Alkaptonuria
ORPHA:56DiseaseAutosomal recessiveAdult, Infancy
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)16
HP:0000364Hearing abnormality
HP:0000504Abnormality of vision
HP:0001000Abnormality of skin pigmentation
HP:0001369Arthritis
HP:0001373Joint dislocation
HP:0001386Joint swelling
HP:0001387Joint stiffness
HP:0001717Coronary artery calcification
HP:0002758Osteoarthritis
HP:0002829Arthralgia
HP:0003355Aminoaciduria
HP:0005645Intervertebral disk calcification
HP:0007400Irregular hyperpigmentation
HP:0030764Ochronosis
HP:0033704Elevated urinary homogentisic acid
HP:0100593Calcification of cartilage
Частый (30–79%)15
HP:0000024Prostatitis
HP:0000366Abnormality of the nose
HP:0000787Nephrolithiasis
HP:0001597Abnormality of the nail
HP:0001650Aortic valve stenosis
HP:0001654Abnormal heart valve morphology
HP:0003418Back pain
HP:0004380Aortic valve calcification
HP:0004382Mitral valve calcification
HP:0004690Thickened Achilles tendon
HP:0007832Pigmentation of the sclera
HP:0040319Dark urine
HP:0100550Tendon rupture
HP:0100773Cartilage destruction
HP:6000027Oil-drop brown pigmentation of the corneal limbus
Периодический (5–29%)19
HP:0000501Glaucoma
HP:0000821Hypothyroidism
HP:0000822Hypertension
HP:0001653Mitral regurgitation
HP:0001658Myocardial infarction
HP:0001718Mitral stenosis
HP:0001878Hemolytic anemia
HP:0002621Atherosclerosis
HP:0002650Scoliosis
HP:0002659Increased susceptibility to fractures
HP:0004349Reduced bone mineral density
HP:0004942Aortic aneurysm
HP:0007906Ocular hypertension
HP:0011034Amyloidosis
HP:0011982Black pigment gallstones
HP:0012119Methemoglobinemia
HP:0025612Corneal astigmatism
HP:0034882Prostatic calculus
HP:6000025Dark cerumen
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.15 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | France | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 | United States | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | United States | Class only |
| Prevalence at birth | 1-9 / 100 000 | 5.3 | Slovakia | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Slovakia | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)