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Aplasia of the olfactory tract

MedGen UID:
1696405
•Concept ID:
C5209227
•
Congenital Abnormality
HPO: HP:0020128

Definition

Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia of the olfactory tract

Professional guidelines

PubMed

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):417-430. Epub 2017 Nov 27 doi: 10.1002/ajmg.c.31591. PMID: 29178447
Early treatment of Kallmann syndrome may prevent eunuchoid appearance and behavior.
Castañeyra-Perdomo A, Castañeyra-Ruiz L, González-Marrero I, Castañeyra-Ruiz A, Gonzalez-Toledo JM, Castañeyra-Ruiz M, Carmona-Calero EM
Med Hypotheses 2014 Jan;82(1):74-6. Epub 2013 Nov 16 doi: 10.1016/j.mehy.2013.11.011. PMID: 24296236
Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes: pathophysiology and genotype-phenotype correlations.
Sarfati J, Dodé C, Young J
Front Horm Res 2010;39:121-132. Epub 2010 Apr 8 doi: 10.1159/000312698. PMID: 20389090

Recent clinical studies

Etiology

Cognitive and functional connectivity impairment in post-COVID-19 olfactory dysfunction.
Muccioli L, Sighinolfi G, Mitolo M, Ferri L, Jane Rochat M, Pensato U, Taruffi L, Testa C, Masullo M, Cortelli P, Lodi R, Liguori R, Tonon C, Bisulli F
Neuroimage Clin 2023;38:103410. Epub 2023 Apr 17 doi: 10.1016/j.nicl.2023.103410. PMID: 37104928Free PMC Article
Reduced olfactory bulb volume and olfactory sulcus depth in obsessive compulsive disorder.
Kapici OB, Kapici Y, Tekin A
Psychiatry Res Neuroimaging 2023 Jul;332:111644. Epub 2023 Apr 10 doi: 10.1016/j.pscychresns.2023.111644. PMID: 37087810
The diagnostic value of the olfactory evaluation for congenital hypogonadotropic hypogonadism.
Yu B, Chen K, Mao J, Hou B, You H, Wang X, Nie M, Huang Q, Zhang R, Zhu Y, Sun B, Feng F, Zhou W, Wu X
Front Endocrinol (Lausanne) 2022;13:909623. Epub 2022 Sep 16 doi: 10.3389/fendo.2022.909623. PMID: 36187095Free PMC Article
Transient modifications of the olfactory bulb on MR follow-up of COVID-19 patients with related olfactory dysfunction.
Ammar A, Distinguin L, Chetrit A, Safa D, Hans S, Carlier R, Lechien JR, Edjlali M
J Neuroradiol 2022 Jun;49(4):329-332. Epub 2022 Mar 17 doi: 10.1016/j.neurad.2022.03.003. PMID: 35306004Free PMC Article
Structural anomalies of the peripheral olfactory system in psychosis high-risk subjects.
Turetsky BI, Moberg PJ, Quarmley M, Dress E, Calkins ME, Ruparel K, Prabhakaran K, Gur RE, Roalf DR
Schizophr Res 2018 May;195:197-205. Epub 2017 Sep 30 doi: 10.1016/j.schres.2017.09.015. PMID: 28974405Free PMC Article

Diagnosis

The diagnostic value of the olfactory evaluation for congenital hypogonadotropic hypogonadism.
Yu B, Chen K, Mao J, Hou B, You H, Wang X, Nie M, Huang Q, Zhang R, Zhu Y, Sun B, Feng F, Zhou W, Wu X
Front Endocrinol (Lausanne) 2022;13:909623. Epub 2022 Sep 16 doi: 10.3389/fendo.2022.909623. PMID: 36187095Free PMC Article
Olfactory Development, Part 1: Function, From Fetal Perception to Adult Wine-Tasting.
Sarnat HB, Flores-Sarnat L, Wei XC
J Child Neurol 2017 May;32(6):566-578. Epub 2017 Feb 19 doi: 10.1177/0883073817690867. PMID: 28424010
Olfaction and Aging: A Mini-Review.
Attems J, Walker L, Jellinger KA
Gerontology 2015;61(6):485-90. Epub 2015 May 9 doi: 10.1159/000381619. PMID: 25968962
Persistent primitive olfactory artery: CT angiographic diagnosis and literature review for classification and clinical significance.
Kim MS, Lee GJ
Surg Radiol Anat 2014 Sep;36(7):663-7. Epub 2013 Nov 23 doi: 10.1007/s00276-013-1239-5. PMID: 24271941
The olfactory system.
Leboucq N, Menjot de Champfleur N, Menjot de Champfleur S, Bonafé A
Diagn Interv Imaging 2013 Oct;94(10):985-91. Epub 2013 Aug 7 doi: 10.1016/j.diii.2013.06.006. PMID: 23932763

