Riboflavin transporter deficiency
ORPHA:97229Malformation syndromeAutosomal recessiveAdolescent, Adult, Childhood, Infancy
Фенотипы (HPO)35
Очень частый (80–99%)4
HP:0001283Bulbar palsy
HP:0001291Abnormal cranial nerve morphology
HP:0001730Progressive hearing impairment
HP:0006824Cranial nerve paralysis
Частый (30–79%)12
HP:0000496Abnormality of eye movement
HP:0000508Ptosis
HP:0001252Hypotonia
HP:0001260Dysarthria
HP:0001265Hyporeflexia
HP:0001324Muscle weakness
HP:0001336Myoclonus
HP:0002015Dysphagia
HP:0002093Respiratory insufficiency
HP:0003202Skeletal muscle atrophy
HP:0003690Limb muscle weakness
HP:0010628Facial palsy
Периодический (5–29%)19
HP:0000135Hypogonadism
HP:0000505Visual impairment
HP:0000543Optic disc pallor
HP:0000551Color vision defect
HP:0000718Aggressive behavior
HP:0000738Hallucinations
HP:0000771Gynecomastia
HP:0000822Hypertension
HP:0000873Diabetes insipidus
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001337Tremor
HP:0002120Cerebral cortical atrophy
HP:0004326Cachexia
HP:0007730Iris hypopigmentation
HP:0008002Abnormality of macular pigmentation
HP:0010535Sleep apnea
HP:0012332Abnormal autonomic nervous system physiology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 109 | 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)