KEGG   DISEASE: 非症候群性X連鎖精神遅滞Help
エントリ  
H00480                                                             

名称    
非症候群性X連鎖精神遅滞;
Non-syndromic X-linked mental retardation
概要    
X連鎖性精神遅滞は、X染色体上の遺伝子の変異による認知機能の発達障害である。X連鎖性精神遅滞は、精神遅滞以外の異常の有無によって症候群性と非症候群性に分けられる。非症候群性X連鎖精神遅滞の原因遺伝子のうち大部分は次の3つの経路、すなわち、神経細胞分化とシナプス可塑性を調節するRho GTPases経路、シナプス小胞循環を制御するRab GTPases経路、遺伝子発現の制御に含まれる。
カテゴリ  
先天異常; 精神遅滞
階層分類  
ヒト疾患 [BR:jp08402]
 その他の先天性異常症
  その他
   H00480  非症候群性X連鎖精神遅滞
ICD-10 による疾患分類 [BR:jp08403]
 5. 精神及び行動の障害 (F00-F99)
  F70-F79  知的障害
   F78  その他の知的障害
    H00480  非症候群性X連鎖精神遅滞
BRITE hierarchy
パスウェイ 
アクチン細胞骨格の制御
病因遺伝子 
FMR2 [HSA:2334] [KO:K15194]
GDI1 [HSA:2664] [KO:K17255]
PAK3 [HSA:5063] [KO:K05733]
IL1RAPL1 [HSA:11141] [KO:K05170]
RPS6KA3 [HSA:6197] [KO:K04373]
MECP2 [HSA:4204] [KO:K11588]
ARHGEF6 [HSA:9459] [KO:K05729]
TM4SF2 [HSA:7102] [KO:K06571]
SLC6A8 [HSA:6535] [KO:K05039]
ARX [HSA:170302] [KO:K09452]
ATRX [HSA:546] [KO:K10779]
ACSL4 [HSA:2182] [KO:K01897]
AGTR2 [HSA:186] [KO:K04167]
PQBP1 [HSA:10084] [KO:K12865]
ZNF41 [HSA:7592] [KO:K09228]
NLGN4 [HSA:57502] [KO:K07378]
FTSJ1 [HSA:24140] [KO:K14864]
DLG3 [HSA:1741] [KO:K21098]
HSD17B10 [HSA:3028] [KO:K08683]
MAGT1 [HSA:84061] [KO:K19478]
ZNF81 [HSA:347344] [KO:K09228]
IQSEC2 [HSA:23096] [KO:K12495]
KLHL15 [HSA:80311] [KO:K10452]
USP27X [HSA:389856] [KO:K11366]
HCFC1 [HSA:3054] [KO:K14966]
CLCN4 [HSA:1183] [KO:K05012]
コメント  
RPS6KA3, MECP2, SLC6A8, ARX, ATRX, PQBP1, and NLGL4 are also mutated in syndromic X-linked mental retardation
リンク   
文献    
  著者
Renieri A, Pescucci C, Longo I, Ariani F, Mari F, Meloni I
  タイトル
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.
  雑誌
J Cell Physiol 204:8-20 (2005)
DOI:10.1002/jcp.20296
文献    
  著者
Raymond FL
  タイトル
X linked mental retardation: a clinical guide.
  雑誌
J Med Genet 43:193-200 (2006)
DOI:10.1136/jmg.2005.033043
文献    
  著者
Ropers HH, Hamel BC
  タイトル
X-linked mental retardation.
  雑誌
Nat Rev Genet 6:46-57 (2005)
DOI:10.1038/nrg1501
文献    
  著者
Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, Edkins S, Futreal PA, Stratton MR, Turner G, Matthijs G, Gecz J, Munnich A, Colleaux L
  タイトル
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
  雑誌
Am J Hum Genet 82:1150-7 (2008)
DOI:10.1016/j.ajhg.2008.03.021
文献    
  著者
Kleefstra T, Yntema HG, Oudakker AR, Banning MJ, Kalscheuer VM, Chelly J, Moraine C, Ropers HH, Fryns JP, Janssen IM, Sistermans EA, Nillesen WN, de Vries LB, Hamel BC, van Bokhoven H
  タイトル
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.
  雑誌
J Med Genet 41:394-9 (2004)
DOI:10.1136/jmg.2003.016972
文献    
  著者
Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gecz J
  タイトル
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
  雑誌
Nat Genet 42:486-8 (2010)
DOI:10.1038/ng.588
文献    
PMID:25644381 (gene)
  著者
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bommel A, Goke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Muller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bielenska A, Ousager LB, Wieacker P, Rodriguez Criado G, Bondeson ML, Anneren G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM
  タイトル
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
  雑誌
Mol Psychiatry 21:133-48 (2016)
DOI:10.1038/mp.2014.193
文献    
PMID:23000143 (gene)
  著者
Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J
  タイトル
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
  雑誌
Am J Hum Genet 91:694-702 (2012)
DOI:10.1016/j.ajhg.2012.08.011
文献    
PMID:9415477 (gene)
  著者
Claes S, Vogels A, Holvoet M, Devriendt K, Raeymaekers P, Cassiman JJ, Fryns JP
  タイトル
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).
  雑誌
Am J Med Genet 73:474-9 (1997)
DOI:10.1002/(SICI)1096-8628(19971231)73:4<474::AID-AJMG18>3.0.CO;2-O

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