Therapy

Effects of prenatal alcohol exposure on the olfactory system development.
Imamura F
Front Neural Circuits 2024;18:1408187. Epub 2024 May 15 doi: 10.3389/fncir.2024.1408187. PMID: 38818309Free PMC Article
Neuroradiological Basis of COVID-19 Olfactory Dysfunction: A Systematic Review and Meta-Analysis.
Tan CJ, Tan BKJ, Tan XY, Liu HT, Teo CB, See A, Xu S, Toh ST, Kheok SW, Charn TC, Teo NWY
Laryngoscope 2022 Jun;132(6):1260-1274. Epub 2022 Mar 22 doi: 10.1002/lary.30078. PMID: 35318656Free PMC Article
Transient modifications of the olfactory bulb on MR follow-up of COVID-19 patients with related olfactory dysfunction.
Ammar A, Distinguin L, Chetrit A, Safa D, Hans S, Carlier R, Lechien JR, Edjlali M
J Neuroradiol 2022 Jun;49(4):329-332. Epub 2022 Mar 17 doi: 10.1016/j.neurad.2022.03.003. PMID: 35306004Free PMC Article
Rhythm and mood: relationships between the circadian clock and mood-related behavior.
Schnell A, Albrecht U, Sandrelli F
Behav Neurosci 2014 Jun;128(3):326-43. Epub 2014 Mar 24 doi: 10.1037/a0035883. PMID: 24660658
The olfactory bulbectomised rat as a model of depression.
Song C, Leonard BE
Neurosci Biobehav Rev 2005;29(4-5):627-47. Epub 2005 Apr 25 doi: 10.1016/j.neubiorev.2005.03.010. PMID: 15925697

Prognosis

Neuroradiological Basis of COVID-19 Olfactory Dysfunction: A Systematic Review and Meta-Analysis.
Tan CJ, Tan BKJ, Tan XY, Liu HT, Teo CB, See A, Xu S, Toh ST, Kheok SW, Charn TC, Teo NWY
Laryngoscope 2022 Jun;132(6):1260-1274. Epub 2022 Mar 22 doi: 10.1002/lary.30078. PMID: 35318656Free PMC Article
Transient modifications of the olfactory bulb on MR follow-up of COVID-19 patients with related olfactory dysfunction.
Ammar A, Distinguin L, Chetrit A, Safa D, Hans S, Carlier R, Lechien JR, Edjlali M
J Neuroradiol 2022 Jun;49(4):329-332. Epub 2022 Mar 17 doi: 10.1016/j.neurad.2022.03.003. PMID: 35306004Free PMC Article
What substance P might tell us about the prognosis and mechanism of Parkinson's disease?
Tirassa P, Schirinzi T, Raspa M, Ralli M, Greco A, Polimeni A, Possenti R, Mercuri NB, Severini C
Neurosci Biobehav Rev 2021 Dec;131:899-911. Epub 2021 Oct 12 doi: 10.1016/j.neubiorev.2021.10.008. PMID: 34653503
Structural anomalies of the peripheral olfactory system in psychosis high-risk subjects.
Turetsky BI, Moberg PJ, Quarmley M, Dress E, Calkins ME, Ruparel K, Prabhakaran K, Gur RE, Roalf DR
Schizophr Res 2018 May;195:197-205. Epub 2017 Sep 30 doi: 10.1016/j.schres.2017.09.015. PMID: 28974405Free PMC Article
Persistent primitive olfactory artery: CT angiographic diagnosis and literature review for classification and clinical significance.
Kim MS, Lee GJ
Surg Radiol Anat 2014 Sep;36(7):663-7. Epub 2013 Nov 23 doi: 10.1007/s00276-013-1239-5. PMID: 24271941

