KEGG   DISEASE: 統合失調症
エントリ  
H01649                                                             
名称    
統合失調症
概要    
Schizophrenia (SCZD) is a common serious psychotic illness that typically emerges in late adolescence and early adulthood. It is characterized by hallucinations and delusions (commonly known as positive symptoms), social withdrawal, alogia, and flat affect (negative symptoms), and cognitive disabilities. While treatments exist for the psychotic symptoms of schizophrenia, there is no effective therapy to prevent the cognitive impairments. The disorder is substantially heritable, but expression of the clinical phenotype is likely to involve the interplay of multiple susceptibility variants, epigenetic factors, and environmental influences. Although it has been suggested that many of the promising candidate genes are involved in the development and maintenance of synaptic function, the most of them remains to be identified. The pathogenic mechanisms underlying schizophrenia are unknown, but observers have repeatedly noted pathological features involving excessive loss of gray matter and reduced numbers of synaptic structures on neurons. Recently, it has been found that alleles of the C4 genes are associated with schizophrenia in proportion to their tendency to promote greater expression of C4A in the brain.
カテゴリ  
精神及び行動の障害
階層分類  
ヒト疾患 [BR:jp08402]
 その他の疾患
  精神及び行動の障害
   H01649  統合失調症
ICD-11 による疾患分類 [BR:jp08403]
 06 精神, 行動, 神経発達の障害
  統合失調症または他の一次性精神症
   6A20  統合失調症
    H01649  統合失調症
関連パスウェイ
hsa04080  Neuroactive ligand-receptor interaction
hsa04728  Dopaminergic synapse
hsa04724  Glutamatergic synapse
hsa04012  ErbB signaling pathway
病因遺伝子 
(SCZD4) PRODH [HSA:5625] [KO:K00318]
(SCZD6) NRG1 [HSA:3084] [KO:K05455]
(SCZD9) DISC1 [HSA:27185] [KO:K16534]
(SCZD15) SHANK3 [HSA:85358] [KO:K15009]
(SZCD17) NRXN1 [HSA:9378] [KO:K07377]
(SCZD18) SLC1A1 [HSA:6505] [KO:K05612]
(SCZD19) RBM12 [HSA:10137] [KO:K24526]
MTHFR [HSA:4524] [KO:K25004]
CHI3L1 [HSA:1116] [KO:K17523]
SYN2 [HSA:6854] [KO:K19941]
DRD3 [HSA:1814] [KO:K04146]
RTN4R [HSA:65078] [KO:K16659]
DAOA [HSA:267012] [KO:K24397]
HTR2A [HSA:3356] [KO:K04157]
AKT1 [HSA:207] [KO:K04456]
C4A [HSA:720] [KO:K03989]
APOL2 [HSA:23780] [KO:K14480]
APOL4 [HSA:80832] [KO:K14480]
治療薬   
カルバマゼピン [DR:D00252]
クロルプロマジン塩酸塩 [DR:D00789]
クロルプロマジンフェノールフタリン酸塩 [DR:D04034]
レボメプロマジン塩酸塩 [DR:D01520]
レボメプロマジンマレイン酸塩 [DR:D02248]
フルフェナジンデカン酸エステル [DR:D00793]
フルフェナジンマレイン酸塩 [DR:D02163]
ペルフェナジン [DR:D00503]
ペルフェナジンマレイン酸塩 [DR:D02037]
ペルフェナジンフェンジゾ酸塩 [DR:D04038]
塩酸ペルフェナジン [DR:D04965]
プロクロルペラジンマレイン酸塩 [DR:D00479]
プロペリシアジン [DR:D01485]
ハロペリドール [DR:D00136]
ハロペリドールデカン酸エステル [DR:D01898]
ピパンペロン塩酸塩 [DR:D01482]
オキシペルチン [DR:D01219]
ルラシドン塩酸塩 [DR:D04820]
クロザピン [DR:D00283]
オランザピン [DR:D00454]
クエチアピンフマル酸塩 [DR:D00458]
アセナピンマレイン酸塩 [DR:D02995]
スルピリド [DR:D01226]
スルトプリド塩酸塩 [DR:D02208]
リスペリドン [DR:D00426]
モサプラミン塩酸塩 [DR:D01548]
ゾテピン [DR:D01321]
アリピプラゾール [DR:D01164]
アリピプラゾール水和物 [DR:D10516]
パリペリドン [DR:D05339]
パリペリドンパルミチン酸エステル [DR:D05340]
ブレクスピプラゾール [DR:D10309]
エチゾラム [DR:D01514]
スピペロン [DR:D01051]
ブロナンセリン [DR:D01176]
ネモナプリド [DR:D01468]
チミペロン [DR:D02035]
リンク   
ICD-11: 6A20
ICD-10: F20
MeSH: D012559
OMIM: 181500 600850 604906 603013 613950 614332 615232 617629
文献    
  著者
Austin J
  タイトル
Schizophrenia: an update and review.
