KEGG   DISEASE: Non-syndromic X-linked mental retardationHelp
Entry
H00480                      Disease                                

Name
Non-syndromic X-linked mental retardation
Description
X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitive abilities because of mutations in several genes on the X chromosome. XLMR is subdivided into syndromic and non-syndromic forms (NS-XLMR), depending on whether further abnormalities are found on physical examination, laboratory investigation and brain imaging. The majority of genes that are mutated in NS-XLMR encode proteins are involved in three distinct pathways: Rho GTPases pathway modulating neuronal differentiation and synaptic plasticity; Rab GTPases pathway regulating synaptic vesicle cycling; gene expression regulation.
Category
Mental and behavioural disorder
Brite
Human diseases [BR:br08402]
 Other diseases
  Mental and behavioural disorders
   H00480  Non-syndromic X-linked mental retardation
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A00  Disorders of intellectual development
    H00480  Non-syndromic X-linked mental retardation
BRITE hierarchy
Pathway
hsa04810 Regulation of actin cytoskeleton   
Gene
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]
Comment
RPS6KA3, MECP2, SLC6A8, ARX, ATRX, PQBP1, and NLGL4 are also mutated in syndromic X-linked mental retardation
Other DBs
ICD-11: 6A00
ICD-10: F78.9
MeSH: C564490
OMIM: 309548 300849 300558 300143 300844 300055 300260 300436 300210 300419 300387 300852 300848 300495 309549 300850 300705 300716 300498 309530 300982 300984 309541 300114
Reference
  Authors
Renieri A, Pescucci C, Longo I, Ariani F, Mari F, Meloni I
  Title
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.
  Journal
J Cell Physiol 204:8-20 (2005)
DOI:10.1002/jcp.20296
Reference
  Authors
Raymond FL
  Title
X linked mental retardation: a clinical guide.
  Journal
J Med Genet 43:193-200 (2006)
DOI:10.1136/jmg.2005.033043
Reference
  Authors
Ropers HH, Hamel BC
  Title
X-linked mental retardation.
  Journal
Nat Rev Genet 6:46-57 (2005)
DOI:10.1038/nrg1501
Reference
  Authors
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
  Title
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
  Journal
Am J Hum Genet 82:1150-7 (2008)
DOI:10.1016/j.ajhg.2008.03.021
Reference
  Authors
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
  Title
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.
  Journal
J Med Genet 41:394-9 (2004)
DOI:10.1136/jmg.2003.016972
Reference
  Authors
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
  Title
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
  Journal
Nat Genet 42:486-8 (2010)
DOI:10.1038/ng.588
Reference
  Authors
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
  Title
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
  Journal
Mol Psychiatry 21:133-48 (2016)
DOI:10.1038/mp.2014.193
Reference
  Authors
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
  Title
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
  Journal
Am J Hum Genet 91:694-702 (2012)
DOI:10.1016/j.ajhg.2012.08.011
Reference
PMID:9415477
  Authors
Claes S, Vogels A, Holvoet M, Devriendt K, Raeymaekers P, Cassiman JJ, Fryns JP
  Title
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).
  Journal

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