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Hereditary sensory and autonomic neuropathy

MedGen UID:
14355
Concept ID:
C0027889
Disease or Syndrome
Synonyms: Hereditary Sensory and Autonomic Neuropathies; HSAN; HSAN (Hereditary Sensory Autonomic Neuropathy); HSANs (Hereditary Sensory Autonomic Neuropathy); Neuropathies, Hereditary Sensory and Autonomic; Sensory and Autonomic Neuropathies, Hereditary
SNOMED CT: Hereditary sensory and autonomic neuropathy (128205005); HSAN - hereditary sensory and autonomic neuropathy (128205005)
 
Monarch Initiative: MONDO:0015364
OMIM® Phenotypic series: PS162400
Orphanet: ORPHA140471

Definition

An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary sensory and autonomic neuropathy
Follow this link to review classifications for Hereditary sensory and autonomic neuropathy in Orphanet.

Professional guidelines

PubMed

Xie Y, Lin Z, Liu L, Li X, Huang S, Zhao H, Wang B, Zeng S, Cao W, Li L, Zhu X, Huang S, Yang H, Wang M, Hu Z, Wang J, Guo J, Shen L, Jiang H, Zuchner S, Tang B, Zhang R
Eur J Neurol 2021 Nov;28(11):3774-3783. Epub 2021 Jul 26 doi: 10.1111/ene.15024. PMID: 34255403
Scherer SS
J Clin Invest 2011 Dec;121(12):4624-7. doi: 10.1172/JCI60511. PMID: 22045569Free PMC Article
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Paediatr Anaesth 2004 Apr;14(4):344-8. doi: 10.1046/j.1460-9592.2003.01235.x. PMID: 15078381

Recent clinical studies

Etiology

Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I
Nat Rev Dis Primers 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. PMID: 35710757
Suthar R, Sharawat IK, Eggermann K, Padmanabha H, Saini AG, Bharti B, Kurth I, Singhi P, Sankhyan N
Neurol India 2022 Jan-Feb;70(1):231-237. doi: 10.4103/0028-3886.338691. PMID: 35263888
Gantner ML, Eade K, Wallace M, Handzlik MK, Fallon R, Trombley J, Bonelli R, Giles S, Harkins-Perry S, Heeren TFC, Sauer L, Ideguchi Y, Baldini M, Scheppke L, Dorrell MI, Kitano M, Hart BJ, Cai C, Nagasaki T, Badur MG, Okada M, Woods SM, Egan C, Gillies M, Guymer R, Eichler F, Bahlo M, Fruttiger M, Allikmets R, Bernstein PS, Metallo CM, Friedlander M
N Engl J Med 2019 Oct 10;381(15):1422-1433. Epub 2019 Sep 11 doi: 10.1056/NEJMoa1815111. PMID: 31509666Free PMC Article
Haga N, Kubota M, Miwa Z; Japanese Research Group on Congenital Insensitivity to Pain
Pediatr Int 2015;57(1):30-6. doi: 10.1111/ped.12538. PMID: 25422087
Houlden H, Blake J, Reilly MM
Curr Opin Neurol 2004 Oct;17(5):569-77. doi: 10.1097/00019052-200410000-00007. PMID: 15367861

Diagnosis

Younger DS
Handb Clin Neurol 2023;195:55-102. doi: 10.1016/B978-0-323-98818-6.00020-0. PMID: 37562886
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I
Nat Rev Dis Primers 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. PMID: 35710757
Suthar R, Sharawat IK, Eggermann K, Padmanabha H, Saini AG, Bharti B, Kurth I, Singhi P, Sankhyan N
Neurol India 2022 Jan-Feb;70(1):231-237. doi: 10.4103/0028-3886.338691. PMID: 35263888
Stojkovic T
Rev Neurol (Paris) 2016 Dec;172(12):775-778. Epub 2016 Nov 17 doi: 10.1016/j.neurol.2016.06.007. PMID: 27866730
Houlden H, Blake J, Reilly MM
Curr Opin Neurol 2004 Oct;17(5):569-77. doi: 10.1097/00019052-200410000-00007. PMID: 15367861

