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Decreased circulating ferritin concentration

MedGen UID:
66021
Concept ID:
C0241012
Finding
Synonym: Decreased serum ferritin
 
HPO: HP:0012343

Definition

Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. [from HPO]

Term Hierarchy

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

Conditions with this feature

Neuroferritinopathy
MedGen UID:
381211
Concept ID:
C1853578
Disease or Syndrome
Neuroferritinopathy is an adult-onset progressive movement disorder characterized by chorea or dystonia and speech and swallowing deficits. The movement disorder typically affects one or two limbs and progresses to become more generalized within 20 years of disease onset. When present, asymmetry in the movement abnormalities remains throughout the course of the disorder. Most individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia. Frontalis overactivity and orolingual dyskinesia are common. Cognitive deficits and behavioral issues become major problems with time.
L-ferritin deficiency
MedGen UID:
816420
Concept ID:
C3810090
Disease or Syndrome
A rare genetic haematologic disease characterised by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalised seizures, atypical restless leg syndrome, mild neuropsychologic impairment and progressive hair loss. Asymptomatic cases have also been reported.
Neurodegeneration with brain iron accumulation 9
MedGen UID:
1845761
Concept ID:
C5882740
Disease or Syndrome
Neurodegeneration with brain iron accumulation-9 (NBIA9) is characterized by global developmental delay apparent from infancy and progressive neurodegeneration of motor and cognitive skills. Affected individuals have delayed walking or inability to walk, spasticity with hyperreflexia, ataxia, dystonia, and poor or absent language. Additional more variable features include dysphagia, failure to thrive, poor growth, microcephaly, hypotonia, impaired vision, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, iron accumulation in the basal ganglia, thin corpus callosum, and pontocerebellar hypoplasia. The disorder can be classified as a neuroferritinopathy (see NBIA3, 606159) (Shieh et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).

Professional guidelines

PubMed

Kooistra EJ, Waalders NJB, Grondman I, Janssen NAF, de Nooijer AH, Netea MG, van de Veerdonk FL, Ewalds E, van der Hoeven JG, Kox M, Pickkers P; RCI-COVID-19 Study Group
Crit Care 2020 Dec 10;24(1):688. doi: 10.1186/s13054-020-03364-w. PMID: 33302991Free PMC Article
Miranda P, Gil-Santana L, Oliveira MG, Mesquita ED, Silva E, Rauwerdink A, Cobelens F, Oliveira MM, Andrade BB, Kritski A
PLoS One 2017;12(4):e0175278. Epub 2017 Apr 6 doi: 10.1371/journal.pone.0175278. PMID: 28384354Free PMC Article

Recent clinical studies

Etiology

Huang JK, Chuang YS, Wu PH, Tai CJ, Lin JR, Kuo MC, Chiu YW, Hsu PC, Wu MT, Salihovic S, Lin YT
Sci Total Environ 2023 Oct 20;896:165184. Epub 2023 Jun 28 doi: 10.1016/j.scitotenv.2023.165184. PMID: 37391133
Fu L, Long W, Liu T, Chen Y, Wu S, Li D, Liu K, Gao Y, Luo X
BMC Pediatr 2022 Nov 29;22(1):687. doi: 10.1186/s12887-022-03756-7. PMID: 36447149Free PMC Article
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
Beard J, Borel M, Peterson FJ
Am J Clin Nutr 1997 Jul;66(1):104-10. doi: 10.1093/ajcn/66.1.104. PMID: 9209176

