Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
ORPHA:1192Malformation syndromeAutosomal recessiveChildhood
Фенотипы (HPO)23
Очень частый (80–99%)9
HP:0000407Sensorineural hearing impairment
HP:0001327Photomyoclonic seizures
HP:0001677Coronaryartery atherosclerosis
HP:0001903Anemia
HP:0002344Progressive neurologic deterioration
HP:0003287Abnormality of mitochondrial metabolism
HP:0004322Short stature
HP:0007201Cerebral artery atherosclerosis
HP:0100651Type I diabetes mellitus
Частый (30–79%)14
HP:0000028Cryptorchidism
HP:0000093Proteinuria
HP:0000100Nephrotic syndrome
HP:0000112Nephropathy
HP:0000822Hypertension
HP:0001276Hypertonia
HP:0001288Gait disturbance
HP:0001337Tremor
HP:0001376Limitation of joint mobility
HP:0001633Abnormal mitral valve morphology
HP:0002120Cerebral cortical atrophy
HP:0003307Hyperlordosis
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0100545Arterial stenosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)