Neuroferritinopathy
ORPHA:157846DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)5
HP:0001332Dystonia
HP:0002134Abnormality of the basal ganglia
HP:0012343Decreased serum ferritin
HP:0012675Iron accumulation in brain
HP:0100543Cognitive impairment
Частый (30–79%)19
HP:0000338Hypomimic face
HP:0000712Emotional lability
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001618Dysphonia
HP:0002015Dysphagia
HP:0002067Bradykinesia
HP:0002072Chorea
HP:0002310Orofacial dyskinesia
HP:0002339Abnormal caudate nucleus morphology
HP:0002454Eye of the tiger anomaly of globus pallidus
HP:0004305Involuntary movements
HP:0004373Focal dystonia
HP:0012678Iron accumulation in substantia nigra
HP:0012690T2 hypointense thalamus
HP:0012696Abnormal thalamic MRI signal intensity
HP:0031959Leg dystonia
HP:0031982Abnormal putamen morphology
HP:0100321Abnormality of the dentate nucleus
Периодический (5–29%)12
HP:0000643Blepharospasm
HP:0001300Parkinsonism
HP:0001348Brisk reflexes
HP:0001621Weak voice
HP:0001686Loss of voice
HP:0002340Caudate atrophy
HP:0002356Writer's cramp
HP:0002395Lower limb hyperreflexia
HP:0007350Hyperreflexia in upper limbs
HP:0007772Impaired smooth pursuit
HP:0010530Palatal myoclonus
HP:0031960Arm dystonia
Очень редкий (1–4%)7
HP:0000709Psychosis
HP:0000727Frontal lobe dementia
HP:0002322Resting tremor
HP:0002922Increased CSF protein concentration
HP:0003487Babinski sign
HP:0007123Subcortical dementia
HP:0025331Upgaze palsy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 90 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)