Autosomal recessive polycystic kidney disease
ORPHA:731DiseaseAutosomal recessiveAll ages
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| DZIP1L | DAZ interacting zinc finger protein 1 like | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 617570 |
| PKHD1 | PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606702 |
Фенотипы (HPO)51
Очень частый (80–99%)5
HP:0000105Enlarged kidney
HP:0000113Polycystic kidney dysplasia
HP:0000822Hypertension
HP:0001395Hepatic fibrosis
HP:0001405Periportal fibrosis
Частый (30–79%)24
HP:0000083Renal insufficiency
HP:0001396Cholestasis
HP:0001409Portal hypertension
HP:0001510Growth delay
HP:0001562Oligohydramnios
HP:0001744Splenomegaly
HP:0001971Hypersplenism
HP:0002040Esophageal varix
HP:0002089Pulmonary hypoplasia
HP:0002612Congenital hepatic fibrosis
HP:0002630Fat malabsorption
HP:0002878Respiratory failure
HP:0002902Hyponatremia
HP:0003774Stage 5 chronic kidney disease
HP:0004905Low levels of vitamin A
HP:0005565Reduced renal corticomedullary differentiation
HP:0006560Biliary hyperplasia
HP:0011040Abnormality of the intrahepatic bile duct
HP:0011892Low levels of vitamin K
HP:0011968Feeding difficulties
HP:0012202Increased serum bile acid concentration
HP:0030948Elevated gamma-glutamyltransferase level
HP:0100512Low levels of vitamin D
HP:0100513Low levels of vitamin E
Периодический (5–29%)14
HP:0000010Recurrent urinary tract infections
HP:0000952Jaundice
HP:0001433Hepatosplenomegaly
HP:0001541Ascites
HP:0001873Thrombocytopenia
HP:0001919Acute kidney injury
HP:0001959Polydipsia
HP:0002239Gastrointestinal hemorrhage
HP:0002243Protein-losing enteropathy
HP:0002791Hypoventilation
HP:0002884Hepatoblastoma
HP:0006532Recurrent pneumonia
HP:0030151Cholangitis
HP:0100520Oliguria
Очень редкий (1–4%)8
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000457Depressed nasal ridge
HP:0001737Pancreatic cysts
HP:0002108Spontaneous pneumothorax
HP:0030153Cholangiocarcinoma
HP:0040064Abnormality of limbs
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5 | Germany | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)