Symptomatic form of HFE-related hemochromatosis
ORPHA:465508DiseaseAutosomal recessiveAdult
Ассоциированные гены2
Фенотипы (HPO)44
Очень частый (80–99%)4
HP:0000953Hyperpigmentation of the skin
HP:0003281Increased circulating ferritin concentration
HP:0011031Abnormality of iron homeostasis
HP:0012463Elevated transferrin saturation
Частый (30–79%)7
HP:0002027Abdominal pain
HP:0002240Hepatomegaly
HP:0003040Arthropathy
HP:0003074Hyperglycemia
HP:0003199Decreased muscle mass
HP:0007574Generalized bronze hyperpigmentation
HP:0012378Fatigue
Периодический (5–29%)30
HP:0000029Testicular atrophy
HP:0000044Hypogonadotropic hypogonadism
HP:0000141Amenorrhea
HP:0000771Gynecomastia
HP:0000789Infertility
HP:0000819Diabetes mellitus
HP:0000821Hypothyroidism
HP:0000939Osteoporosis
HP:0001254Lethargy
HP:0001324Muscle weakness
HP:0001369Arthritis
HP:0001386Joint swelling
HP:0001387Joint stiffness
HP:0001394Cirrhosis
HP:0001402Hepatocellular carcinoma
HP:0001409Portal hypertension
HP:0001635Congestive heart failure
HP:0001638Cardiomyopathy
HP:0001640Cardiomegaly
HP:0001744Splenomegaly
HP:0001824Weight loss
HP:0002829Arthralgia
HP:0005198Stiff interphalangeal joints
HP:0009830Peripheral neuropathy
HP:0011911Abnormality of metacarpophalangeal joint
HP:0030848Elevated jugular venous pressure
HP:0040171Decreased serum testosterone concentration
HP:0046504Decreased libido
HP:0100626Chronic hepatic failure
HP:0100639Erectile dysfunction
Очень редкий (1–4%)3
HP:0000741Apathy
HP:0011675Arrhythmia
HP:0030153Cholangiocarcinoma
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)