Therapy

Yang H, Brown RH Jr, Wang D, Strauss KA, Gao G
Trends Mol Med 2021 Jun;27(6):520-523. Epub 2021 Mar 10 doi: 10.1016/j.molmed.2021.02.004. PMID: 33714697Free PMC Article
Fridman V, Suriyanarayanan S, Novak P, David W, Macklin EA, McKenna-Yasek D, Walsh K, Aziz-Bose R, Oaklander AL, Brown R, Hornemann T, Eichler F
Neurology 2019 Jan 22;92(4):e359-e370. Epub 2019 Jan 9 doi: 10.1212/WNL.0000000000006811. PMID: 30626650Free PMC Article
Palma JA, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H
Expert Opin Pharmacother 2014 Dec;15(18):2653-71. Epub 2014 Oct 17 doi: 10.1517/14656566.2014.970530. PMID: 25323828Free PMC Article
Tremblay J, Hamet P
Metabolism 2010 Oct;59 Suppl 1:S5-8. doi: 10.1016/j.metabol.2010.07.015. PMID: 20837195
Amano A, Akiyama S, Ikeda M, Morisaki I
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1998 Oct;86(4):425-31. doi: 10.1016/s1079-2104(98)90368-7. PMID: 9798226

Prognosis

Kohler J, Metcalf R, Kowalski H
Iowa Orthop J 2023;43(1):95-99. PMID: 37383879Free PMC Article
Higeta D, Morita A, Uehara R, Inoue M, Kameda T, Iwase A
Taiwan J Obstet Gynecol 2022 Jan;61(1):115-117. doi: 10.1016/j.tjog.2021.11.019. PMID: 35181018
Fridman V, Suriyanarayanan S, Novak P, David W, Macklin EA, McKenna-Yasek D, Walsh K, Aziz-Bose R, Oaklander AL, Brown R, Hornemann T, Eichler F
Neurology 2019 Jan 22;92(4):e359-e370. Epub 2019 Jan 9 doi: 10.1212/WNL.0000000000006811. PMID: 30626650Free PMC Article
Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, Ylikallio E
Neuromolecular Med 2016 Mar;18(1):81-90. Epub 2015 Nov 16 doi: 10.1007/s12017-015-8379-1. PMID: 26573920
Pareyson D, Saveri P, Sagnelli A, Piscosquito G
Neurosci Lett 2015 Jun 2;596:66-77. Epub 2015 Apr 3 doi: 10.1016/j.neulet.2015.04.001. PMID: 25847151

Clinical prediction guides

Sapio MR, King DM, Staedtler ES, Maric D, Jahanipour J, Kurochkina NA, Manalo AP, Ghetti A, Mannes AJ, Iadarola MJ
Exp Neurol 2023 Dec;370:114552. Epub 2023 Oct 2 doi: 10.1016/j.expneurol.2023.114552. PMID: 37793538
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B
Genes (Basel) 2023 Apr 25;14(5) doi: 10.3390/genes14050972. PMID: 37239332Free PMC Article
Cui M, Ying R, Jiang X, Li G, Zhang X, Zheng J, Tam KY, Liang B, Shi A, Göbel V, Zhang H
J Neurosci 2019 Jul 17;39(29):5816-5834. Epub 2019 May 28 doi: 10.1523/JNEUROSCI.2541-18.2019. PMID: 31138658Free PMC Article
Mead S, Reilly MM
Nat Rev Neurol 2015 Feb;11(2):90-7. Epub 2015 Jan 27 doi: 10.1038/nrneurol.2014.263. PMID: 25623792
Fridman V, Oaklander AL, David WS, Johnson EA, Pan J, Novak P, Brown RH Jr, Eichler FS
Muscle Nerve 2015 Apr;51(4):489-95. Epub 2015 Feb 11 doi: 10.1002/mus.24336. PMID: 25042817Free PMC Article

Recent systematic reviews

Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D
Hum Mutat 2021 Jun;42(6):762-776. Epub 2021 May 11 doi: 10.1002/humu.24206. PMID: 33847017

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