Wolfram-like syndrome
ORPHA:411590DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)22
Очень частый (80–99%)7
HP:0000648Optic atrophy
HP:0000709Psychosis
HP:0000716Depression
HP:0000726Dementia
HP:0000729Autistic behavior
HP:0000739Anxiety
HP:0000819Diabetes mellitus
Частый (30–79%)12
HP:0000026Male hypogonadism
HP:0000377Abnormal pinna morphology
HP:0000501Glaucoma
HP:0000823Delayed puberty
HP:0000863Central diabetes insipidus
HP:0001952Glucose intolerance
HP:0002073Progressive cerebellar ataxia
HP:0002579Gastrointestinal dysmotility
HP:0003477Peripheral axonal neuropathy
HP:0008193Primary gonadal insufficiency
HP:0008527Congenital sensorineural hearing impairment
HP:0010935Abnormality of the upper urinary tract
Периодический (5–29%)3
HP:0000821Hypothyroidism
HP:0002093Respiratory insufficiency
HP:0008850Severe postnatal growth retardation
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)