X-linked sideroblastic anemia and spinocerebellar ataxia
ORPHA:2802DiseaseX-linked recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)6
HP:0001251Ataxia
HP:0001903Anemia
HP:0002066Gait ataxia
HP:0002167Abnormality of speech or vocalization
HP:0012187Increased erythrocyte protoporphyrin concentration
HP:0031936Delayed ability to walk
Частый (30–79%)11
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0000750Delayed speech and language development
HP:0001260Dysarthria
HP:0001347Hyperreflexia
HP:0001348Brisk reflexes
HP:0001924Sideroblastic anemia
HP:0002172Postural instability
HP:0002194Delayed gross motor development
HP:0004840Hypochromic microcytic anemia
HP:0011273Anisocytosis
Периодический (5–29%)9
HP:0000717Autism
HP:0001252Hypotonia
HP:0001272Cerebellar atrophy
HP:0001310Dysmetria
HP:0001510Growth delay
HP:0002075Dysdiadochokinesis
HP:0004447Poikilocytosis
HP:0020081Pappenheimer bodies
HP:0034499Increased bone marrow iron
Очень редкий (1–4%)6
HP:0000028Cryptorchidism
HP:0000716Depression
HP:0001250Seizure
HP:0001992Organic aciduria
HP:0100543Cognitive impairment
HP:0100753Schizophrenia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 13 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)