Cerebrotendinous xanthomatosis
ORPHA:909DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)91
Очень частый (80–99%)3
HP:0000505Visual impairment
HP:0001118Juvenile cataract
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)41
HP:0000543Optic disc pallor
HP:0000639Nystagmus
HP:0000649Abnormality of visual evoked potentials
HP:0000708Atypical behavior
HP:0000762Decreased nerve conduction velocity
HP:0000939Osteoporosis
HP:0001138Optic neuropathy
HP:0001167Abnormality of finger
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001317Abnormal cerebellum morphology
HP:0001328Specific learning disability
HP:0001332Dystonia
HP:0001347Hyperreflexia
HP:0001761Pes cavus
HP:0002028Chronic diarrhea
HP:0002071Abnormality of extrapyramidal motor function
HP:0002310Orofacial dyskinesia
HP:0002385Paraparesis
HP:0002453Abnormal globus pallidus morphology
HP:0002992Abnormality of tibia morphology
HP:0003487Babinski sign
HP:0003693Distal amyotrophy
HP:0005109Abnormality of the Achilles tendon
HP:0006958Abnormal auditory evoked potentials
HP:0007256Abnormal pyramidal sign
HP:0007272Progressive psychomotor deterioration
HP:0007377Abnormality of somatosensory evoked potentials
HP:0008046Abnormal retinal vascular morphology
HP:0009830Peripheral neuropathy
HP:0010874Tendon xanthomatosis
HP:0011931Abnormality of the cerebellar peduncle
HP:0012758Neurodevelopmental delay
HP:0012896Abnormal motor evoked potentials
HP:0030890Hyperintensity of cerebral white matter on MRI
HP:0100543Cognitive impairment
HP:0100872Abnormality of the plantar skin of foot
Периодический (5–29%)42
HP:0000464Abnormality of the neck
HP:0000492Abnormal eyelid morphology
HP:0000520Proptosis
HP:0000648Optic atrophy
HP:0000713Agitation
HP:0000716Depression
HP:0000717Autism
HP:0000718Aggressive behavior
HP:0000736Short attention span
HP:0000738Hallucinations
HP:0000821Hypothyroidism
HP:0000938Osteopenia
HP:0001081Cholelithiasis
HP:0001155Abnormality of the hand
HP:0001272Cerebellar atrophy
HP:0001300Parkinsonism
HP:0002151Increased circulating lactate concentration
HP:0002171Gliosis
HP:0002283Global brain atrophy
HP:0002322Resting tremor
HP:0002423Long-tract signs
HP:0002659Increased susceptibility to fractures
HP:0002823Abnormality of femur morphology
HP:0002942Thoracic kyphosis
HP:0004416Precocious atherosclerosis
HP:0005181Premature coronary artery atherosclerosis
HP:0006480Premature loss of teeth
HP:0006579Prolonged neonatal jaundice
HP:0007018Attention deficit hyperactivity disorder
HP:0007305CNS demyelination
HP:0007495Prematurely aged appearance
HP:0007922Hypermyelinated retinal nerve fibers
HP:0008516Abnormality of the vertebral spinous processes
HP:0009811Abnormality of the elbow
HP:0011994Abnormal atrial septum morphology
HP:0012075Personality disorder
HP:0012706Elevated brain choline level by MRS
HP:0012707Elevated brain lactate level by MRS
HP:0031589Suicidal ideation
HP:0040078Axonal degeneration
HP:0100321Abnormality of the dentate nucleus
HP:0200125Mitochondrial respiratory chain defects
Очень редкий (1–4%)5
HP:0002088Abnormal lung morphology
HP:0002196Myelopathy
HP:0002313Spastic paraparesis
HP:0003474Somatic sensory dysfunction
HP:0010530Palatal myoclonus
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 | Specific population | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.056 | Spain | Value and class |
| Point prevalence | 1-9 / 100 000 | 4 | United States | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)