Krabbe disease
ORPHA:487DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy, Neonatal
Фенотипы (HPO)50
Очень частый (80–99%)16
HP:0000365Hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000505Visual impairment
HP:0000708Atypical behavior
HP:0000763Sensory neuropathy
HP:0001172Abnormal thumb morphology
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001939Abnormality of metabolism/homeostasis
HP:0002676Cloverleaf skull
HP:0003457EMG abnormality
HP:0009830Peripheral neuropathy
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0011968Feeding difficulties
HP:0034322Reduced galactocerebrosidase activity
Частый (30–79%)13
HP:0000737Irritability
HP:0001250Seizure
HP:0001288Gait disturbance
HP:0001508Failure to thrive
HP:0001945Fever
HP:0002013Vomiting
HP:0002123Generalized myoclonic seizure
HP:0002205Recurrent respiratory infections
HP:0002313Spastic paraparesis
HP:0002376Developmental regression
HP:0003134Abnormality of peripheral nerve conduction
HP:0004374Hemiplegia/hemiparesis
HP:0033031Hyperpyrexia
Периодический (5–29%)21
HP:0000020Urinary incontinence
HP:0000618Blindness
HP:0000648Optic atrophy
HP:0001188Hand clenching
HP:0001265Hyporeflexia
HP:0001324Muscle weakness
HP:0001336Myoclonus
HP:0001761Pes cavus
HP:0001824Weight loss
HP:0002179Opisthotonus
HP:0002312Clumsiness
HP:0002359Frequent falls
HP:0002421Poor head control
HP:0002445Tetraplegia
HP:0002878Respiratory failure
HP:0002922Increased CSF protein concentration
HP:0025013Decerebrate rigidity
HP:0030211Slow pupillary light response
HP:0100639Erectile dysfunction
HP:0100963Hyperesthesia
HP:0001288Gait disturbance
Эпидемиология12
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.327 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 | France | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.71 | Australia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.35 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.21 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Turkey | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | Czech Republic | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.9 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)