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Disorder of copper metabolism

MedGen UID:
507647
•Concept ID:
C0012714
•
Disease or Syndrome
Synonyms: Copper metabolism disorder; copper Transport disorders; disorder of copper metabolism; inborn cellular copper ion homeostasis disorder; inborn error of cellular copper ion homeostasis; rare inborn error of cellular copper ion homeostasis
SNOMED CT: Disorder of copper metabolism (79886009); Copper metabolism disorder (79886009)
 
Monarch Initiative: MONDO:0017762
Orphanet: ORPHA309839

Definition

An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder of copper metabolism
Follow this link to review classifications for Disorder of copper metabolism in Orphanet.

Professional guidelines

PubMed

The Role of Zinc in the Treatment of Wilson's Disease.
Avan A, Członkowska A, Gaskin S, Granzotto A, Sensi SL, Hoogenraad TU
Int J Mol Sci 2022 Aug 18;23(16) doi: 10.3390/ijms23169316. PMID: 36012580Free PMC Article
Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver.
Shribman S, Marjot T, Sharif A, Vimalesvaran S, Ala A, Alexander G, Dhawan A, Dooley J, Gillett GT, Kelly D, McNeill A, Warner TT, Wheater V, Griffiths W, Bandmann O; British Association for the Study of the Liver Rare Diseases Special Interest Group
Lancet Gastroenterol Hepatol 2022 Jun;7(6):560-575. Epub 2022 Apr 13 doi: 10.1016/S2468-1253(22)00004-8. PMID: 35429442
Wilson's disease- management and long term outcomes.
Socha P, Czlonkowska A, Janczyk W, Litwin T
Best Pract Res Clin Gastroenterol 2022 Feb-Mar;56-57:101768. Epub 2021 Oct 12 doi: 10.1016/j.bpg.2021.101768. PMID: 35331405

Recent clinical studies

Etiology

The Role of Zinc in the Treatment of Wilson's Disease.
Avan A, Członkowska A, Gaskin S, Granzotto A, Sensi SL, Hoogenraad TU
Int J Mol Sci 2022 Aug 18;23(16) doi: 10.3390/ijms23169316. PMID: 36012580Free PMC Article
Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver.
Shribman S, Marjot T, Sharif A, Vimalesvaran S, Ala A, Alexander G, Dhawan A, Dooley J, Gillett GT, Kelly D, McNeill A, Warner TT, Wheater V, Griffiths W, Bandmann O; British Association for the Study of the Liver Rare Diseases Special Interest Group
Lancet Gastroenterol Hepatol 2022 Jun;7(6):560-575. Epub 2022 Apr 13 doi: 10.1016/S2468-1253(22)00004-8. PMID: 35429442
Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.
Zhang S, Yang W, Li X, Pei P, Dong T, Yang Y, Zhang J
Transl Neurodegener 2022 Feb 28;11(1):13. doi: 10.1186/s40035-022-00287-0. PMID: 35220961Free PMC Article
Wilson disease in children and adolescents.
Fernando M, van Mourik I, Wassmer E, Kelly D
Arch Dis Child 2020 May;105(5):499-505. Epub 2020 Jan 23 doi: 10.1136/archdischild-2018-315705. PMID: 31974298
Wilson disease: more than meets the eye.
Kelly C, Pericleous M
Postgrad Med J 2018 Jun;94(1112):335-347. Epub 2018 Feb 15 doi: 10.1136/postgradmedj-2017-135381. PMID: 29449431

Diagnosis

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.
Zhang S, Yang W, Li X, Pei P, Dong T, Yang Y, Zhang J
Transl Neurodegener 2022 Feb 28;11(1):13. doi: 10.1186/s40035-022-00287-0. PMID: 35220961Free PMC Article
Wilson's disease: update on pathogenesis, biomarkers and treatments.
Shribman S, Poujois A, Bandmann O, Czlonkowska A, Warner TT
J Neurol Neurosurg Psychiatry 2021 Oct;92(10):1053-1061. Epub 2021 Aug 2 doi: 10.1136/jnnp-2021-326123. PMID: 34341141
Wilson disease.
Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, Rybakowski JK, Weiss KH, Schilsky ML
Nat Rev Dis Primers 2018 Sep 6;4(1):21. doi: 10.1038/s41572-018-0018-3. PMID: 30190489Free PMC Article
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Dong Y, Ni W, Chen WJ, Wan B, Zhao GX, Shi ZQ, Zhang Y, Wang N, Yu L, Xu JF, Wu ZY
Theranostics 2016;6(5):638-49. Epub 2016 Mar 3 doi: 10.7150/thno.14596. PMID: 27022412Free PMC Article
Menkes disease.
Tümer Z, Møller LB
Eur J Hum Genet 2010 May;18(5):511-8. Epub 2009 Nov 4 doi: 10.1038/ejhg.2009.187. PMID: 19888294Free PMC Article

