Pantothenate kinase-associated neurodegeneration
ORPHA:157850DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)60
Очень частый (80–99%)8
HP:0000505Visual impairment
HP:0000546Retinal degeneration
HP:0001257Spasticity
HP:0001266Choreoathetosis
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0002071Abnormality of extrapyramidal motor function
HP:0002505Loss of ambulation
Частый (30–79%)21
HP:0000496Abnormality of eye movement
HP:0000510Rod-cone dystrophy
HP:0000580Pigmentary retinopathy
HP:0000662Nyctalopia
HP:0000708Atypical behavior
HP:0000938Osteopenia
HP:0001260Dysarthria
HP:0001268Mental deterioration
HP:0001300Parkinsonism
HP:0001927Acanthocytosis
HP:0002063Rigidity
HP:0002451Limb dystonia
HP:0002454Eye of the tiger anomaly of globus pallidus
HP:0002483Bulbar signs
HP:0007994Peripheral visual field loss
HP:0008181Abetalipoproteinemia
HP:0009763Limb pain
HP:0012045Retinal flecks
HP:0012179Craniofacial dystonia
HP:0012678Iron accumulation in substantia nigra
HP:0031959Leg dystonia
Периодический (5–29%)28
HP:0000712Emotional lability
HP:0000716Depression
HP:0000722Compulsive behaviors
HP:0000726Dementia
HP:0001123Visual field defect
HP:0001152Saccadic smooth pursuit
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001347Hyperreflexia
HP:0001350Slurred speech
HP:0002167Abnormality of speech or vocalization
HP:0003084Fractures of the long bones
HP:0007018Attention deficit hyperactivity disorder
HP:0007132Pallidal degeneration
HP:0009088Speech articulation difficulties
HP:0011504Bull's eye maculopathy
HP:0011916Toe extensor amyotrophy
HP:0025402Square-wave jerks
HP:0030051Tip-toe gait
HP:0031814Palilalia
HP:0031937Tachylalia
HP:0032014Dysmetric vertical saccades
HP:0100033Tics
HP:0100710Impulsivity
HP:0000618Blindness
HP:0000619Impaired convergence
HP:0000648Optic atrophy
Очень редкий (1–4%)3
HP:0001250Seizure
HP:0001345Psychotic mentation
HP:0002080Intention tremor
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.15 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)