal JF, Mercier JC, Dinh-Xuan AT
Cell Mol Life Sci 1999 Jul;55(8-9):1103-12. doi: 10.1007/s000180050360. PMID: 10442091Free PMC Article

Prognosis

Deng C, Deng G, Chu H, Chen S, Chen X, Li X, He Y, Sun C, Zhang C
Front Immunol 2023;14:1140328. Epub 2023 Apr 26 doi: 10.3389/fimmu.2023.1140328. PMID: 37180146Free PMC Article
Klöting N, Blüher M
Rev Endocr Metab Disord 2014 Dec;15(4):277-87. doi: 10.1007/s11154-014-9301-0. PMID: 25344447
Vinik AI, Erbas T
Handb Clin Neurol 2013;117:279-94. doi: 10.1016/B978-0-444-53491-0.00022-5. PMID: 24095132
Patel NM, Lederer DJ, Borczuk AC, Kawut SM
Chest 2007 Sep;132(3):998-1006. doi: 10.1378/chest.06-3087. PMID: 17873194
Harrison L, Blackwell K
Oncologist 2004;9 Suppl 5:31-40. doi: 10.1634/theoncologist.9-90005-31. PMID: 15591420

Clinical prediction guides

Deng C, Deng G, Chu H, Chen S, Chen X, Li X, He Y, Sun C, Zhang C
Front Immunol 2023;14:1140328. Epub 2023 Apr 26 doi: 10.3389/fimmu.2023.1140328. PMID: 37180146Free PMC Article
Gekeler K, Schatz A, Fischer MD, Schommer K, Boden K, Bartz-Schmidt KU, Gekeler F, Willmann G
Br J Ophthalmol 2019 Dec;103(12):1815-1819. Epub 2019 Feb 15 doi: 10.1136/bjophthalmol-2018-313260. PMID: 30770358
Danin PE, Siegenthaler N, Levraut J, Bernardin G, Dellamonica J, Bendjelid K
J Clin Monit Comput 2015 Oct;29(5):591-600. Epub 2014 Nov 13 doi: 10.1007/s10877-014-9638-7. PMID: 25391599
Klöting N, Blüher M
Rev Endocr Metab Disord 2014 Dec;15(4):277-87. doi: 10.1007/s11154-014-9301-0. PMID: 25344447
Vinik AI, Erbas T
Handb Clin Neurol 2013;117:279-94. doi: 10.1016/B978-0-444-53491-0.00022-5. PMID: 24095132

Recent systematic reviews

Kindlovits R, Pereira AMDS, Sousa AC, Viana JL, Teixeira VH
High Alt Med Biol 2022 Dec;23(4):301-312. Epub 2022 Aug 24 doi: 10.1089/ham.2022.0029. PMID: 36036723
Wang J, Wang Y, Wang T, Xing X, Zhang G
Heart Lung Circ 2021 May;30(5):631-641. Epub 2020 Nov 4 doi: 10.1016/j.hlc.2020.10.014. PMID: 33277180Free PMC Article
Lopez Soto C, Dragoi L, Heyn CC, Kramer A, Pinto R, Adhikari NKJ, Scales DC
Neurocrit Care 2020 Feb;32(1):206-216. doi: 10.1007/s12028-019-00842-0. PMID: 31549351
Shah SN, Bachur RG, Simel DL, Neuman MI
JAMA 2017 Aug 1;318(5):462-471. doi: 10.1001/jama.2017.9039. PMID: 28763554
Ekström M, Ahmadi Z, Bornefalk-Hermansson A, Abernethy A, Currow D
Cochrane Database Syst Rev 2016 Nov 25;11(11):CD006429. doi: 10.1002/14651858.CD006429.pub3. PMID: 27886372Free PMC Article

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