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Decreased circulating hepcidin concentration

MedGen UID:
1643751
Concept ID:
C4703591
Finding
Synonym: Decreased hepcidin level
 
HPO: HP:0031876

Definition

Concentration of hepcidin in the blood circulation below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating hepcidin concentration

Conditions with this feature

Ferro-cerebro-cutaneous syndrome
MedGen UID:
1658844
Concept ID:
C4751570
Disease or Syndrome
A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth.

Recent clinical studies

Etiology

Satué K, Fazio E, La Fauci D, Bruschetta G, Medica P
J Equine Vet Sci 2023 Aug;127:104827. Epub 2023 May 27 doi: 10.1016/j.jevs.2023.104827. PMID: 37247748
Kathamuthu GR, Rajamanickam A, Sridhar R, Baskaran D, Babu S
Front Immunol 2022;13:999614. Epub 2022 Oct 20 doi: 10.3389/fimmu.2022.999614. PMID: 36341407Free PMC Article
Ghanim H, Abuaysheh S, Hejna J, Green K, Batra M, Makdissi A, Chaudhuri A, Dandona P
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgaa057. PMID: 32044999
Loftus TJ, Mira JC, Miller ES, Kannan KB, Plazas JM, Delitto D, Stortz JA, Hagen JE, Parvataneni HK, Sadasivan KK, Brakenridge SC, Moore FA, Moldawer LL, Efron PA, Mohr AM
Am J Respir Crit Care Med 2018 Sep 1;198(5):629-638. doi: 10.1164/rccm.201712-2536OC. PMID: 29768025Free PMC Article
Suárez-Ortegón MF, Moreno M, Arbeláez A, Xifra G, Mosquera M, Moreno-Navarrete JM, Aguilar-de Plata C, Esteve E, Ricart W, Fernández-Real JM
Mol Nutr Food Res 2015 Dec;59(12):2460-70. Epub 2015 Oct 20 doi: 10.1002/mnfr.201500310. PMID: 26394887

Diagnosis

Kathamuthu GR, Rajamanickam A, Sridhar R, Baskaran D, Babu S
Front Immunol 2022;13:999614. Epub 2022 Oct 20 doi: 10.3389/fimmu.2022.999614. PMID: 36341407Free PMC Article
Ginzburg YZ
Hematology Am Soc Hematol Educ Program 2019 Dec 6;2019(1):327-336. doi: 10.1182/hematology.2019000035. PMID: 31808893Free PMC Article
Jankowska EA, Malyszko J, Ardehali H, Koc-Zorawska E, Banasiak W, von Haehling S, Macdougall IC, Weiss G, McMurray JJ, Anker SD, Gheorghiade M, Ponikowski P
Eur Heart J 2013 Mar;34(11):827-34. Epub 2012 Nov 23 doi: 10.1093/eurheartj/ehs377. PMID: 23178646Free PMC Article
Troutt JS, Rudling M, Persson L, Ståhle L, Angelin B, Butterfield AM, Schade AE, Cao G, Konrad RJ
Clin Chem 2012 Aug;58(8):1225-32. Epub 2012 Jun 7 doi: 10.1373/clinchem.2012.186866. PMID: 22679180
Luque-Ramírez M, Álvarez-Blasco F, Alpañés M, Escobar-Morreale HF
J Clin Endocrinol Metab 2011 Mar;96(3):846-52. Epub 2011 Jan 5 doi: 10.1210/jc.2010-2211. PMID: 21209031

Therapy

Koury MJ, Agarwal R, Chertow GM, Eckardt KU, Fishbane S, Ganz T, Haase VH, Hanudel MR, Parfrey PS, Pergola PE, Roy-Chaudhury P, Tumlin JA, Anders R, Farag YMK, Luo W, Minga T, Solinsky C, Vargo DL, Winkelmayer WC
Am J Hematol 2022 Sep;97(9):1178-1188. Epub 2022 Jul 15 doi: 10.1002/ajh.26644. PMID: 35751858Free PMC Article
Bjørklund G, Peana M, Pivina L, Dosa A, Aaseth J, Semenova Y, Chirumbolo S, Medici S, Dadar M, Costea DO
Biomolecules 2021 Apr 21;11(5) doi: 10.3390/biom11050613. PMID: 33918997Free PMC Article
Ghanim H, Abuaysheh S, Hejna J, Green K, Batra M, Makdissi A, Chaudhuri A, Dandona P
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgaa057. PMID: 32044999
Loftus TJ, Mira JC, Miller ES, Kannan KB, Plazas JM, Delitto D, Stortz JA, Hagen JE, Parvataneni HK, Sadasivan KK, Brakenridge SC, Moore FA, Moldawer LL, Efron PA, Mohr AM
Am J Respir Crit Care Med 2018 Sep 1;198(5):629-638. doi: 10.1164/rccm.201712-2536OC. PMID: 29768025Free PMC Article
Suárez-Ortegón MF, Moreno M, Arbeláez A, Xifra G, Mosquera M, Moreno-Navarrete JM, Aguilar-de Plata C, Esteve E, Ricart W, Fernández-Real JM
Mol Nutr Food Res 2015 Dec;59(12):2460-70. Epub 2015 Oct 20 doi: 10.1002/mnfr.201500310. PMID: 26394887

Prognosis

Wojciechowska M, Wisniewski OW, Kolodziejski P, Krauss H
J Physiol Pharmacol 2021 Feb;72(1) Epub 2021 Jun 3 doi: 10.26402/jpp.2021.1.03. PMID: 34099582
Ghanim H, Abuaysheh S, Hejna J, Green K, Batra M, Makdissi A, Chaudhuri A, Dandona P
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgaa057. PMID: 32044999
Rametta R, Dongiovanni P, Baselli GA, Pelusi S, Meroni M, Fracanzani AL, Busti F, Castagna A, Scarlini S, Corradini E, Pietrangelo A, Girelli D, Fargion S, Valenti L
Am J Hematol 2020 Feb;95(2):167-177. Epub 2019 Dec 16 doi: 10.1002/ajh.25679. PMID: 31724192
Jankowska EA, Malyszko J, Ardehali H, Koc-Zorawska E, Banasiak W, von Haehling S, Macdougall IC, Weiss G, McMurray JJ, Anker SD, Gheorghiade M, Ponikowski P
Eur Heart J 2013 Mar;34(11):827-34. Epub 2012 Nov 23 doi: 10.1093/eurheartj/ehs377. PMID: 23178646Free PMC Article
Luque-Ramírez M, Álvarez-Blasco F, Alpañés M, Escobar-Morreale HF
J Clin Endocrinol Metab 2011 Mar;96(3):846-52. Epub 2011 Jan 5 doi: 10.1210/jc.2010-2211. PMID: 21209031

Clinical prediction guides

Wojciechowska M, Wisniewski OW, Kolodziejski P, Krauss H
J Physiol Pharmacol 2021 Feb;72(1) Epub 2021 Jun 3 doi: 10.26402/jpp.2021.1.03. PMID: 34099582
Rametta R, Dongiovanni P, Baselli GA, Pelusi S, Meroni M, Fracanzani AL, Busti F, Castagna A, Scarlini S, Corradini E, Pietrangelo A, Girelli D, Fargion S, Valenti L
Am J Hematol 2020 Feb;95(2):167-177. Epub 2019 Dec 16 doi: 10.1002/ajh.25679. PMID: 31724192
Loftus TJ, Mira JC, Miller ES, Kannan KB, Plazas JM, Delitto D, Stortz JA, Hagen JE, Parvataneni HK, Sadasivan KK, Brakenridge SC, Moore FA, Moldawer LL, Efron PA, Mohr AM
Am J Respir Crit Care Med 2018 Sep 1;198(5):629-638. doi: 10.1164/rccm.201712-2536OC. PMID: 29768025Free PMC Article
Hennigar SR, McClung JP
J Nutr 2016 Nov;146(11):2167-2173. Epub 2016 Sep 21 doi: 10.3945/jn.116.237081. PMID: 27655758
Weiss G, Theurl I, Eder S, Koppelstaetter C, Kurz K, Sonnweber T, Kobold U, Mayer G
Eur J Clin Invest 2009 Oct;39(10):883-90. Epub 2009 Jun 26 doi: 10.1111/j.1365-2362.2009.02182.x. PMID: 19563467

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