Therapy

The Role of Zinc in the Treatment of Wilson's Disease.
Avan A, Członkowska A, Gaskin S, Granzotto A, Sensi SL, Hoogenraad TU
Int J Mol Sci 2022 Aug 18;23(16) doi: 10.3390/ijms23169316. PMID: 36012580Free PMC Article
Wilson disease.
Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, Rybakowski JK, Weiss KH, Schilsky ML
Nat Rev Dis Primers 2018 Sep 6;4(1):21. doi: 10.1038/s41572-018-0018-3. PMID: 30190489Free PMC Article
Wilson's disease.
Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML
Lancet 2007 Feb 3;369(9559):397-408. doi: 10.1016/S0140-6736(07)60196-2. PMID: 17276780
Wilson disease.
El-Youssef M
Mayo Clin Proc 2003 Sep;78(9):1126-36. doi: 10.4065/78.9.1126. PMID: 12962167
Wilson's disease.
Loudianos G, Gitlin JD
Semin Liver Dis 2000;20(3):353-64. doi: 10.1055/s-2000-9389. PMID: 11076401

Prognosis

ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.
Wallace DF, Dooley JS
Hum Genet 2020 Aug;139(8):1065-1075. Epub 2020 Apr 4 doi: 10.1007/s00439-020-02161-3. PMID: 32248359
The global prevalence of Wilson disease from next-generation sequencing data.
Gao J, Brackley S, Mann JP
Genet Med 2019 May;21(5):1155-1163. Epub 2018 Sep 26 doi: 10.1038/s41436-018-0309-9. PMID: 30254379
Wilson disease.
Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, Rybakowski JK, Weiss KH, Schilsky ML
Nat Rev Dis Primers 2018 Sep 6;4(1):21. doi: 10.1038/s41572-018-0018-3. PMID: 30190489Free PMC Article
Wilson's Disease in China.
Xie JJ, Wu ZY
Neurosci Bull 2017 Jun;33(3):323-330. Epub 2017 Mar 6 doi: 10.1007/s12264-017-0107-4. PMID: 28265897Free PMC Article
Diverse functional properties of Wilson disease ATP7B variants.
Huster D, Kühne A, Bhattacharjee A, Raines L, Jantsch V, Noe J, Schirrmeister W, Sommerer I, Sabri O, Berr F, Mössner J, Stieger B, Caca K, Lutsenko S
Gastroenterology 2012 Apr;142(4):947-956.e5. Epub 2012 Jan 10 doi: 10.1053/j.gastro.2011.12.048. PMID: 22240481Free PMC Article

Clinical prediction guides

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.
Zhang S, Yang W, Li X, Pei P, Dong T, Yang Y, Zhang J
Transl Neurodegener 2022 Feb 28;11(1):13. doi: 10.1186/s40035-022-00287-0. PMID: 35220961Free PMC Article
Wilson's disease: update on pathogenesis, biomarkers and treatments.
Shribman S, Poujois A, Bandmann O, Czlonkowska A, Warner TT
J Neurol Neurosurg Psychiatry 2021 Oct;92(10):1053-1061. Epub 2021 Aug 2 doi: 10.1136/jnnp-2021-326123. PMID: 34341141
The global prevalence of Wilson disease from next-generation sequencing data.
Gao J, Brackley S, Mann JP
Genet Med 2019 May;21(5):1155-1163. Epub 2018 Sep 26 doi: 10.1038/s41436-018-0309-9. PMID: 30254379
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Dong Y, Ni W, Chen WJ, Wan B, Zhao GX, Shi ZQ, Zhang Y, Wang N, Yu L, Xu JF, Wu ZY
Theranostics 2016;6(5):638-49. Epub 2016 Mar 3 doi: 10.7150/thno.14596. PMID: 27022412Free PMC Article
Diverse functional properties of Wilson disease ATP7B variants.
Huster D, Kühne A, Bhattacharjee A, Raines L, Jantsch V, Noe J, Schirrmeister W, Sommerer I, Sabri O, Berr F, Mössner J, Stieger B, Caca K, Lutsenko S
Gastroenterology 2012 Apr;142(4):947-956.e5. Epub 2012 Jan 10 doi: 10.1053/j.gastro.2011.12.048. PMID: 22240481Free PMC Article

Recent systematic reviews

A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in China.
Xue Z, Chen H, Yu L, Jiang P
Pediatr Neurol 2023 Aug;145:135-147. Epub 2023 May 8 doi: 10.1016/j.pediatrneurol.2023.04.026. PMID: 37354629
Sleep disorders in Wilson disease: a systematic review and meta-analysis.
Xu J, Deng Q, Qin Q, Vgontzas AN, Basta M, Xie C, Li Y
J Clin Sleep Med 2020 Feb 15;16(2):219-230. Epub 2020 Jan 13 doi: 10.5664/jcsm.8170. PMID: 31992405Free PMC Article
Comparative effectiveness of common therapies for Wilson disease: A systematic review and meta-analysis of controlled studies.
Appenzeller-Herzog C, Mathes T, Heeres MLS, Weiss KH, Houwen RHJ, Ewald H
Liver Int 2019 Nov;39(11):2136-2152. Epub 2019 Jul 10 doi: 10.1111/liv.14179. PMID: 31206982
Epilepsy in children with Menkes disease: a systematic review of literature.
Verrotti A, Carelli A, Coppola G
J Child Neurol 2014 Dec;29(12):1757-64. Epub 2014 Jul 17 doi: 10.1177/0883073814541469. PMID: 25038123
Clinical efficacy and safety of Chinese herbal medicine for Wilson's disease: a systematic review of 9 randomized controlled trials.
Wang Y, Xie CL, Fu DL, Lu L, Lin Y, Dong QQ, Wang XT, Zheng GQ
Complement Ther Med 2012 Jun;20(3):143-54. Epub 2012 Jan 4 doi: 10.1016/j.ctim.2011.12.004. PMID: 22500664

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