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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

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
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T, Buxton C, Dennis G, Forrester N, Smith D, Lunt P, Burton-Jones S
BMC Med Genet 2015 Sep 21;16:84. doi: 10.1186/s12881-015-0224-8. PMID: 26392352Free PMC Article

Recent clinical studies

Etiology

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
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
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
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T, Buxton C, Dennis G, Forrester N, Smith D, Lunt P, Burton-Jones S
BMC Med Genet 2015 Sep 21;16:84. doi: 10.1186/s12881-015-0224-8. PMID: 26392352Free PMC Article

Diagnosis

The functional impact of 1,570 individual amino acid substitutions in human OTC.
Lo RS, Cromie GA, Tang M, Teng K, Owens K, Sirr A, Kutz JN, Morizono H, Caldovic L, Ah Mew N, Gropman A, Dudley AM
Am J Hum Genet 2023 May 4;110(5):863-879. doi: 10.1016/j.ajhg.2023.03.019. PMID: 37146589Free 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
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

Therapy

Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency.
Guillén-Yunta M, Valcárcel-Hernández V, García-Aldea Á, Soria G, García-Verdugo JM, Montero-Pedrazuela A, Guadaño-Ferraz A
Fluids Barriers CNS 2023 Nov 3;20(1):79. doi: 10.1186/s12987-023-00481-w. PMID: 37924081Free PMC Article
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
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
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T, Buxton C, Dennis G, Forrester N, Smith D, Lunt P, Burton-Jones S
BMC Med Genet 2015 Sep 21;16:84. doi: 10.1186/s12881-015-0224-8. PMID: 26392352Free PMC Article
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

Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency.
Guillén-Yunta M, Valcárcel-Hernández V, García-Aldea Á, Soria G, García-Verdugo JM, Montero-Pedrazuela A, Guadaño-Ferraz A
Fluids Barriers CNS 2023 Nov 3;20(1):79. doi: 10.1186/s12987-023-00481-w. PMID: 37924081Free PMC Article
The functional impact of 1,570 individual amino acid substitutions in human OTC.
Lo RS, Cromie GA, Tang M, Teng K, Owens K, Sirr A, Kutz JN, Morizono H, Caldovic L, Ah Mew N, Gropman A, Dudley AM
Am J Hum Genet 2023 May 4;110(5):863-879. doi: 10.1016/j.ajhg.2023.03.019. PMID: 37146589Free 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
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T, Buxton C, Dennis G, Forrester N, Smith D, Lunt P, Burton-Jones S
BMC Med Genet 2015 Sep 21;16:84. doi: 10.1186/s12881-015-0224-8. PMID: 26392352Free PMC Article

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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