  雑誌
J Genet Couns 14:329-40 (2005)
DOI:10.1007/s10897-005-1622-4
文献    
  著者
Cacabelos R, Martinez-Bouza R
  タイトル
Genomics and pharmacogenomics of schizophrenia.
  雑誌
CNS Neurosci Ther 17:541-65 (2011)
DOI:10.1111/j.1755-5949.2010.00187.x
文献    
PMID:15274030 (PRODH)
  著者
Li T, Ma X, Sham PC, Sun X, Hu X, Wang Q, Meng H, Deng W, Liu X, Murray RM, Collier DA
  タイトル
Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population.
  雑誌
Am J Med Genet B Neuropsychiatr Genet 129B:13-5 (2004)
DOI:10.1002/ajmg.b.30049
文献    
PMID:15197397 (NRG1)
  著者
Thiselton DL, Webb BT, Neale BM, Ribble RC, O'Neill FA, Walsh D, Riley BP, Kendler KS
  タイトル
No evidence for linkage or association of neuregulin-1 (NRG1) with disease in the Irish study of high-density schizophrenia families (ISHDSF).
  雑誌
Mol Psychiatry 9:777-83; image 729 (2004)
DOI:10.1038/sj.mp.4001530
文献    
PMID:10814723 (DISC1)
  著者
Millar JK, Wilson-Annan JC, Anderson S, Christie S, Taylor MS, Semple CA, Devon RS, St Clair DM, Muir WJ, Blackwood DH, Porteous DJ
  タイトル
Disruption of two novel genes by a translocation co-segregating with schizophrenia.
  雑誌
Hum Mol Genet 9:1415-23 (2000)
DOI:10.1093/hmg/9.9.1415
文献    
PMID:20385823 (SHANK3)
  著者
Gauthier J, Champagne N, Lafreniere RG, Xiong L, Spiegelman D, Brustein E, Lapointe M, Peng H, Cote M, Noreau A, Hamdan FF, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Joober R, Fathalli F, Mouaffak F, Haghighi AP, Neri C, Dube MP, Samuels ME, Marineau C, Stone EA, Awadalla P, Barker PA, Carbonetto S, Drapeau P, Rouleau GA
  タイトル
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
  雑誌
Proc Natl Acad Sci U S A 107:7863-8 (2010)
DOI:10.1073/pnas.0906232107
文献    
PMID:18945720 (NRXN1)
  著者
Rujescu D, Ingason A, Cichon S, Pietilainen OP, Barnes MR, Toulopoulou T, Picchioni M, Vassos E, Ettinger U, Bramon E, Murray R, Ruggeri M, Tosato S, Bonetto C, Steinberg S, Sigurdsson E, Sigmundsson T, Petursson H, Gylfason A, Olason PI, Hardarsson G, Jonsdottir GA, Gustafsson O, Fossdal R, Giegling I, Moller HJ, Hartmann AM, Hoffmann P, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Djurovic S, Melle I, Andreassen OA, Hansen T, Werge T, Kiemeney LA, Franke B, Veltman J, Buizer-Voskamp JE, Sabatti C, Ophoff RA, Rietschel M, Nothen MM, Stefansson K, Peltonen L, St Clair D, Stefansson H, Collier DA
  タイトル
Disruption of the neurexin 1 gene is associated with schizophrenia.
  雑誌
Hum Mol Genet 18:988-96 (2009)
DOI:10.1093/hmg/ddn351
文献    
PMID:23341099 (SLC1A1)
  著者
Myles-Worsley M, Tiobech J, Browning SR, Korn J, Goodman S, Gentile K, Melhem N, Byerley W, Faraone SV, Middleton FA
  タイトル
Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family.
  雑誌
Am J Med Genet B Neuropsychiatr Genet 162B:87-95 (2013)
DOI:10.1002/ajmg.b.32125
文献    
PMID:28628109 (RBM12)
  著者
Steinberg S, Gudmundsdottir S, Sveinbjornsson G, Suvisaari J, Paunio T, Torniainen-Holm M, Frigge ML, Jonsdottir GA, Huttenlocher J, Arnarsdottir S, Ingimarsson O, Haraldsson M, Tyrfingsson T, Thorgeirsson TE, Kong A, Norddahl GL, Gudbjartsson DF, Sigurdsson E, Stefansson H, Stefansson K
  タイトル
Truncating mutations in RBM12 are associated with psychosis.
