Hypoparathyroidism-sensorineural deafness-renal disease syndrome
ORPHA:2237Malformation syndromeAutosomal dominantAll ages
Ассоциированные гены1
Фенотипы (HPO)22
Облигатный (100%)3
HP:0000110Renal dysplasia
HP:0000408Progressive sensorineural hearing impairment
HP:0000829Hypoparathyroidism
Частый (30–79%)8
HP:0000076Vesicoureteral reflux
HP:0000083Renal insufficiency
HP:0000113Polycystic kidney dysplasia
HP:0000122Unilateral renal agenesis
HP:0000126Hydronephrosis
HP:0000860Parathyroid hypoplasia
HP:0002199Hypocalcemic seizures
HP:0002901Hypocalcemia
Периодический (5–29%)3
HP:0000819Diabetes mellitus
HP:0001153Septate vagina
HP:0003762Uterus didelphys
Очень редкий (1–4%)8
HP:0000148Vaginal atresia
HP:0000151Aplasia of the uterus
HP:0000175Cleft palate
HP:0000510Rod-cone dystrophy
HP:0001627Abnormal heart morphology
HP:0003765Psoriasiform dermatitis
HP:0008850Severe postnatal growth retardation
HP:0011840Abnormality of T cell physiology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 180 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)