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X-linked disease

MedGen UID:
222910
•Concept ID:
C1138434
•
Disease or Syndrome
Synonyms: Disease, X-Linked Genetic; Diseases, X-Linked Genetic; Genetic Disease, X-Linked; Genetic Diseases, X Chromosome Linked; Genetic Diseases, X Linked; Genetic Diseases, X-Chromosome Linked; Genetic Diseases, X-Linked; X Linked Genetic Diseases; X-Linked Genetic Disease; X-Linked Genetic Diseases
SNOMED CT: X-linked hereditary disease (128430005)
 
Monarch Initiative: MONDO:0000425

Definition

X-linked form of disease. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked disease

Professional guidelines

PubMed

Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued.
Politei J
Mol Genet Metab 2020 Aug;130(4):227-229. Epub 2020 Jun 6 doi: 10.1016/j.ymgme.2020.06.002. PMID: 32561366Free PMC Article
X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.
Turk BR, Theda C, Fatemi A, Moser AB
Int J Dev Neurosci 2020 Feb;80(1):52-72. Epub 2020 Jan 26 doi: 10.1002/jdn.10003. PMID: 31909500Free PMC Article
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.
Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Deschênes G, Lacombe D
Clin Genet 2019 Aug;96(2):107-117. Epub 2019 Jun 6 doi: 10.1111/cge.13546. PMID: 30941742Free PMC Article

Recent clinical studies

Etiology

Female carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapies.
Gocuk SA, Jolly JK, Edwards TL, Ayton LN
Prog Retin Eye Res 2023 Sep;96:101190. Epub 2023 Jul 3 doi: 10.1016/j.preteyeres.2023.101190. PMID: 37406879
The DMD gene and therapeutic approaches to restore dystrophin.
Fortunato F, Farnè M, Ferlini A
Neuromuscul Disord 2021 Oct;31(10):1013-1020. doi: 10.1016/j.nmd.2021.08.004. PMID: 34736624
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.
Wade EM, Halliday BJ, Jenkins ZA, O'Neill AC, Robertson SP
Hum Mutat 2020 May;41(5):865-883. Epub 2020 Mar 11 doi: 10.1002/humu.24002. PMID: 32108395
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.
Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Deschênes G, Lacombe D
Clin Genet 2019 Aug;96(2):107-117. Epub 2019 Jun 6 doi: 10.1111/cge.13546. PMID: 30941742Free PMC Article
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR
N Engl J Med 2017 Jan 5;376(1):21-31. Epub 2016 Dec 7 doi: 10.1056/NEJMoa1516767. PMID: 27959697Free PMC Article

Diagnosis

Emerging therapies for Duchenne muscular dystrophy.
Markati T, Oskoui M, Farrar MA, Duong T, Goemans N, Servais L
Lancet Neurol 2022 Sep;21(9):814-829. Epub 2022 Jul 15 doi: 10.1016/S1474-4422(22)00125-9. PMID: 35850122
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA
Prog Retin Eye Res 2021 May;82:100898. Epub 2020 Aug 26 doi: 10.1016/j.preteyeres.2020.100898. PMID: 32860923
X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.
Turk BR, Theda C, Fatemi A, Moser AB
Int J Dev Neurosci 2020 Feb;80(1):52-72. Epub 2020 Jan 26 doi: 10.1002/jdn.10003. PMID: 31909500Free PMC Article
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.
Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Deschênes G, Lacombe D
Clin Genet 2019 Aug;96(2):107-117. Epub 2019 Jun 6 doi: 10.1111/cge.13546. PMID: 30941742Free PMC Article
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM
N Engl J Med 2013 Oct 17;369(16):1502-11. Epub 2013 Oct 2 doi: 10.1056/NEJMoa1306555. PMID: 24088041Free PMC Article

