KEGG   DISEASE: Hereditary sensory and autonomic neuropathy
Entry
H00265                      Disease                                
Name
Hereditary sensory and autonomic neuropathy
  Subgroup
Familial dysautonomia [DS:H01987]
Congenital pain insensitivity with anhidrosis [DS:H01836]
Hereditary sensory neuropathy (HSN)
Hereditary sensory neuropathy with spastic paraplegia [DS:H02380]
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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00265  Hereditary sensory and autonomic neuropathy
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Disorders of nerve root, plexus or peripheral nerves
   Hereditary neuropathy
    8C21  Hereditary sensory or autonomic neuropathy
     H00265  Hereditary sensory and autonomic neuropathy
Pathway
hsa04071  Sphingolipid signaling pathway
hsa00600  Sphingolipid metabolism
hsa04722  Neurotrophin signaling pathway
hsa04210  Apoptosis
hsa04010  MAPK signaling pathway
hsa04750  Inflammatory mediator regulation of TRP channels
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]
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
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
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