| H00265 | |
| H number | H00265 |
| Name | Hereditary sensory and autonomic neuropathy |
| Description | Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous group of disorders of low prevalence. They are characterized by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Autonomic features vary between different subgroups. |
| Category | Nervous system disease |
| Network | - |
| Gene | (HSAN1/HSN1A) SPTLC1 [HSA:10558] [KO:K00654] (HSAN1C) SPTLC2 [HSA:9517] [KO:K00654] (HSAN2A) WNK1 [HSA:65125] [KO:K08867] (HSAN2B) FAM134B [HSA:54463] [KO:K23880] (HSAN2C) KIF1A [HSA:547] [KO:K10392] (HSAN2D) SCN9A [HSA:6335] [KO:K04841] (HSAN3) IKBKAP [HSA:8518] [KO:K11373] (HSAN4) NTRK1 [HSA:4914] [KO:K03176] (HSAN5) NGFB [HSA:4803] [KO:K02582] (HSAN6) DST [HSA:667] [KO:K10382] (HSAN7) SCN11A [HSA:11280] [KO:K04843] (HSAN8) PRDM12 [HSA:59335] [KO:K24255] (HSAN9) TECPR2 [HSA:9895] [KO:K23881] (HSN1D) ATL1 [HSA:51062] [KO:K17339] (HSN1E) DNMT1 [HSA:1786] [KO:K00558] (HSN1F) ATL3 [HSA:25923] [KO:K17339] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C21 ICD-10: G90.1 G60.8 MeSH: D009477 OMIM: 162400 613640 201300 613115 614213 243000 223900 256800 608654 614653 615548 616488 615031 613708 614116 615632 256840 |
| Reference | PMID:16183296 AUTHORS Verpoorten N, De Jonghe P, Timmerman V TITLE Disease mechanisms in hereditary sensory and autonomic neuropathies. JOURNAL Neurobiol Dis 21:247-55 (2006) DOI:10.1016/j.nbd.2005.08.004 PMID:16775373 (SPTLC1, WNK1, IKBKAP, NTRK1, NGFB) AUTHORS Auer-Grumbach M, Mauko B, Auer-Grumbach P, Pieber TR TITLE Molecular genetics of hereditary sensory neuropathies. JOURNAL Neuromolecular Med 8:147-58 (2006) DOI:10.1385/NMM:8:1:147 PMID:20920666 (SPTLC2) AUTHORS Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Loscher W, Vondracek P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V TITLE Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. JOURNAL Am J Hum Genet 87:513-22 (2010) DOI:10.1016/j.ajhg.2010.09.010 PMID:19838196 (FAM134B) AUTHORS Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nurnberg G, Nurnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hubner CA TITLE Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. JOURNAL Nat Genet 41:1179-81 (2009) DOI:10.1038/ng.464 PMID:21820098 (KIF1A) AUTHORS Riviere JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA TITLE KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. JOURNAL Am J Hum Genet 89:219-30 (2011) DOI:10.1016/j.ajhg.2011.06.013 PMID:17167479 (SCN9A) AUTHORS Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG TITLE An SCN9A channelopathy causes congenital inability to experience pain. JOURNAL Nature 444:894-8 (2006) DOI:10.1038/nature05413 PMID:22522446 (DST) AUTHORS Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O TITLE Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. JOURNAL Ann Neurol 71:569-72 (2012) DOI:10.1002/ana.23524 PMID:25118027 (SCN11A) AUTHORS Woods CG, Babiker MO, Horrocks I, Tolmie J, Kurth I TITLE The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. JOURNAL Eur J Hum Genet 23:561-3 (2015) DOI:10.1038/ejhg.2014.166 PMID:26005867 (PRDM12) AUTHORS Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhuttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J TITLE Transcriptional regulator PRDM12 is essential for human pain perception. JOURNAL Nat Genet 47:803-8 (2015) DOI:10.1038/ng.3308 PMID:23176824 (TECPR2) AUTHORS Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D TITLE Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. JOURNAL Am J Hum Genet 91:1065-72 (2012) DOI:10.1016/j.ajhg.2012.09.015 PMID:21194679 (ATL1) AUTHORS Guelly C, Zhu PP, Leonardis L, Papic L, Zidar J, Schabhuttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Frohlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M TITLE Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. JOURNAL Am J Hum Genet 88:99-105 (2011) DOI:10.1016/j.ajhg.2010.12.003 PMID:21532572 (DNMT1) AUTHORS Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ TITLE Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. JOURNAL Nat Genet 43:595-600 (2011) DOI:10.1038/ng.830 PMID:24459106 (ATL3) AUTHORS Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Giesselmann S, Beil FT, Pou-Serradell A, Vilchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hubner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I TITLE Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. JOURNAL Brain 137:683-92 (2014) DOI:10.1093/brain/awt357 |