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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

Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.
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
The debut of a rational treatment for an inherited neuropathy?
Scherer SS
J Clin Invest 2011 Dec;121(12):4624-7. doi: 10.1172/JCI60511. PMID: 22045569Free PMC Article
The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis.
Rozentsveig V, Katz A, Weksler N, Schwartz A, Schilly M, Klein M, Gurman GM
Paediatr Anaesth 2004 Apr;14(4):344-8. doi: 10.1046/j.1460-9592.2003.01235.x. PMID: 15078381

Recent clinical studies

Etiology

Association of variants in the KIF1A gene with amyotrophic lateral sclerosis.
Liao P, Yuan Y, Liu Z, Hou X, Li W, Wen J, Zhang K, Jiao B, Shen L, Jiang H, Guo J, Tang B, Zhang Z, Hu Z, Wang J
Transl Neurodegener 2022 Oct 26;11(1):46. doi: 10.1186/s40035-022-00320-2. PMID: 36284339Free PMC Article
Genetic pain loss disorders.
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
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
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
Hereditary sensory and autonomic neuropathy types IV and V in Japan.
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
Hereditary sensory neuropathies.
Houlden H, Blake J, Reilly MM
Curr Opin Neurol 2004 Oct;17(5):569-77. doi: 10.1097/00019052-200410000-00007. PMID: 15367861

Diagnosis

Autonomic failure: Clinicopathologic, physiologic, and genetic aspects.
Younger DS
Handb Clin Neurol 2023;195:55-102. doi: 10.1016/B978-0-323-98818-6.00020-0. PMID: 37562886
Genetic pain loss disorders.
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
Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.
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
Hereditary neuropathies: An update.
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
Hereditary sensory neuropathies.
Houlden H, Blake J, Reilly MM
Curr Opin Neurol 2004 Oct;17(5):569-77. doi: 10.1097/00019052-200410000-00007. PMID: 15367861

Therapy

AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.
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
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.
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
Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study.
Palma JA, Norcliffe-Kaufmann L, Perez MA, Spalink CL, Kaufmann H
Sleep 2017 Aug 1;40(8) doi: 10.1093/sleep/zsx083. PMID: 28521050Free PMC Article
Current treatments in familial dysautonomia.
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
Genetics of pain, opioids, and opioid responsiveness.
Tremblay J, Hamet P
Metabolism 2010 Oct;59 Suppl 1:S5-8. doi: 10.1016/j.metabol.2010.07.015. PMID: 20837195

Prognosis

Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Rochat J, Blavier A, Ruet S, Vasseur S, Puma A, Desnous B, Chan V, Delmont E, Attarian S, Juntas Morales R, Quadrio I, Vidoni L, Bonello-Palot N, Cheillan D
Genes (Basel) 2024 May 26;15(6) doi: 10.3390/genes15060692. PMID: 38927628Free PMC Article
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Khalaf-Nazzal R, Dweikat I, Ubeyratna N, Fasham J, Alawneh M, Leslie J, Maree M, Gunning A, Zayed DZ, Voutsina N, McGavin L, Sawafta R, Owens M, Baker W, Turnpenny P, Al-Hijawi F, Baple EL, Crosby AH, Rawlins LE
Am J Med Genet A 2024 Jul;194(7):e63579. Epub 2024 Mar 4 doi: 10.1002/ajmg.a.63579. PMID: 38436550
Orthopedic Manifestations of Hereditary Sensory and Autonomic Neuropathy IV in a 10-Year-Old Patient.
Kohler J, Metcalf R, Kowalski H
Iowa Orthop J 2023;43(1):95-99. PMID: 37383879Free PMC Article
Pregnancy in hereditary sensory and autonomic neuropathy type V: A case report and literature review.
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
Mitochondrial dynamics and inherited peripheral nerve diseases.
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

Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Rochat J, Blavier A, Ruet S, Vasseur S, Puma A, Desnous B, Chan V, Delmont E, Attarian S, Juntas Morales R, Quadrio I, Vidoni L, Bonello-Palot N, Cheillan D
Genes (Basel) 2024 May 26;15(6) doi: 10.3390/genes15060692. PMID: 38927628Free PMC Article
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Khalaf-Nazzal R, Dweikat I, Ubeyratna N, Fasham J, Alawneh M, Leslie J, Maree M, Gunning A, Zayed DZ, Voutsina N, McGavin L, Sawafta R, Owens M, Baker W, Turnpenny P, Al-Hijawi F, Baple EL, Crosby AH, Rawlins LE
Am J Med Genet A 2024 Jul;194(7):e63579. Epub 2024 Mar 4 doi: 10.1002/ajmg.a.63579. PMID: 38436550
Expression pattern analysis and characterization of the hereditary sensory and autonomic neuropathy 2 A (HSAN2A) gene with no lysine kinase (WNK1) in human dorsal root ganglion.
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
A new prion disease: relationship with central and peripheral amyloidoses.
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
Natural history and biomarkers in hereditary sensory neuropathy type 1.
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

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
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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