Wolfram syndrome
ORPHA:3463DiseaseAutosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены2
Фенотипы (HPO)39
Очень частый (80–99%)5
HP:0000407Sensorineural hearing impairment
HP:0000648Optic atrophy
HP:0000819Diabetes mellitus
HP:0000873Diabetes insipidus
HP:0001959Polydipsia
Частый (30–79%)10
HP:0000010Recurrent urinary tract infections
HP:0000079Abnormality of the urinary system
HP:0000112Nephropathy
HP:0000639Nystagmus
HP:0001250Seizure
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0008872Feeding difficulties in infancy
HP:0100016Abnormality of mesentery morphology
HP:0100518Dysuria
Периодический (5–29%)24
HP:0000026Male hypogonadism
HP:0000135Hypogonadism
HP:0000501Glaucoma
HP:0000602Ophthalmoplegia
HP:0000708Atypical behavior
HP:0000726Dementia
HP:0000738Hallucinations
HP:0000823Delayed puberty
HP:0001249Intellectual disability
HP:0001387Joint stiffness
HP:0001638Cardiomyopathy
HP:0001903Anemia
HP:0002019Constipation
HP:0002024Malabsorption
HP:0002093Respiratory insufficiency
HP:0002120Cerebral cortical atrophy
HP:0002239Gastrointestinal hemorrhage
HP:0002360Sleep abnormality
HP:0002376Developmental regression
HP:0002592Gastric ulcer
HP:0002871Central apnea
HP:0003198Myopathy
HP:0009830Peripheral neuropathy
HP:0012332Abnormal autonomic nervous system physiology
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.13 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.12 | India | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.13 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.83 | Specific population | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.13 | Japan | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.62 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)