Kufor-Rakeb syndrome
ORPHA:306674DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)9
HP:0000514Slow saccadic eye movements
HP:0000605Supranuclear gaze palsy
HP:0000726Dementia
HP:0001300Parkinsonism
HP:0002063Rigidity
HP:0002395Lower limb hyperreflexia
HP:0003487Babinski sign
HP:0007256Abnormal pyramidal sign
HP:0007350Hyperreflexia in upper limbs
Частый (30–79%)17
HP:0000020Urinary incontinence
HP:0000183Tongue muscle weakness
HP:0000338Hypomimic face
HP:0000736Short attention span
HP:0001167Abnormality of finger
HP:0001254Lethargy
HP:0001288Gait disturbance
HP:0001289Confusion
HP:0001336Myoclonus
HP:0002120Cerebral cortical atrophy
HP:0002367Visual hallucinations
HP:0002425Anarthria
HP:0008969Leg muscle stiffness
HP:0010553Oculogyric crisis
HP:0011446Abnormality of higher mental function
HP:0012378Fatigue
HP:0100660Dyskinesia
Периодический (5–29%)18
HP:0000511Vertical supranuclear gaze palsy
HP:0000639Nystagmus
HP:0000643Blepharospasm
HP:0000658Eyelid apraxia
HP:0000741Apathy
HP:0001260Dysarthria
HP:0001268Mental deterioration
HP:0001276Hypertonia
HP:0001760Abnormal foot morphology
HP:0001945Fever
HP:0002015Dysphagia
HP:0002067Bradykinesia
HP:0002493Upper motor neuron dysfunction
HP:0002607Bowel incontinence
HP:0003324Generalized muscle weakness
HP:0007083Hyperactive patellar reflex
HP:0025403Stooped posture
HP:0031008Lingual dystonia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 16 | 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)