| H00480 | |
| H number | H00480 |
| Name | X-linked intellectual developmental disorder; X-linked mental retardation |
| Description | X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in several genes on the X chromosome. XLID is subdivided into syndromic and non-syndromic forms, depending on whether further abnormalities are found on physical examination, laboratory investigation and brain imaging. |
| Category | Mental and behavioural disorder |
| Network | nt06512(H00480) Chromosome cohesion and segregation nt06523(H00480) Epigenetic regulation by Polycomb complexes nt06525(H00480) Ferroptosis |
| Gene | (XLID1) IQSEC2 [HSA:23096] [KO:K12495] (XLID3) HCFC1 [HSA:3054] [KO:K14966] (XLID9) FTSJ1 [HSA:24140] [KO:K14864] (XLID12) THOC2 [HSA:57187] [KO:K12879] (XLID19) RPS6KA3 [HSA:6197] [KO:K04373] (XLID21) IL1RAPL1 [HSA:11141] [KO:K05170] (XLID29) ARX [HSA:170302] [KO:K09452] (XLID30) PAK3 [HSA:5063] [KO:K05733] (XLID41) GDI1 [HSA:2664] [KO:K17255] (XLID58) TSPAN7 [HSA:7102] [KO:K06571] (XLID63) ACSL4 [HSA:2182] [KO:K01897] (XLID72) RAB39B [HSA:116442] [KO:K07925] (XLID90) DLG3 [HSA:1741] [KO:K21098] (XLID93) BRWD3 [HSA:254065] [KO:K11798] (XLID96) SYP [HSA:6855] (XLID97) ZNF711 [HSA:7552] [KO:K24376] (XLID98) NEXMIF [HSA:340533] [KO:K25862] (XLID99) USP9X [HSA:8239] [KO:K11840] (XLID100) KIF4A [HSA:24137] [KO:K10395] (XLID101) MID2 [HSA:11043] [KO:K10647] (XLID103) KLHL15 [HSA:80311] [KO:K10452] (XLID104) FRMPD4 [HSA:9758] [KO:K23956] (XLID105) USP27X [HSA:389856] [KO:K11366] (XLID106) OGT [HSA:8473] [KO:K09667] (XLID107) STEEP1 [HSA:63932] [KO:K24996] (XLID108) SLC9A7 [HSA:84679] [KO:K12041] (XLID109) AFF2 [HSA:2334] [KO:K15194] (XLID110) FGF13 [HSA:2258] [KO:K22413] (XLID111) SLITRK2 [HSA:84631] [KO:K25833] (XLID112) ZMYM3 [HSA:9203] [KO:K24675] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 6A00 ICD-10: F78.9 MeSH: C564490 OMIM: 309530 309541 309549 300957 300844 300143 300419 300558 300849 300436 300210 300387 300271 300850 300659 300802 300803 300912 300919 300923 300982 300983 300984 300997 301013 301024 309548 301095 301107 301111 |
| Reference | PMID:15690397 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 PMID:16118346 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 PMID:15630421 AUTHORS Ropers HH, Hamel BC TITLE X-linked mental retardation. JOURNAL Nat Rev Genet 6:46-57 (2005) DOI:10.1038/nrg1501 PMID:20473311 (XLID1) 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 PMID:23000143 (XLID3) 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 PMID:15162322 (XLID9) AUTHORS Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B, Hamel B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gecz J, Lenzner S, Kalscheuer VM, Ropers HH TITLE Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. JOURNAL Am J Hum Genet 75:305-9 (2004) DOI:10.1086/422507 PMID:26166480 (XLID12) AUTHORS Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J TITLE THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. JOURNAL Am J Hum Genet 97:302-10 (2015) DOI:10.1016/j.ajhg.2015.05.021 PMID:10319851 (XLID19) AUTHORS Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A TITLE A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. JOURNAL Nat Genet 22:13-4 (1999) DOI:10.1038/8719 PMID:10471494 (XLID21) AUTHORS Carrie A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J TITLE A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. JOURNAL Nat Genet 23:25-31 (1999) DOI:10.1038/12623 PMID:11971879 (XLID29) AUTHORS Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J TITLE ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. JOURNAL Hum Mol Genet 11:981-91 (2002) DOI:10.1093/hmg/11.8.981 PMID:9731525 (XLID30) AUTHORS Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA TITLE PAK3 mutation in nonsyndromic X-linked mental retardation. JOURNAL Nat Genet 20:25-30 (1998) DOI:10.1038/1675 PMID:9620768 (XLID41) AUTHORS D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, Tandon A, Valtorta F, Balch WE, Chelly J, Toniolo D TITLE Mutations in GDI1 are responsible for X-linked non-specific mental retardation. JOURNAL Nat Genet 19:134-9 (1998) DOI:10.1038/487 PMID:10655063 (XLID58) AUTHORS Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J TITLE A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. JOURNAL Nat Genet 24:167-70 (2000) DOI:10.1038/72829 PMID:11889465 (XLID63) AUTHORS Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A TITLE FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. JOURNAL Nat Genet 30:436-40 (2002) DOI:10.1038/ng857 PMID:20159109 (XLID72) AUTHORS Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P TITLE Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. JOURNAL Am J Hum Genet 