Hyperferritinemia with or Without Cataract (HRFTC)

External Ids:

MedlinePlus Genetics: ⁴² 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.

MalaCards based summary: Hyperferritinemia with or Without Cataract, also known as hyperferritinemia-cataract syndrome, is related to cataract and neurodegeneration with brain iron accumulation 3. An important gene associated with Hyperferritinemia with or Without Cataract is FTL (Ferritin Light Chain), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Glucose / Energy Metabolism. Affiliated tissues include eye, liver and myeloid, and related phenotypes are cataract and abnormality of metabolism/homeostasis

Disease Ontology: ¹¹ A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has material basis in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.

Orphanet: ⁵⁸ Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

GARD: ¹⁹ The severity of the condition can vary significantly from person to person, even among members of the same family. Hyperferritinemia cataract syndrome is caused by changes in the FTL gene and is inherited in an autosomal dominant manner.

UniProtKB/Swiss-Prot: ⁷³ An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Hyperferritinemia with or Without Cataract