Diagnosis

Huang JK, Chuang YS, Wu PH, Tai CJ, Lin JR, Kuo MC, Chiu YW, Hsu PC, Wu MT, Salihovic S, Lin YT
Sci Total Environ 2023 Oct 20;896:165184. Epub 2023 Jun 28 doi: 10.1016/j.scitotenv.2023.165184. PMID: 37391133
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
Comas F, Latorre J, Ortega F, Arnoriaga Rodríguez M, Lluch A, Sabater M, Rius F, Ribas X, Costas M, Ricart W, Lecube A, Fernández-Real JM, Moreno-Navarrete JM
Int J Obes (Lond) 2021 Feb;45(2):415-426. Epub 2020 Oct 10 doi: 10.1038/s41366-020-00696-z. PMID: 33040077
Kooistra EJ, Waalders NJB, Grondman I, Janssen NAF, de Nooijer AH, Netea MG, van de Veerdonk FL, Ewalds E, van der Hoeven JG, Kox M, Pickkers P; RCI-COVID-19 Study Group
Crit Care 2020 Dec 10;24(1):688. doi: 10.1186/s13054-020-03364-w. PMID: 33302991Free PMC Article
Fernández-Real JM, Puig J, Serrano M, Sabater M, Rubió A, Moreno-Navarrete JM, Fontan M, Casamitjana R, Xifra G, Ortega FJ, Salvador J, Frühbeck G, Ricart W
PLoS One 2013;8(3):e58961. Epub 2013 Mar 21 doi: 10.1371/journal.pone.0058961. PMID: 23555610Free PMC Article

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
Sonmez Ozkarakaya I, Celik B, Karakukcu C, Altuner Torun Y
J Trace Elem Med Biol 2021 May;65:126724. Epub 2021 Jan 23 doi: 10.1016/j.jtemb.2021.126724. PMID: 33550037
Kooistra EJ, Waalders NJB, Grondman I, Janssen NAF, de Nooijer AH, Netea MG, van de Veerdonk FL, Ewalds E, van der Hoeven JG, Kox M, Pickkers P; RCI-COVID-19 Study Group
Crit Care 2020 Dec 10;24(1):688. doi: 10.1186/s13054-020-03364-w. PMID: 33302991Free 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
Beard J, Borel M, Peterson FJ
Am J Clin Nutr 1997 Jul;66(1):104-10. doi: 10.1093/ajcn/66.1.104. PMID: 9209176

Prognosis

Fu L, Long W, Liu T, Chen Y, Wu S, Li D, Liu K, Gao Y, Luo X
BMC Pediatr 2022 Nov 29;22(1):687. doi: 10.1186/s12887-022-03756-7. PMID: 36447149Free PMC Article
Sonmez Ozkarakaya I, Celik B, Karakukcu C, Altuner Torun Y
J Trace Elem Med Biol 2021 May;65:126724. Epub 2021 Jan 23 doi: 10.1016/j.jtemb.2021.126724. PMID: 33550037
Comas F, Latorre J, Ortega F, Arnoriaga Rodríguez M, Lluch A, Sabater M, Rius F, Ribas X, Costas M, Ricart W, Lecube A, Fernández-Real JM, Moreno-Navarrete JM
Int J Obes (Lond) 2021 Feb;45(2):415-426. Epub 2020 Oct 10 doi: 10.1038/s41366-020-00696-z. PMID: 33040077
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
Beard J, Borel M, Peterson FJ
Am J Clin Nutr 1997 Jul;66(1):104-10. doi: 10.1093/ajcn/66.1.104. PMID: 9209176

Clinical prediction guides

Fu L, Long W, Liu T, Chen Y, Wu S, Li D, Liu K, Gao Y, Luo X
BMC Pediatr 2022 Nov 29;22(1):687. doi: 10.1186/s12887-022-03756-7. PMID: 36447149Free PMC Article
Comas F, Latorre J, Ortega F, Arnoriaga Rodríguez M, Lluch A, Sabater M, Rius F, Ribas X, Costas M, Ricart W, Lecube A, Fernández-Real JM, Moreno-Navarrete JM
Int J Obes (Lond) 2021 Feb;45(2):415-426. Epub 2020 Oct 10 doi: 10.1038/s41366-020-00696-z. PMID: 33040077
Kooistra EJ, Waalders NJB, Grondman I, Janssen NAF, de Nooijer AH, Netea MG, van de Veerdonk FL, Ewalds E, van der Hoeven JG, Kox M, Pickkers P; RCI-COVID-19 Study Group
Crit Care 2020 Dec 10;24(1):688. doi: 10.1186/s13054-020-03364-w. PMID: 33302991Free PMC Article
Nielsen VG, Pretorius E
Blood Coagul Fibrinolysis 2014 Dec;25(8):845-50. doi: 10.1097/MBC.0000000000000160. PMID: 24991945
Moos T
Dan Med Bull 2002 Nov;49(4):279-301. PMID: 12553165

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