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Hereditary hyperferritinemia with congenital cataracts(HHCS; HRFTC)

MedGen UID:
318812
Concept ID:
C1833213
Disease or Syndrome
Synonyms: Bonneau-Beaumont syndrome; Hereditary hyperferritinemia cataract syndrome; Hyperferritinemia cataract syndrome; HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
SNOMED CT: Hereditary hyperferritinemia-cataract syndrome (702398007); Hyperferritinemia cataract syndrome (702398007); Bonneau-Beaumont syndrome (702398007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): FTL (19q13.33)
 
Monarch Initiative: MONDO:0010952
OMIM®: 600886
Orphanet: ORPHA163

Definition

Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population. Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light.

Although the hyperferritinemia in this disorder does not usually cause any health problems other than cataracts, the elevated ferritin levels in the blood can be mistaken for a sign of certain liver disorders. These conditions result in excess iron in the body and may be treated by blood-drawing. However, individuals with hyperferritinemia-cataract syndrome do not have an excess of iron, and with repeated blood draws will develop reduced iron levels leading to a low number of red blood cells (anemia). Therefore, correct diagnosis of hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments or invasive test procedures such as liver biopsies. [from MedlinePlus Genetics]

Clinical features

From HPO
Increased circulating ferritin concentration
MedGen UID:
69130
Concept ID:
C0241013
Finding
Increased concentration of ferritin in the blood circulation.
Nuclear cataract
MedGen UID:
140274
Concept ID:
C0392557
Finding
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.
Pulverulent cataract
MedGen UID:
318793
Concept ID:
C1833118
Congenital Abnormality
A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary hyperferritinemia with congenital cataracts
Follow this link to review classifications for Hereditary hyperferritinemia with congenital cataracts in Orphanet.

Recent clinical studies

Etiology

Yang Y, Lin T, Kuang P, Chen X
Hematology 2021 Dec;26(1):896-903. doi: 10.1080/16078454.2021.1995111. PMID: 34789084
Kernan KF, Carcillo JA
Int Immunol 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. PMID: 28541437Free PMC Article
Katchunga PB, Baguma M, M'buyamba-Kabangu JR, Philippé J, Hermans MP, Delanghe J
Diabetes Metab Syndr 2013 Apr-Jun;7(2):112-5. Epub 2013 Mar 14 doi: 10.1016/j.dsx.2013.02.017. PMID: 23680252
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
Wussuki-Lior O, Abu-Horowitz A, Netzer I, Almer Z, Morad Y, Goldich Y, Yahalom V, Pras E, Pras E
Mol Vis 2011 Apr 24;17:1011-5. PMID: 21541272Free PMC Article

Diagnosis

Alvarenga AM, Silva NKD, Cançado RD, Carvalho LEMR, Santos PCJL
Einstein (Sao Paulo) 2022;20:eRC0076. Epub 2022 Oct 24 doi: 10.31744/einstein_journal/2022RC0076. PMID: 36287435Free PMC Article
Yang Y, Lin T, Kuang P, Chen X
Hematology 2021 Dec;26(1):896-903. doi: 10.1080/16078454.2021.1995111. PMID: 34789084
Celma Nos F, Hernández G, Ferrer-Cortès X, Hernandez-Rodriguez I, Navarro-Almenzar B, Fuster JL, Bermúdez Cortés M, Pérez-Montero S, Tornador C, Sanchez M
Int J Mol Sci 2021 May 21;22(11) doi: 10.3390/ijms22115451. PMID: 34064225Free PMC Article
Bardou-Jacquet E, Ben Ali Z, Beaumont-Epinette MP, Loreal O, Jouanolle AM, Brissot P
Clin Res Hepatol Gastroenterol 2014 Apr;38(2):143-54. Epub 2013 Dec 8 doi: 10.1016/j.clinre.2013.11.003. PMID: 24321703
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

