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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

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
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
Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies.
Roshandel D, Semnani F, Rayati Damavandi A, Masoudi A, Baradaran-Rafii A, Watson SL, Morgan WH, McLenachan S
Ocul Surf 2023 Jul;29:150-165. Epub 2023 May 14 doi: 10.1016/j.jtos.2023.05.003. PMID: 37192706
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
A review of the oro-dento-facial characteristics of hereditary sensory and autonomic neuropathy type III (familial dysautonomia).
Mass E
Spec Care Dentist 2012 Jan-Feb;32(1):15-20. doi: 10.1111/j.1754-4505.2011.00225.x. PMID: 22229594

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 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
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
Phosphoregulation of the Na-K-2Cl and K-Cl cotransporters by the WNK kinases.
Kahle KT, Rinehart J, Lifton RP
Biochim Biophys Acta 2010 Dec;1802(12):1150-8. Epub 2010 Jul 15 doi: 10.1016/j.bbadis.2010.07.009. PMID: 20637866Free PMC Article

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
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
Genetic mutations that prevent pain: implications for future pain medication.
Oertel B, Lötsch J
Pharmacogenomics 2008 Feb;9(2):179-94. doi: 10.2217/14622416.9.2.179. PMID: 18370847

Prognosis

Impact of the coronavirus pandemic on families of patients with congenital insensitivity to pain with anhidrosis.
Kubota M, Haga N
Pediatr Int 2023 Jan;65(1):e15415. doi: 10.1111/ped.15415. PMID: 36371639Free PMC Article
Plantar Ulcers and Neuropathic Arthropathies: Associated Diseases, Polyneuropathy Correlates, and Risk Covariates.
Andrews KL, Dyck PJ, Kavros SJ, Vella A, Kazamel M, Clark V, Litchy WJ, Dyck PJB, Lodermeier KA, Davies JL, Carter RE, Klein CJ
Adv Skin Wound Care 2019 Apr;32(4):168-175. doi: 10.1097/01.ASW.0000550591.08674.98. PMID: 30624254
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
Bode H, Bourquin F, Suriyanarayanan S, Wei Y, Alecu I, Othman A, Von Eckardstein A, Hornemann T
Hum Mol Genet 2016 Mar 1;25(5):853-65. Epub 2015 Dec 17 doi: 10.1093/hmg/ddv611. PMID: 26681808
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
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

Clinical prediction guides

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
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
Population Study of Hand and Wrist Manifestations of Congenital Insensitivity to Pain.
Spiteri M, Mifsud M, Azzopardi T, Giele H
Hand (N Y) 2022 Jan;17(1):155-161. Epub 2020 Mar 6 doi: 10.1177/1558944720906556. PMID: 32141314Free PMC Article
Understanding pain perception through genetic painlessness diseases: The role of NGF and proNGF.
Testa G, Cattaneo A, Capsoni S
Pharmacol Res 2021 Jul;169:105662. Epub 2021 May 15 doi: 10.1016/j.phrs.2021.105662. PMID: 34000361
Plantar Ulcers and Neuropathic Arthropathies: Associated Diseases, Polyneuropathy Correlates, and Risk Covariates.
Andrews KL, Dyck PJ, Kavros SJ, Vella A, Kazamel M, Clark V, Litchy WJ, Dyck PJB, Lodermeier KA, Davies JL, Carter RE, Klein CJ
Adv Skin Wound Care 2019 Apr;32(4):168-175. doi: 10.1097/01.ASW.0000550591.08674.98. PMID: 30624254
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

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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