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X-linked dominant inheritance

MedGen UID:
376232
Concept ID:
C1847879
Finding
Synonym: X-linked dominant
 
HPO: HP:0001423
Orphanet: ORPHA409934

Definition

A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • X-linked dominant inheritance

Professional guidelines

PubMed

Qiu G, Liu C, Zhou J, Liu P, Wang J, Jiang H, Hou Z, Zhao Y, Sun K, Li-Ling J
Genet Test Mol Biomarkers 2010 Jun;14(3):385-91. doi: 10.1089/gtmb.2009.0175. PMID: 20578943
Levy M, Pirson Y, Simon P, Boudailliez B, Nivet H, Rancé N, Moynot A, Broyer M, Grünfeld JP
Clin Nephrol 1994 Oct;42(4):211-20. PMID: 7834912

Recent clinical studies

Etiology

Castellano-Martinez A, Acuñas-Soto S, Roldan-Cano V, Rodriguez-Gonzalez M
J Clin Res Pediatr Endocrinol 2022 Aug 25;14(3):344-349. Epub 2021 Mar 29 doi: 10.4274/jcrpe.galenos.2021.2020.0287. PMID: 33783172Free PMC Article
Svetel M, Dragašević N, Petrović I, Novaković I, Tomić A, Kresojević N, Stanković I, Kostić V
Neurol India 2021 Sep-Oct;69(5):1380-1388. doi: 10.4103/0028-3886.329603. PMID: 34747818
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA
Lancet 2019 Jun 15;393(10189):2416-2427. Epub 2019 May 16 doi: 10.1016/S0140-6736(19)30654-3. PMID: 31104833Free PMC Article
Yiu EM, Geevasinga N, Nicholson GA, Fagan ER, Ryan MM, Ouvrier RA
Neurology 2011 Feb 1;76(5):461-6. doi: 10.1212/WNL.0b013e31820a0ceb. PMID: 21282593
McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR, Daiger SP
Am J Hum Genet 1995 Jul;57(1):87-94. PMID: 7611300Free PMC Article

Diagnosis

Castellano-Martinez A, Acuñas-Soto S, Roldan-Cano V, Rodriguez-Gonzalez M
J Clin Res Pediatr Endocrinol 2022 Aug 25;14(3):344-349. Epub 2021 Mar 29 doi: 10.4274/jcrpe.galenos.2021.2020.0287. PMID: 33783172Free PMC Article
Svetel M, Dragašević N, Petrović I, Novaković I, Tomić A, Kresojević N, Stanković I, Kostić V
Neurol India 2021 Sep-Oct;69(5):1380-1388. doi: 10.4103/0028-3886.329603. PMID: 34747818
Boniel S, Szymańska K, Śmigiel R, Szczałuba K
Genes (Basel) 2021 Mar 25;12(4) doi: 10.3390/genes12040468. PMID: 33805950Free PMC Article
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA
Lancet 2019 Jun 15;393(10189):2416-2427. Epub 2019 May 16 doi: 10.1016/S0140-6736(19)30654-3. PMID: 31104833Free PMC Article
Naiboglu B, Oysu C, Gokceer T
Ear Nose Throat J 2012 Jan;91(1):E8-9. doi: 10.1177/014556131209100115. PMID: 22278878

Therapy

Castellano-Martinez A, Acuñas-Soto S, Roldan-Cano V, Rodriguez-Gonzalez M
J Clin Res Pediatr Endocrinol 2022 Aug 25;14(3):344-349. Epub 2021 Mar 29 doi: 10.4274/jcrpe.galenos.2021.2020.0287. PMID: 33783172Free PMC Article
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA
Lancet 2019 Jun 15;393(10189):2416-2427. Epub 2019 May 16 doi: 10.1016/S0140-6736(19)30654-3. PMID: 31104833Free PMC Article
Hamici S, Bastaki F, Khalifa M
Eur J Med Genet 2017 Oct;60(10):541-547. Epub 2017 Aug 1 doi: 10.1016/j.ejmg.2017.07.014. PMID: 28778787
Christianto A, Katayama S, Kameshita I, Inazu T
Clin Chim Acta 2016 Aug 1;459:132-136. Epub 2016 Jun 2 doi: 10.1016/j.cca.2016.06.003. PMID: 27265524
Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V
Am J Med Genet 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. PMID: 11807859

Prognosis

Wang H, Bing D, Li J, Xie L, Xiong F, Lan L, Wang D, Guan J, Wang Q
Neural Plast 2020;2020:5625768. Epub 2020 Jul 1 doi: 10.1155/2020/5625768. PMID: 32684920Free PMC Article
Mata IF, Jang Y, Kim CH, Hanna DS, Dorschner MO, Samii A, Agarwal P, Roberts JW, Klepitskaya O, Shprecher DR, Chung KA, Factor SA, Espay AJ, Revilla FJ, Higgins DS, Litvan I, Leverenz JB, Yearout D, Inca-Martinez M, Martinez E, Thompson TR, Cholerton BA, Hu SC, Edwards KL, Kim KS, Zabetian CP
Mol Neurodegener 2015 Sep 24;10:50. doi: 10.1186/s13024-015-0045-4. PMID: 26399558Free PMC Article
Van den Veyver IB, Zoghbi HY
Ment Retard Dev Disabil Res Rev 2002;8(2):82-6. doi: 10.1002/mrdd.10025. PMID: 12112732
Beke A, Papp Z
J Perinat Med 2001;29(3):230-4. doi: 10.1515/JPM.2001.032. PMID: 11447927
Risch N, Baron M, Mendlewicz J
J Psychiatr Res 1986;20(4):275-88. doi: 10.1016/0022-3956(86)90031-2. PMID: 3806423

Clinical prediction guides

Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA
Lancet 2019 Jun 15;393(10189):2416-2427. Epub 2019 May 16 doi: 10.1016/S0140-6736(19)30654-3. PMID: 31104833Free PMC Article
Mata IF, Jang Y, Kim CH, Hanna DS, Dorschner MO, Samii A, Agarwal P, Roberts JW, Klepitskaya O, Shprecher DR, Chung KA, Factor SA, Espay AJ, Revilla FJ, Higgins DS, Litvan I, Leverenz JB, Yearout D, Inca-Martinez M, Martinez E, Thompson TR, Cholerton BA, Hu SC, Edwards KL, Kim KS, Zabetian CP
Mol Neurodegener 2015 Sep 24;10:50. doi: 10.1186/s13024-015-0045-4. PMID: 26399558Free PMC Article
Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, Oosterwijk JC, Ober C
Am J Med Genet A 2004 Aug 30;129A(2):136-43. doi: 10.1002/ajmg.a.30123. PMID: 15316978
Van den Veyver IB, Zoghbi HY
Ment Retard Dev Disabil Res Rev 2002;8(2):82-6. doi: 10.1002/mrdd.10025. PMID: 12112732
Hahn AF
Brain Pathol 1993 Apr;3(2):147-55. doi: 10.1111/j.1750-3639.1993.tb00739.x. PMID: 8293176

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