Clinical prediction guides

The immunology of long COVID.
Altmann DM, Whettlock EM, Liu S, Arachchillage DJ, Boyton RJ
Nat Rev Immunol 2023 Oct;23(10):618-634. Epub 2023 Jul 11 doi: 10.1038/s41577-023-00904-7. PMID: 37433988
Deep Phenotyping of Neurologic Postacute Sequelae of SARS-CoV-2 Infection.
Mina Y, Enose-Akahata Y, Hammoud DA, Videckis AJ, Narpala SR, O'Connell SE, Carroll R, Lin BC, McMahan CC, Nair G, Reoma LB, McDermott AB, Walitt B, Jacobson S, Goldstein DS, Smith BR, Nath A
Neurol Neuroimmunol Neuroinflamm 2023 Jul;10(4) Epub 2023 May 5 doi: 10.1212/NXI.0000000000200097. PMID: 37147136Free PMC Article
Reduced olfactory bulb volume and olfactory sulcus depth in obsessive compulsive disorder.
Kapici OB, Kapici Y, Tekin A
Psychiatry Res Neuroimaging 2023 Jul;332:111644. Epub 2023 Apr 10 doi: 10.1016/j.pscychresns.2023.111644. PMID: 37087810
Neuroradiological Basis of COVID-19 Olfactory Dysfunction: A Systematic Review and Meta-Analysis.
Tan CJ, Tan BKJ, Tan XY, Liu HT, Teo CB, See A, Xu S, Toh ST, Kheok SW, Charn TC, Teo NWY
Laryngoscope 2022 Jun;132(6):1260-1274. Epub 2022 Mar 22 doi: 10.1002/lary.30078. PMID: 35318656Free PMC Article
What substance P might tell us about the prognosis and mechanism of Parkinson's disease?
Tirassa P, Schirinzi T, Raspa M, Ralli M, Greco A, Polimeni A, Possenti R, Mercuri NB, Severini C
Neurosci Biobehav Rev 2021 Dec;131:899-911. Epub 2021 Oct 12 doi: 10.1016/j.neubiorev.2021.10.008. PMID: 34653503

Recent systematic reviews

Neuroradiological Basis of COVID-19 Olfactory Dysfunction: A Systematic Review and Meta-Analysis.
Tan CJ, Tan BKJ, Tan XY, Liu HT, Teo CB, See A, Xu S, Toh ST, Kheok SW, Charn TC, Teo NWY
Laryngoscope 2022 Jun;132(6):1260-1274. Epub 2022 Mar 22 doi: 10.1002/lary.30078. PMID: 35318656Free PMC Article
Neuroimaging Findings in Patients with COVID-19: A Systematic Review and Meta-Analysis.
Kim PH, Kim M, Suh CH, Chung SR, Park JE, Kim SC, Choi YJ, Lee JH, Kim HS, Baek JH, Choi CG, Kim SJ
Korean J Radiol 2021 Nov;22(11):1875-1885. Epub 2021 Jul 1 doi: 10.3348/kjr.2021.0127. PMID: 34269530Free PMC Article
Neuroradiological Features of Mild and Severe SARS-CoV-2 Infection.
Pan S, Chen WC, Baal JD, Sugrue LP
Acad Radiol 2020 Nov;27(11):1507-1514. Epub 2020 Aug 29 doi: 10.1016/j.acra.2020.08.026. PMID: 32912668Free PMC Article
Retronasal Olfaction Test Methods: A Systematic Review.
Özay H, Çakır A, Ecevit MC
Balkan Med J 2019 Jan 1;36(1):49-59. Epub 2018 Sep 28 doi: 10.4274/balkanmedj.2018.0052. PMID: 30264731Free PMC Article

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