HNF1B-related autosomal dominant tubulointerstitial kidney disease
ORPHA:93111Clinical subtypeAutosomal dominantAdolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)2
HP:0000003Multicystic kidney dysplasia
HP:0000083Renal insufficiency
Частый (30–79%)1
HP:0000819Diabetes mellitus
Периодический (5–29%)26
HP:0000047Hypospadias
HP:0000085Horseshoe kidney
HP:0000104Renal agenesis
HP:0000303Mandibular prognathia
HP:0000365Hearing impairment
HP:0000813Bicornuate uterus
HP:0000821Hypothyroidism
HP:0000952Jaundice
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001369Arthritis
HP:0001397Hepatic steatosis
HP:0001919Acute kidney injury
HP:0001959Polydipsia
HP:0001994Renal Fanconi syndrome
HP:0002021Pyloric stenosis
HP:0002149Hyperuricemia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0005584Renal cell carcinoma
HP:0009715Papillary cystadenoma of the epididymis
HP:0012092Abnormality of exocrine pancreas physiology
HP:0012093Abnormality of endocrine pancreas physiology
HP:0012873Absent vas deferens
HP:0100800Aplasia/Hypoplasia of the pancreas
HP:0100820Glomerulopathy
HP:0001382Joint hypermobility
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)