Classic pantothenate kinase-associated neurodegeneration
ORPHA:216866Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)1
HP:0001288Gait disturbance
Частый (30–79%)19
HP:0000157Abnormality of the tongue
HP:0000510Rod-cone dystrophy
HP:0000543Optic disc pallor
HP:0000580Pigmentary retinopathy
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001347Hyperreflexia
HP:0002015Dysphagia
HP:0002359Frequent falls
HP:0002454Eye of the tiger anomaly of globus pallidus
HP:0002533Abnormal posturing
HP:0002540Inability to walk
HP:0002659Increased susceptibility to fractures
HP:0003552Muscle stiffness
HP:0007018Attention deficit hyperactivity disorder
HP:0007325Generalized dystonia
HP:0012675Iron accumulation in brain
HP:0030051Tip-toe gait
HP:0100543Cognitive impairment
Периодический (5–29%)6
HP:0000298Mask-like facies
HP:0001263Global developmental delay
HP:0001824Weight loss
HP:0002179Opisthotonus
HP:0011951Aspiration pneumonia
HP:0012735Cough
Очень редкий (1–4%)2
HP:0000618Blindness
HP:0001250Seizure
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)