86:185-95 (2010) DOI:10.1016/j.ajhg.2010.01.011 PMID:15185169 (XLID90) AUTHORS Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL TITLE Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. JOURNAL Am J Hum Genet 75:318-24 (2004) DOI:10.1086/422703 PMID:17668385 (XLID93) AUTHORS Field M, Tarpey PS, Smith R, Edkins S, O'Meara S, Stevens C, Tofts C, Teague J, Butler A, Dicks E, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Wooster R, Moon J, Luo Y, Hughes H, Shaw M, Friend KL, Corbett M, Turner G, Partington M, Mulley J, Bobrow M, Schwartz C, Stevenson R, Gecz J, Stratton MR, Futreal PA, Raymond FL TITLE Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. JOURNAL Am J Hum Genet 81:367-74 (2007) DOI:10.1086/520677 PMID:19377476 (XLID96 XLID97) AUTHORS Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR TITLE A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. JOURNAL Nat Genet 41:535-43 (2009) DOI:10.1038/ng.367 PMID:23615299 (XLID98) AUTHORS Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY TITLE Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. JOURNAL Hum Mol Genet 22:3306-14 (2013) DOI:10.1093/hmg/ddt187 PMID:24607389 (XLID99) AUTHORS Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz J, Jolly LA TITLE Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. JOURNAL Am J Hum Genet 94:470-8 (2014) DOI:10.1016/j.ajhg.2014.02.004 PMID:24812067 (XLID100) AUTHORS Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T TITLE Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. JOURNAL J Med Genet 51:487-94 (2014) DOI:10.1136/jmedgenet-2013-102182 PMID:24115387 (XLID101) AUTHORS Geetha TS, Michealraj KA, Kabra M, Kaur G, Juyal RC, Thelma BK TITLE Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. JOURNAL Hum Mutat 35:41-4 (2014) DOI:10.1002/humu.22453 PMID:24817631 (XLID103) AUTHORS Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Megarbane A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L TITLE Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes. JOURNAL Am J Med Genet A 164A:1991-7 (2014) DOI:10.1002/ajmg.a.36602 PMID:25644381 (XLID104 XLID105) 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 PMID:28302723 (XLID106) AUTHORS Vaidyanathan K, Niranjan T, Selvan N, Teo CF, May M, Patel S, Weatherly B, Skinner C, Opitz J, Carey J, Viskochil D, Gecz J, Shaw M, Peng Y, Alexov E, Wang T, Schwartz C, Wells L TITLE Identification and characterization of a missense mutation in the O-linked beta-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. JOURNAL J Biol Chem 292:8948-8963 (2017) DOI:10.1074/jbc.M116.771030 PMID:29374277 (XLID107) AUTHORS Verkerk AJMH, Zeidler S, Breedveld G, Overbeek L, Huigh D, Koster L, van der Linde H, de Esch C, Severijnen LA, de Vries BBA, Swagemakers SMA, Willemsen R, Hoogeboom AJM, van der Spek PJ, Oostra BA TITLE CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. JOURNAL Eur J Hum Genet 26:552-560 (2018) DOI:10.1038/s41431-017-0051-9 PMID:30335141 (XLID108) AUTHORS Khayat W, Hackett A, Shaw M, Ilie A, Dudding-Byth T, Kalscheuer VM, Christie L, Corbett MA, Juusola J, Friend KL, Kirmse BM, Gecz J, Field M, Orlowski J TITLE A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. JOURNAL Hum Mol Genet 28:598-614 (2019) DOI:10.1093/hmg/ddy371 PMID:21739600 (XLID109) AUTHORS Stettner GM, Shoukier M, Hoger C, Brockmann K, Auber B TITLE Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. JOURNAL Am J Med Genet A 155A:2003-7 (2011) DOI:10.1002/ajmg.a.34122 PMID:34184986 (XLID110) AUTHORS Pan X, Zhao J, Zhou Z, Chen J, Yang Z, Wu Y, Bai M, Jiao Y, Yang Y, Hu X, Cheng T, Lu Q, Wang B, Li CL, Lu YJ, Diao L, Zhong YQ, Pan J, Zhu J, Xiao HS, Qiu ZL, Li J, Wang Z, Hui J, Bao L, Zhang X TITLE 5'-UTR SNP of FGF13 causes translational defect and intellectual disability. JOURNAL Elife 10:63021 (2021) DOI:10.7554/eLife.63021 PMID:35840571 (XLID111) AUTHORS El Chehadeh S, Han KA, Kim D, Jang G, Bakhtiari S, Lim D, Kim HY, Kim J, Kim H, Wynn J, Chung WK, Vitiello G, Cutcutache I, Page M, Gecz J, Harper K, Han AR, Kim HM, Wessels M, Bayat A, Jaen AF, Selicorni A, Maitz S, de Brouwer APM, Silfhout AV, Armstrong M, Symonds J, Kury S, Isidor B, Cogne B, Nizon M, Feger C, Muller J, Torti E, Grange DK, Willems M, Kruer MC, Ko J, Piton A, Um JW TITLE SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. JOURNAL Nat Commun 13:4112 (2022) DOI:10.1038/s41467-022-31566-z PMID:24721225 (XLID112) AUTHORS Philips AK, Siren A, Avela K, Somer M, Peippo M, Ahvenainen M, Doagu F, Arvio M, Kaariainen H, Van Esch H, Froyen G, Haas SA, Hu H, Kalscheuer VM, Jarvela I TITLE X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. JOURNAL Orphanet J Rare Dis 9:49 (2014) DOI:10.1186/1750-1172-9-49 |