Homocystinuria due to methylene tetrahydrofolate reductase deficiency
ORPHA:395DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)10
HP:0000708Atypical behavior
HP:0001288Gait disturbance
HP:0002011Morphological central nervous system abnormality
HP:0002061Lower limb spasticity
HP:0002156Homocystinuria
HP:0002160Hyperhomocystinemia
HP:0002493Upper motor neuron dysfunction
HP:0003286Cystathioninemia
HP:0007340Lower limb muscle weakness
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)9
HP:0000725Psychotic episodes
HP:0001250Seizure
HP:0001251Ataxia
HP:0001268Mental deterioration
HP:0002313Spastic paraparesis
HP:0002518Abnormal periventricular white matter morphology
HP:0003658Hypomethioninemia
HP:0009830Peripheral neuropathy
HP:0410263Brain imaging abnormality
Периодический (5–29%)21
HP:0000709Psychosis
HP:0001249Intellectual disability
HP:0001254Lethargy
HP:0001263Global developmental delay
HP:0001269Hemiparesis
HP:0001328Specific learning disability
HP:0001345Psychotic mentation
HP:0001508Failure to thrive
HP:0001727Thromboembolic stroke
HP:0001977Abnormal thrombosis
HP:0002069Bilateral tonic-clonic seizure
HP:0002104Apnea
HP:0002315Headache
HP:0002500Abnormal cerebral white matter morphology
HP:0002625Deep venous thrombosis
HP:0006827Atrophy of the spinal cord
HP:0007359Focal-onset seizure
HP:0008872Feeding difficulties in infancy
HP:0008935Generalized neonatal hypotonia
HP:0012444Brain atrophy
HP:0100543Cognitive impairment
Очень редкий (1–4%)10
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000478Abnormality of the eye
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001297Stroke
HP:0001298Encephalopathy
HP:0002119Ventriculomegaly
HP:0002121Generalized non-motor (absence) seizure
HP:0002123Generalized myoclonic seizure
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)