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

Non-syndromic X-linked mental retardation
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.
Mental and behavioural disorder
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
hsa04810 Regulation of actin cytoskeleton   
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]
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
Renieri A, Pescucci C, Longo I, Ariani F, Mari F, Meloni I
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.
J Cell Physiol 204:8-20 (2005)
Raymond FL
X linked mental retardation: a clinical guide.
J Med Genet 43:193-200 (2006)
Ropers HH, Hamel BC
X-linked mental retardation.
Nat Rev Genet 6:46-57 (2005)
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
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
Am J Hum Genet 82:1150-7 (2008)
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
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.
J Med Genet 41:394-9 (2004)
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
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
Nat Genet 42:486-8 (2010)
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
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Mol Psychiatry 21:133-48 (2016)
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
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
Am J Hum Genet 91:694-702 (2012)
Claes S, Vogels A, Holvoet M, Devriendt K, Raeymaekers P, Cassiman JJ, Fryns JP
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).

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