Aceruloplasminemia
ORPHA:48818DiseaseAutosomal recessiveAdult, Elderly
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)6
HP:0000707Abnormality of the nervous system
HP:0003281Increased circulating ferritin concentration
HP:0004840Hypochromic microcytic anemia
HP:0005505Refractory anemia
HP:0012379Abnormal enzyme/coenzyme activity
HP:0025498Aceruloplasminemia
Частый (30–79%)16
HP:0000546Retinal degeneration
HP:0000608Macular degeneration
HP:0000819Diabetes mellitus
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001332Dystonia
HP:0002066Gait ataxia
HP:0002070Limb ataxia
HP:0002072Chorea
HP:0004305Involuntary movements
HP:0007703Abnormality of retinal pigmentation
HP:0010837Decreased circulating ceruloplasmin concentration
HP:0011967Decreased circulating copper concentration
HP:0012465Elevated hepatic iron concentration
HP:0040303Decreased serum iron
HP:0100543Cognitive impairment
Периодический (5–29%)17
HP:0000273Facial grimacing
HP:0000473Torticollis
HP:0000639Nystagmus
HP:0000643Blepharospasm
HP:0000741Apathy
HP:0001300Parkinsonism
HP:0001337Tremor
HP:0001635Congestive heart failure
HP:0002063Rigidity
HP:0002304Akinesia
HP:0002354Memory impairment
HP:0010994Abnormal corpus striatum morphology
HP:0012090Abnormal pancreas morphology
HP:0012179Craniofacial dystonia
HP:0012675Iron accumulation in brain
HP:0012696Abnormal thalamic MRI signal intensity
HP:0100321Abnormality of the dentate nucleus
Исключён (0%)2
HP:0001394Cirrhosis
HP:0001395Hepatic fibrosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Japan | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.09 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)