Hartnup disease
ORPHA:2116DiseaseAutosomal recessiveAll ages
Ассоциированные гены2
Фенотипы (HPO)30
Очень частый (80–99%)11
HP:0000712Emotional lability
HP:0000738Hallucinations
HP:0000739Anxiety
HP:0000992Cutaneous photosensitivity
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001347Hyperreflexia
HP:0002076Migraine
HP:0002353EEG abnormality
HP:0008353Neutral hyperaminoaciduria
HP:0012086Abnormal urinary color
Частый (30–79%)8
HP:0000486Strabismus
HP:0000504Abnormality of vision
HP:0000613Photophobia
HP:0000639Nystagmus
HP:0000988Skin rash
HP:0001337Tremor
HP:0002024Malabsorption
HP:6000130Elevated urinary indican level
Периодический (5–29%)11
HP:0000206Glossitis
HP:0000230Gingivitis
HP:0000709Psychosis
HP:0001053Hypopigmented skin patches
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0002383Infectious encephalitis
HP:0004322Short stature
HP:0007400Irregular hyperpigmentation
HP:0008066Abnormal blistering of the skin
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4.2 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.3 | Australia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.85 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.9 | Specific population | Value and class |
| Point prevalence | 1-9 / 100 000 | 4 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)