hemochromatosis type 1

info · Genetic · ICD-10: E83.1

A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.

Signs and symptoms

Hypogonadotropic hypogonadism
Pleural effusion
Alopecia
Elevated circulating iron concentration
Amenorrhea
Cirrhosis
Hepatomegaly
Arrhythmia
Diabetes mellitus
Osteoporosis

Also known as: HFE1; symptomatic form of HFE-related hereditary hemochromatosis; symptomatic form of classic hemochromatosis; symptomatic form of hemochromatosis type 1