  雑誌
Nat Genet 49:1251-1254 (2017)
DOI:10.1038/ng.3894
文献    
PMID:10679944 (MTHFR)
  著者
Sibani S, Christensen B, O'Ferrall E, Saadi I, Hiou-Tim F, Rosenblatt DS, Rozen R
  タイトル
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
  雑誌
文献    
PMID:17160890 (CHI3L1)
  著者
Zhao X, Tang R, Gao B, Shi Y, Zhou J, Guo S, Zhang J, Wang Y, Tang W, Meng J, Li S, Wang H, Ma G, Lin C, Xiao Y, Feng G, Lin Z, Zhu S, Xing Y, Sang H, St Clair D, He L
  タイトル
Functional variants in the promoter region of Chitinase 3-like 1 (CHI3L1) and susceptibility to schizophrenia.
  雑誌
Am J Hum Genet 80:12-8 (2007)
DOI:10.1086/510438
文献    
PMID:15449241 (SYN2)
  著者
Chen Q, He G, Qin W, Chen QY, Zhao XZ, Duan SW, Liu XM, Feng GY, Xu YF, St Clair D, Li M, Wang JH, Xing YL, Shi JG, He L
  タイトル
Family-based association study of synapsin II and schizophrenia.
  雑誌
Am J Hum Genet 75:873-7 (2004)
DOI:10.1086/425588
文献    
PMID:1362221 (DRD3)
  著者
Crocq MA, Mant R, Asherson P, Williams J, Hode Y, Mayerova A, Collier D, Lannfelt L, Sokoloff P, Schwartz JC, et al.
  タイトル
Association between schizophrenia and homozygosity at the dopamine D3 receptor gene.
  雑誌
J Med Genet 29:858-60 (1992)
DOI:10.1136/jmg.29.12.858
文献    
PMID:15532024 (RTN4R)
  著者
Sinibaldi L, De Luca A, Bellacchio E, Conti E, Pasini A, Paloscia C, Spalletta G, Caltagirone C, Pizzuti A, Dallapiccola B
  タイトル
Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.
  雑誌
Hum Mutat 24:534-5 (2004)
DOI:10.1002/humu.9292
文献    
PMID:12364586 (DAOA)
  著者
Chumakov I, Blumenfeld M, Guerassimenko O, Cavarec L, Palicio M, Abderrahim H, Bougueleret L, Barry C, Tanaka H, La Rosa P, Puech A, Tahri N, Cohen-Akenine A, Delabrosse S, Lissarrague S, Picard FP, Maurice K, Essioux L, Millasseau P, Grel P, Debailleul V, Simon AM, Caterina D, Dufaure I, Malekzadeh K, Belova M, Luan JJ, Bouillot M, Sambucy JL, Primas G, Saumier M, Boubkiri N, Martin-Saumier S, Nasroune M, Peixoto H, Delaye A, Pinchot V, Bastucci M, Guillou S, Chevillon M, Sainz-Fuertes R, Meguenni S, Aurich-Costa J, Cherif D, Gimalac A, Van Duijn C, Gauvreau D, Ouellette G, Fortier I, Raelson J, Sherbatich T, Riazanskaia N, Rogaev E, Raeymaekers P, Aerssens J, Konings F, Luyten W, Macciardi F, Sham PC, Straub RE, Weinberger DR, Cohen N, Cohen D
  タイトル
Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia.
  雑誌
Proc Natl Acad Sci U S A 99:13675-80 (2002)
DOI:10.1073/pnas.182412499
文献    
PMID:12692777 (HTR2A)
  著者
Czerski PM, Leszczynska-Rodziewicz A, Dmitrzak-Weglarz M, Kapelski P, Godlewski S, Rybakowski J, Hauser J
  タイトル
Association analysis of serotonin 2A receptor gene T102c polymorphism and schizophrenia.
  雑誌
World J Biol Psychiatry 4:69-73 (2003)
DOI:10.3109/15622970309167954
文献    
PMID:14745448 (AKT1)
  著者
Emamian ES, Hall D, Birnbaum MJ, Karayiorgou M, Gogos JA
  タイトル
Convergent evidence for impaired AKT1-GSK3beta signaling in schizophrenia.
  雑誌
Nat Genet 36:131-7 (2004)
DOI:10.1038/ng1296
文献    
PMID:26814963 (C4A)
  著者
Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, Tooley K, Presumey J, Baum M, Van Doren V, Genovese G, Rose SA, Handsaker RE, Daly MJ, Carroll MC, Stevens B, McCarroll SA
  タイトル
Schizophrenia risk from complex variation of complement component 4.
  雑誌
Nature 530:177-83 (2016)
DOI:10.1038/nature16549
文献    
PMID:11930015 (APOL2 APOL4)
  著者
Mimmack ML, Ryan M, Baba H, Navarro-Ruiz J, Iritani S, Faull RL, McKenna PJ, Jones PB, Arai H, Starkey M, Emson PC, Bahn S
  タイトル
Gene expression analysis in schizophrenia: reproducible up-regulation of several members of the apolipoprotein L family located in a high-susceptibility locus for schizophrenia on chromosome 22.
  雑誌
Proc Natl Acad Sci U S A 99:4680-5 (2002)
DOI:10.1073/pnas.032069099
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