Therapy

Krishnan S, Wu X, Kim S, McIntire K, Naini L, Hughes MD, Dawson R, Mave V, Gaikwad S, Sanchez J, Mendoza-Ticona A, Gonzales P, Comins K, Shenje J, Fontain SN, Omozoarhe A, Mohapi L, Lalloo UG, Garcia Ferreira AC, Mugah C, Harrington M, Shah NS, Hesseling AC, Churchyard G, Swindells S, Gupta A; AIDS Clinical Trials Group A5300/International Maternal Pediatric Adolescent AIDS Clinical Trials I2003 Protecting Households on Exposure to Newly Diagnosed Index Multidrug-resistant Tuberculosis Patients Feasibility Study Team* (Additional study group members are listed in the Acknowledgment section)
Clin Infect Dis 2023 Sep 18;77(6):892-900. doi: 10.1093/cid/ciad301. PMID: 37227925Free PMC Article
Bardou-Jacquet E, Ben Ali Z, Beaumont-Epinette MP, Loreal O, Jouanolle AM, Brissot P
Clin Res Hepatol Gastroenterol 2014 Apr;38(2):143-54. Epub 2013 Dec 8 doi: 10.1016/j.clinre.2013.11.003. PMID: 24321703

Prognosis

Krishnan S, Wu X, Kim S, McIntire K, Naini L, Hughes MD, Dawson R, Mave V, Gaikwad S, Sanchez J, Mendoza-Ticona A, Gonzales P, Comins K, Shenje J, Fontain SN, Omozoarhe A, Mohapi L, Lalloo UG, Garcia Ferreira AC, Mugah C, Harrington M, Shah NS, Hesseling AC, Churchyard G, Swindells S, Gupta A; AIDS Clinical Trials Group A5300/International Maternal Pediatric Adolescent AIDS Clinical Trials I2003 Protecting Households on Exposure to Newly Diagnosed Index Multidrug-resistant Tuberculosis Patients Feasibility Study Team* (Additional study group members are listed in the Acknowledgment section)
Clin Infect Dis 2023 Sep 18;77(6):892-900. doi: 10.1093/cid/ciad301. PMID: 37227925Free PMC Article
Kernan KF, Carcillo JA
Int Immunol 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. PMID: 28541437Free PMC Article
Tsantoula F, Kioumi A, Germenis AE, Speletas M
J Pediatr Hematol Oncol 2014 Jul;36(5):e304-6. doi: 10.1097/MPH.0b013e31829f3835. PMID: 24983587
Rosário C, Zandman-Goddard G, Meyron-Holtz EG, D'Cruz DP, Shoenfeld Y
BMC Med 2013 Aug 22;11:185. doi: 10.1186/1741-7015-11-185. PMID: 23968282Free PMC Article
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

Clinical prediction guides

Kernan KF, Carcillo JA
Int Immunol 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. PMID: 28541437Free PMC Article
Yazar S, Franchina M, Craig JE, Burdon KP, Mackey DA
Ophthalmic Genet 2017 Mar-Apr;38(2):171-174. Epub 2016 Apr 20 doi: 10.3109/13816810.2016.1164195. PMID: 27096259
Cosentino I, Zeri F, Swann PG, Majore S, Radio FC, Palumbo P, Grammatico P, Petitti V
Ophthalmic Genet 2016 Sep;37(3):318-22. Epub 2016 Feb 5 doi: 10.3109/13816810.2015.1059460. PMID: 26849797
Rosário C, Zandman-Goddard G, Meyron-Holtz EG, D'Cruz DP, Shoenfeld Y
BMC Med 2013 Aug 22;11:185. doi: 10.1186/1741-7015-11-185. PMID: 23968282Free PMC Article
Shekunov J, de Groen PC, Lindor NM, Klee GG, Aleff RA, Wieben ED, Mohney BG
J AAPOS 2011 Aug;15(4):356-61. doi: 10.1016/j.jaapos.2011.03.020. PMID: 21907119

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