Methylmalonic acidemia with homocystinuria
ORPHA:26DiseaseAutosomal recessive, X-linked recessiveAll ages
Фенотипы (HPO)18
Очень частый (80–99%)12
HP:0000252Microcephaly
HP:0000488Retinopathy
HP:0000646Amblyopia
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001980Megaloblastic bone marrow
HP:0011968Feeding difficulties
HP:0012378Fatigue
Частый (30–79%)5
HP:0000238Hydrocephalus
HP:0000708Atypical behavior
HP:0001288Gait disturbance
HP:0030680Abnormal cardiovascular system morphology
HP:0100022Abnormality of movement
Периодический (5–29%)1
HP:0000988Skin rash
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 500 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)