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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

Xu F, Wu S, Gao S, Li X, Huang C, Chen Y, Zhu P, Liu G
J Neurochem 2025 Feb;169(2):e16254. Epub 2024 Oct 31 doi: 10.1111/jnc.16254. PMID: 39479764
Wang T, Peng X, Liu W, Ji M, Sun J
Life Sci 2024 Mar 15;341:122490. Epub 2024 Feb 7 doi: 10.1016/j.lfs.2024.122490. PMID: 38336274
Gilani A, Stoll L, Homan EA, Lo JC
Diabetes 2024 Feb 1;73(2):169-177. doi: 10.2337/dbi23-0005. PMID: 38241508Free PMC Article
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
Vinik AI, Erbas T
Handb Clin Neurol 2013;117:279-94. doi: 10.1016/B978-0-444-53491-0.00022-5. PMID: 24095132

Diagnosis

Zhang Q, Wei T, Jin W, Yan L, Shi L, Zhu S, Bai Y, Zeng Y, Yin Z, Yang J, Zhang W, Wu M, Zhang Y, Peng G, Roessler S, Liu L
J Hepatol 2024 Feb;80(2):293-308. Epub 2023 Oct 30 doi: 10.1016/j.jhep.2023.10.024. PMID: 38450598
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
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

Xu F, Wu S, Gao S, Li X, Huang C, Chen Y, Zhu P, Liu G
J Neurochem 2025 Feb;169(2):e16254. Epub 2024 Oct 31 doi: 10.1111/jnc.16254. PMID: 39479764
Leavitt RJ, Almeida A, Grilj V, Montay-Gruel P, Godfroid C, Petit B, Bailat C, Limoli CL, Vozenin MC
Int J Radiat Oncol Biol Phys 2024 Aug 1;119(5):1493-1505. Epub 2024 Feb 20 doi: 10.1016/j.ijrobp.2024.02.015. PMID: 38387809
Hong SE, Jin HO, Kim HA, Seong MK, Kim EK, Ye SK, Choe TB, Lee JK, Kim JI, Park IC, Noh WC
Biochem Biophys Res Commun 2016 Jan 8;469(2):164-70. Epub 2015 Nov 23 doi: 10.1016/j.bbrc.2015.11.088. PMID: 26616058
Tóvári J, Pirker R, Tímár J, Ostoros G, Kovács G, Döme B
Curr Mol Med 2008 Sep;8(6):481-91. doi: 10.2174/156652408785747979. PMID: 18781955
Harrison L, Blackwell K
Oncologist 2004;9 Suppl 5:31-40. doi: 10.1634/theoncologist.9-90005-31. PMID: 15591420

Prognosis

Zhang G, Xiao Y, Tan J, Liu H, Fan W, Li J
J Transl Med 2024 Jun 6;22(1):543. doi: 10.1186/s12967-024-05298-1. PMID: 38844930Free PMC Article
Zhang Q, Wei T, Jin W, Yan L, Shi L, Zhu S, Bai Y, Zeng Y, Yin Z, Yang J, Zhang W, Wu M, Zhang Y, Peng G, Roessler S, Liu L
J Hepatol 2024 Feb;80(2):293-308. Epub 2023 Oct 30 doi: 10.1016/j.jhep.2023.10.024. PMID: 38450598
Wang T, Peng X, Liu W, Ji M, Sun J
Life Sci 2024 Mar 15;341:122490. Epub 2024 Feb 7 doi: 10.1016/j.lfs.2024.122490. PMID: 38336274
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
Vinik AI, Erbas T
Handb Clin Neurol 2013;117:279-94. doi: 10.1016/B978-0-444-53491-0.00022-5. PMID: 24095132

Clinical prediction guides

Xu F, Wu S, Gao S, Li X, Huang C, Chen Y, Zhu P, Liu G
J Neurochem 2025 Feb;169(2):e16254. Epub 2024 Oct 31 doi: 10.1111/jnc.16254. PMID: 39479764
Zhang Q, Wei T, Jin W, Yan L, Shi L, Zhu S, Bai Y, Zeng Y, Yin Z, Yang J, Zhang W, Wu M, Zhang Y, Peng G, Roessler S, Liu L
J Hepatol 2024 Feb;80(2):293-308. Epub 2023 Oct 30 doi: 10.1016/j.jhep.2023.10.024. PMID: 38450598
Wang T, Peng X, Liu W, Ji M, Sun J
Life Sci 2024 Mar 15;341:122490. Epub 2024 Feb 7 doi: 10.1016/j.lfs.2024.122490. PMID: 38336274
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
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
Zhang Y, Wang W, Yang C, Shen J, Shi M, Wang B
Obes Surg 2019 Feb;29(2):601-608. doi: 10.1007/s11695-018-3573-5. PMID: 30411226
Shah SN, Bachur RG, Simel DL, Neuman MI
JAMA 2017 Aug 1;318(5):462-471. doi: 10.1001/jama.2017.9039. PMID: 28763554

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