Therapy

Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions.
Fortunato F, Ferlini A
J Neuromuscul Dis 2023;10(6):987-1002. doi: 10.3233/JND-221666. PMID: 37545256Free PMC Article
Emerging therapies for Duchenne muscular dystrophy.
Markati T, Oskoui M, Farrar MA, Duong T, Goemans N, Servais L
Lancet Neurol 2022 Sep;21(9):814-829. Epub 2022 Jul 15 doi: 10.1016/S1474-4422(22)00125-9. PMID: 35850122
Kidney Transplant in Fabry Disease: A Revision of the Literature.
Capelli I, Aiello V, Gasperoni L, Comai G, Corradetti V, Ravaioli M, Biagini E, Graziano C, La Manna G
Medicina (Kaunas) 2020 Jun 10;56(6) doi: 10.3390/medicina56060284. PMID: 32532136Free PMC Article
Have humans lost control: The elusive X-controlling element.
Peeters SB, Yang C, Brown CJ
Semin Cell Dev Biol 2016 Aug;56:71-77. Epub 2016 Feb 3 doi: 10.1016/j.semcdb.2016.01.044. PMID: 26849907
Duchenne muscular dystrophy.
Sussman M
J Am Acad Orthop Surg 2002 Mar-Apr;10(2):138-51. doi: 10.5435/00124635-200203000-00009. PMID: 11929208

Prognosis

X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.
Viggiano E, Politano L
Int J Mol Sci 2021 Jul 17;22(14) doi: 10.3390/ijms22147663. PMID: 34299283Free PMC Article
DNA methylation impact on Fabry disease.
Di Risi T, Vinciguerra R, Cuomo M, Della Monica R, Riccio E, Cocozza S, Imbriaco M, Duro G, Pisani A, Chiariotti L
Clin Epigenetics 2021 Feb 2;13(1):24. doi: 10.1186/s13148-021-01019-3. PMID: 33531072Free PMC Article
Have humans lost control: The elusive X-controlling element.
Peeters SB, Yang C, Brown CJ
Semin Cell Dev Biol 2016 Aug;56:71-77. Epub 2016 Feb 3 doi: 10.1016/j.semcdb.2016.01.044. PMID: 26849907
Lowe syndrome.
Loi M
Orphanet J Rare Dis 2006 May 18;1:16. doi: 10.1186/1750-1172-1-16. PMID: 16722554Free PMC Article
Duchenne muscular dystrophy.
Sussman M
J Am Acad Orthop Surg 2002 Mar-Apr;10(2):138-51. doi: 10.5435/00124635-200203000-00009. PMID: 11929208

Clinical prediction guides

X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.
Viggiano E, Politano L
Int J Mol Sci 2021 Jul 17;22(14) doi: 10.3390/ijms22147663. PMID: 34299283Free PMC Article
DNA methylation impact on Fabry disease.
Di Risi T, Vinciguerra R, Cuomo M, Della Monica R, Riccio E, Cocozza S, Imbriaco M, Duro G, Pisani A, Chiariotti L
Clin Epigenetics 2021 Feb 2;13(1):24. doi: 10.1186/s13148-021-01019-3. PMID: 33531072Free PMC Article
Familial hematuria: A review.
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR
N Engl J Med 2017 Jan 5;376(1):21-31. Epub 2016 Dec 7 doi: 10.1056/NEJMoa1516767. PMID: 27959697Free PMC Article
Have humans lost control: The elusive X-controlling element.
Peeters SB, Yang C, Brown CJ
Semin Cell Dev Biol 2016 Aug;56:71-77. Epub 2016 Feb 3 doi: 10.1016/j.semcdb.2016.01.044. PMID: 26849907

Recent systematic reviews

CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.
Della Vecchia S, Lopergolo D, Trovato R, Pasquariello R, Ferrari AR, Bartolini E
Seizure 2023 Jan;104:32-37. Epub 2022 Nov 29 doi: 10.1016/j.seizure.2022.11.014. PMID: 36476360
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2016 Feb 5;2(2):CD008185. doi: 10.1002/14651858.CD008185.pub4. PMID: 26845288Free PMC Article
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2014 Jan 8;(1):CD008185. doi: 10.1002/14651858.CD008185.pub3. PMID: 24399699
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2011 Nov 9;(11):CD008185. doi: 10.1002/14651858.CD008185.pub2. PMID: 22071845

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