Infantile Krabbe disease
ORPHA:206436Clinical subtypeAutosomal recessiveInfancy
Ассоциированные гены2
Фенотипы (HPO)70
Очень частый (80–99%)13
HP:0000649Abnormality of visual evoked potentials
HP:0000737Irritability
HP:0001257Spasticity
HP:0001268Mental deterioration
HP:0001955Unexplained fevers
HP:0002344Progressive neurologic deterioration
HP:0002922Increased CSF protein concentration
HP:0004302Functional motor deficit
HP:0007141Sensorimotor neuropathy
HP:0012379Abnormal enzyme/coenzyme activity
HP:0030215Inappropriate crying
HP:0033031Hyperpyrexia
HP:0034322Reduced galactocerebrosidase activity
Частый (30–79%)13
HP:0000762Decreased nerve conduction velocity
HP:0001188Hand clenching
HP:0001508Failure to thrive
HP:0002061Lower limb spasticity
HP:0002361Psychomotor deterioration
HP:0002518Abnormal periventricular white matter morphology
HP:0004466Prolonged brainstem auditory evoked potentials
HP:0008936Axial hypotonia
HP:0009830Peripheral neuropathy
HP:0011968Feeding difficulties
HP:0012706Elevated brain choline level by MRS
HP:0012708Reduced brain N-acetyl aspartate level by MRS
HP:0031161Reduced brain glutamate level by MRS
Периодический (5–29%)39
HP:0000238Hydrocephalus
HP:0000365Hearing impairment
HP:0000572Visual loss
HP:0000613Photophobia
HP:0000618Blindness
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001265Hyporeflexia
HP:0001298Encephalopathy
HP:0001324Muscle weakness
HP:0001336Myoclonus
HP:0001347Hyperreflexia
HP:0001824Weight loss
HP:0002013Vomiting
HP:0002020Gastroesophageal reflux
HP:0002098Respiratory distress
HP:0002123Generalized myoclonic seizure
HP:0002179Opisthotonus
HP:0002421Poor head control
HP:0002506Diffuse cerebral atrophy
HP:0002516Increased intracranial pressure
HP:0002719Recurrent infections
HP:0002878Respiratory failure
HP:0003394Muscle spasm
HP:0003547Shoulder girdle muscle weakness
HP:0003552Muscle stiffness
HP:0004326Cachexia
HP:0005968Temperature instability
HP:0007103Hypointensity of cerebral white matter on MRI
HP:0011444Decorticate rigidity
HP:0011448Ankle clonus
HP:0011470Nasogastric tube feeding in infancy
HP:0025013Decerebrate rigidity
HP:0030211Slow pupillary light response
HP:0031860Abnormal heart rate variability
HP:0040194Increased head circumference
HP:0040195Decreased head circumference
HP:0100963Hyperesthesia
Очень редкий (1–4%)5
HP:0000467Neck muscle weakness
HP:0001053Hypopigmented skin patches
HP:0001264Spastic diplegia
HP:0001601Laryngomalacia
HP:0010729Cherry red spot of the macula
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.254 | 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)