| H00265 | |
| H番号 | H00265 |
| 名称 | 遺伝性感覚性自律神経性ニューロパチー |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | 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 |
| 文献 | PMID:16183296 著者 Verpoorten N, De Jonghe P, Timmerman V タイトル Disease mechanisms in hereditary sensory and autonomic neuropathies. 雑誌 Neurobiol Dis 21:247-55 (2006) DOI:10.1016/j.nbd.2005.08.004 PMID:16775373 (SPTLC1, WNK1, IKBKAP, NTRK1, NGFB) 著者 Auer-Grumbach M, Mauko B, Auer-Grumbach P, Pieber TR タイトル Molecular genetics of hereditary sensory neuropathies. 雑誌 Neuromolecular Med 8:147-58 (2006) DOI:10.1385/NMM:8:1:147 PMID:20920666 (SPTLC2) 著者 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 タイトル Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. 雑誌 Am J Hum Genet 87:513-22 (2010) DOI:10.1016/j.ajhg.2010.09.010 PMID:19838196 (FAM134B) 著者 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 タイトル Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. 雑誌 Nat Genet 41:1179-81 (2009) DOI:10.1038/ng.464 PMID:21820098 (KIF1A) 著者 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 タイトル KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 雑誌 Am J Hum Genet 89:219-30 (2011) DOI:10.1016/j.ajhg.2011.06.013 PMID:17167479 (SCN9A) 著者 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 タイトル An SCN9A channelopathy causes congenital inability to experience pain. 雑誌 Nature 444:894-8 (2006) DOI:10.1038/nature05413 PMID:22522446 (DST) 著者 Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O タイトル Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. 雑誌 Ann Neurol 71:569-72 (2012) DOI:10.1002/ana.23524 PMID:25118027 (SCN11A) 著者 Woods CG, Babiker MO, Horrocks I, Tolmie J, Kurth I タイトル The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. 雑誌 Eur J Hum Genet 23:561-3 (2015) DOI:10.1038/ejhg.2014.166 PMID:26005867 (PRDM12) 著者 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 タイトル Transcriptional regulator PRDM12 is essential for human pain perception. 雑誌 Nat Genet 47:803-8 (2015) DOI:10.1038/ng.3308 PMID:23176824 (TECPR2) 著者 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 タイトル Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 雑誌 Am J Hum Genet 91:1065-72 (2012) DOI:10.1016/j.ajhg.2012.09.015 PMID:21194679 (ATL1) 著者 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 タイトル Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. 雑誌 Am J Hum Genet 88:99-105 (2011) DOI:10.1016/j.ajhg.2010.12.003 PMID:21532572 (DNMT1) 著者 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 タイトル Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. 雑誌 Nat Genet 43:595-600 (2011) DOI:10.1038/ng.830 PMID:24459106 (ATL3) 著者 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 タイトル Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. 雑誌 Brain 137:683-92 (2014) DOI:10.1093/brain/awt357 |