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X-Linked Inherited Disorder

MedGen UID:
443623
Concept ID:
C2828000
Disease or Syndrome

Definition

An inherited disorder affecting mostly males. It results from defective genes that are present on the X chromosome. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Silva CAB, Andrade LGM, Vaisbich MH, Barreto FC
J Bras Nefrol 2022 Apr-Jun;44(2):249-267. doi: 10.1590/2175-8239-JBN-2021-0208. PMID: 35212703Free PMC Article
Hopkin RJ, Jefferies JL, Laney DA, Lawson VH, Mauer M, Taylor MR, Wilcox WR; Fabry Pediatric Expert Panel
Mol Genet Metab 2016 Feb;117(2):104-13. Epub 2015 Oct 23 doi: 10.1016/j.ymgme.2015.10.007. PMID: 26546059
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031

Recent clinical studies

Etiology

Yoshida S, Kido J, Sawada T, Momosaki K, Sugawara K, Matsumoto S, Endo F, Nakamura K
Orphanet J Rare Dis 2020 Aug 26;15(1):220. doi: 10.1186/s13023-020-01494-6. PMID: 32843101Free PMC Article
Barman HA, Özcan S, Atıcı A, Özgökçe C, Öztürk A, Kafalı AE, Çakar NE, Tavşanlı ME, Küçük M, Şahin I, Okuyan E
Anatol J Cardiol 2020 Jan;23(2):79-85. doi: 10.14744/AnatolJCardiol.2019.84782. PMID: 32011328Free PMC Article
Varela P, Mastroianni Kirsztajn G, Motta FL, Martin RP, Turaça LT, Ferrer HLF, Gomes CP, Nicolicht P, Mara Marins M, Pessoa JG, Braga MC, D'Almeida V, Martins AM, Pesquero JB
Orphanet J Rare Dis 2020 Jan 29;15(1):30. doi: 10.1186/s13023-019-1274-3. PMID: 31996269Free PMC Article
Olivieri LJ, Kellman P, McCarter RJ, Cross RR, Hansen MS, Spurney CF
J Cardiovasc Magn Reson 2016 Oct 28;18(1):72. doi: 10.1186/s12968-016-0292-8. PMID: 27788681Free PMC Article
de Winter CF, van Dijk F, Stolker JJ, Hennekam RC
J Intellect Disabil Res 2009 Apr;53(4):319-28. Epub 2009 Feb 2 doi: 10.1111/j.1365-2788.2009.01156.x. PMID: 19187102

Diagnosis

Dinu IR, Firu ŞG
Rom J Morphol Embryol 2021 Jan-Mar;62(1):5-11. doi: 10.47162/RJME.62.1.01. PMID: 34609404Free PMC Article
Dowling P, Murphy S, Zweyer M, Raucamp M, Swandulla D, Ohlendieck K
Expert Rev Mol Diagn 2019 Aug;19(8):739-755. Epub 2019 Aug 2 doi: 10.1080/14737159.2019.1648214. PMID: 31359811
Germain DP
Orphanet J Rare Dis 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. PMID: 21092187Free PMC Article
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031
Mehndiratta MM, Rao KB, Garg S, Pandey S
J Assoc Physicians India 2005 Jun;53:562-3. PMID: 16121813

Therapy

Umer M, Motwani M, Jefferies JL, Nagueh SF, Kalra DK
Curr Probl Cardiol 2023 Jan;48(1):101439. Epub 2022 Oct 4 doi: 10.1016/j.cpcardiol.2022.101439. PMID: 36202174
Dinu IR, Firu ŞG
Rom J Morphol Embryol 2021 Jan-Mar;62(1):5-11. doi: 10.47162/RJME.62.1.01. PMID: 34609404Free PMC Article
Jarmin S, Kymalainen H, Popplewell L, Dickson G
Expert Opin Biol Ther 2014 Feb;14(2):209-30. Epub 2013 Dec 6 doi: 10.1517/14712598.2014.866087. PMID: 24308293
Germain DP
Orphanet J Rare Dis 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. PMID: 21092187Free PMC Article
Germain DP
Expert Opin Investig Drugs 2002 Oct;11(10):1467-76. doi: 10.1517/13543784.11.10.1467. PMID: 12387706

Prognosis

Dowling P, Murphy S, Zweyer M, Raucamp M, Swandulla D, Ohlendieck K
Expert Rev Mol Diagn 2019 Aug;19(8):739-755. Epub 2019 Aug 2 doi: 10.1080/14737159.2019.1648214. PMID: 31359811
Olivieri LJ, Kellman P, McCarter RJ, Cross RR, Hansen MS, Spurney CF
J Cardiovasc Magn Reson 2016 Oct 28;18(1):72. doi: 10.1186/s12968-016-0292-8. PMID: 27788681Free PMC Article
Bayram E, Topcu Y, Akinci G, Hiz S, Cakmakci H
Ann Saudi Med 2013 Jan-Feb;33(1):73-5. doi: 10.5144/0256-4947.2012.01.7.1545. PMID: 22750766Free PMC Article
Chiarelli LR, Morera SM, Bianchi P, Fermo E, Zanella A, Galizzi A, Valentini G
PLoS One 2012;7(2):e32065. Epub 2012 Feb 14 doi: 10.1371/journal.pone.0032065. PMID: 22348148Free PMC Article
Sawaya RA, Mourad FH, Najjar S, Mikati M, Raymond GV
Eur Neurol 1999;42(3):169-72. doi: 10.1159/000008093. PMID: 10529544

Clinical prediction guides

Huzmeli C, Candan F, Alaygut D, Bagci G, Akkaya L, Bagci B, Sozmen EY, Kurtulgan HK, Kayatas M
Biochem Genet 2016 Aug;54(4):448-456. Epub 2016 Apr 22 doi: 10.1007/s10528-016-9731-3. PMID: 27105876
Bayram E, Topcu Y, Akinci G, Hiz S, Cakmakci H
Ann Saudi Med 2013 Jan-Feb;33(1):73-5. doi: 10.5144/0256-4947.2012.01.7.1545. PMID: 22750766Free PMC Article
Chiarelli LR, Morera SM, Bianchi P, Fermo E, Zanella A, Galizzi A, Valentini G
PLoS One 2012;7(2):e32065. Epub 2012 Feb 14 doi: 10.1371/journal.pone.0032065. PMID: 22348148Free PMC Article
Germain DP
Expert Opin Investig Drugs 2002 Oct;11(10):1467-76. doi: 10.1517/13543784.11.10.1467. PMID: 12387706
Coude FX, Ogier H, Charpentier C, Thomassin G, Checoury A, Amedee-Manesme O, Saudubray JM, Frezal J
Hum Genet 1981;59(3):263-5. doi: 10.1007/BF00283677. PMID: 7199025

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