/hereditary hyperferritinemia with congenital cataracts

hereditary hyperferritinemia with congenital cataracts

Rare Disease

MONDO:0010952

Also Known As

Bonneau-Beaumont syndromeHHCSHyperferritinemia Cataract Syndromehereditary hyperferritinemia-cataract syndromeHRFTCcataract-hyperferritinemia syndromehereditary hyperferritinemia cataract syndromehyperferritinemia cataract syndromehyperferritinemia with or without cataracthyperferritinemia, hereditary, with congenital cataractshyperferritinemia-cataract syndrome

Definition

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.