Autosomal dominant polycystic kidney disease
ORPHA:730DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены9
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GANAB | glucosidase II alpha subunit | Disease-causing germline mutation(s) in | gene with protein product | 104160 |
| NEK8 | NIMA related kinase 8 | Disease-causing germline mutation(s) in | gene with protein product | 609799 |
| ALG9 | ALG9 alpha-1,2-mannosyltransferase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606941 |
| DNAJB11 | DnaJ heat shock protein family (Hsp40) member B11 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611341 |
| ALG5 | ALG5 dolichyl-phosphate beta-glucosyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 604565 |
| PKD1 | polycystin 1, transient receptor potential channel interacting | Disease-causing germline mutation(s) in | gene with protein product | 601313 |
| PKD2 | polycystin 2, transient receptor potential cation channel | Disease-causing germline mutation(s) in | gene with protein product | 173910 |
| BICC1 | BicC family RNA binding protein 1 | Candidate gene tested in | gene with protein product | 614295 |
| IFT140 | intraflagellar transport 140 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614620 |
Фенотипы (HPO)26
Очень частый (80–99%)5
HP:0000083Renal insufficiency
HP:0000107Renal cyst
HP:0001407Hepatic cysts
HP:0003259Elevated circulating creatinine concentration
HP:0012213Decreased glomerular filtration rate
Частый (30–79%)7
HP:0000790Hematuria
HP:0000822Hypertension
HP:0003774Stage 5 chronic kidney disease
HP:0012591Abnormal urinary electrolyte concentration
HP:0012592Albuminuria
HP:0012622Chronic kidney disease
HP:0030157Flank pain
Периодический (5–29%)13
HP:0000010Recurrent urinary tract infections
HP:0000105Enlarged kidney
HP:0000791Uric acid nephrolithiasis
HP:0001634Mitral valve prolapse
HP:0001737Pancreatic cysts
HP:0002616Aortic root aneurysm
HP:0004944Dilatation of the cerebral artery
HP:0006557Polycystic liver disease
HP:0008672Calcium oxalate nephrolithiasis
HP:0011004Abnormal systemic arterial morphology
HP:0012207Reduced sperm motility
HP:0012330Pyelonephritis
HP:0100702Arachnoid cyst
Очень редкий (1–4%)1
HP:0011760Pituitary growth hormone cell adenoma
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 39.6 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)