HJV or HAMP-related hemochromatosis
ORPHA:79230· ICD-10 E83.1
Definition
An early-onset and most severe form of rare hemochromatosis characterized by the usual features of hemochromatosis accompanied by cardiomyopathy and hypogonadism.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood