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Isolated hyperferritinemia(HRFT)

MedGen UID:
892475
•Concept ID:
C3854388
•
Disease or Syndrome
Synonym: Hyperferritinemia
 
Gene (location): STAB1 (3p21.1)
 
Monarch Initiative: MONDO:0958237
OMIM®: 620729

Definition

Hyperferritinemia (HRFT) is an autosomal recessive condition characterized by increased serum ferritin levels in the absence of iron overload or other clinical symptoms (Monfrini et al., 2023). [from OMIM]

Clinical features

From HPO
Abnormal circulating iron concentration
MedGen UID:
808235
•Concept ID:
C0235760
•
Finding
The concentration of iron in the blood circulation is outside the limits of normal.
See: Feature record | Search on this feature
Elevated circulating hepatic transaminase concentration
MedGen UID:
116013
•Concept ID:
C0235996
•
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
See: Feature record | Search on this feature
Abnormal circulating ferritin concentration
MedGen UID:
808243
•Concept ID:
C0853228
•
Finding
A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.
See: Feature record | Search on this feature
Elevated circulating hepcidin concentration
MedGen UID:
1637596
•Concept ID:
C4703592
•
Finding
Concentration of hepcidin in the blood circulation above the upper limit of normal.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated hyperferritinemia

Professional guidelines

PubMed

Incidence and treatment of hemophagocytic lymphohistiocytosis in hospitalized children with Ehrlichia infection.
Cabler SS, Hogan PG, Fritz SA, Bednarski JJ, Hunstad DA
Pediatr Blood Cancer 2020 Oct;67(10):e28436. Epub 2020 Jul 24 doi: 10.1002/pbc.28436. PMID: 32706439

Recent clinical studies

Etiology

Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.
Nonnenmacher L, Langer T, Blessing H, Gabriel H, Buchwald HJ, Meneksedag C, Kohne E, Gencik M, Debatin KM, Cario H
Klin Padiatr 2011 Nov;223(6):346-51. Epub 2011 Oct 21 doi: 10.1055/s-0031-1287825. PMID: 22020773

Diagnosis

Hereditary Hyperferritinemia.
Piperno A, Pelucchi S, Mariani R
Int J Mol Sci 2023 Jan 29;24(3) doi: 10.3390/ijms24032560. PMID: 36768886Free PMC Article
Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.
Nonnenmacher L, Langer T, Blessing H, Gabriel H, Buchwald HJ, Meneksedag C, Kohne E, Gencik M, Debatin KM, Cario H
Klin Padiatr 2011 Nov;223(6):346-51. Epub 2011 Oct 21 doi: 10.1055/s-0031-1287825. PMID: 22020773
The hereditary hyperferritinemia-cataract syndrome: a family study.
Álvarez-Coca-González J, Moreno-Carralero MI, Martínez-Pérez J, Méndez M, García-Ros M, Morán-Jiménez MJ
Eur J Pediatr 2010 Dec;169(12):1553-5. Epub 2010 Jul 9 doi: 10.1007/s00431-010-1251-2. PMID: 20617342
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.
Hetet G, Devaux I, Soufir N, Grandchamp B, Beaumont C
Blood 2003 Sep 1;102(5):1904-10. Epub 2003 May 1 doi: 10.1182/blood-2003-02-0439. PMID: 12730114

Prognosis

Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.
Nonnenmacher L, Langer T, Blessing H, Gabriel H, Buchwald HJ, Meneksedag C, Kohne E, Gencik M, Debatin KM, Cario H
Klin Padiatr 2011 Nov;223(6):346-51. Epub 2011 Oct 21 doi: 10.1055/s-0031-1287825. PMID: 22020773
The hereditary hyperferritinemia-cataract syndrome: a family study.
Álvarez-Coca-González J, Moreno-Carralero MI, Martínez-Pérez J, Méndez M, García-Ros M, Morán-Jiménez MJ
Eur J Pediatr 2010 Dec;169(12):1553-5. Epub 2010 Jul 9 doi: 10.1007/s00431-010-1251-2. PMID: 20617342

Clinical prediction guides

Unexplained isolated hyperferritinemia without iron overload.
Ravasi G, Pelucchi S, Mariani R, Casati M, Greni F, Arosio C, Pelloni I, Majore S, Santambrogio P, Levi S, Piperno A
Am J Hematol 2017 Apr;92(4):338-343. Epub 2017 Feb 7 doi: 10.1002/ajh.24641. PMID: 28052375

Supplemental Content

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    Clinical resources

    Practice guidelines

    • PubMed
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    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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