Sarcosinemia
ORPHA:3129DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)22
Облигатный (100%)1
HP:0010896Hypersarcosinemia
Очень частый (80–99%)1
HP:0010897Hypersarcosinuria
Периодический (5–29%)20
HP:0000486Strabismus
HP:0000648Optic atrophy
HP:0000712Emotional lability
HP:0001251Ataxia
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001639Hypertrophic cardiomyopathy
HP:0001642Pulmonic stenosis
HP:0002069Bilateral tonic-clonic seizure
HP:0002273Tetraparesis
HP:0002360Sleep abnormality
HP:0002371Loss of speech
HP:0002465Poor speech
HP:0007875Congenital blindness
HP:0008610Infantile sensorineural hearing impairment
HP:0008947Floppy infant
HP:0010522Dyslexia
HP:0011727Peroneal muscle weakness
HP:0100022Abnormality of movement
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.28 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.3 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)