Renal agenesis, unilateral
ORPHA:93100Clinical subtypeAutosomal dominantAll ages, Antenatal
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RET | ret proto-oncogene | Disease-causing germline mutation(s) in | gene with protein product | 164761 |
| FRAS1 | Fraser extracellular matrix complex subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 607830 |
| BMP4 | bone morphogenetic protein 4 | Disease-causing germline mutation(s) in | gene with protein product | 112262 |
| FREM2 | FRAS1 related extracellular matrix 2 | Disease-causing germline mutation(s) in | gene with protein product | 608945 |
| FREM1 | FRAS1 related extracellular matrix 1 | Disease-causing germline mutation(s) in | gene with protein product | 608944 |
| UPK3A | uroplakin 3A | Disease-causing germline mutation(s) in | gene with protein product | 611559 |
| DSTYK | dual serine/threonine and tyrosine protein kinase | Disease-causing germline mutation(s) in | gene with protein product | 612666 |
| GREB1L | GREB1 like retinoic acid receptor coactivator | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 617782 |
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only |
| Prevalence at birth | 1-5 / 10 000 | 50 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)