Гемохроматоз, повязаний з TFR2
ORPHA:225123· ICD-10 E83.1· TFR2-related hemochromatosis
Визначення(English summary)
A form of rare hemochromatosis (HC) characterized by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Adult