Iminoglycinuria
ORPHA:42062DiseaseAutosomal recessiveAll ages
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SLC6A20 | solute carrier family 6 member 20 | Candidate gene tested in | gene with protein product | 605616 |
| SLC36A2 | solute carrier family 36 member 2 | Disease-causing germline mutation(s) in | gene with protein product | 608331 |
| SLC6A18 | solute carrier family 6 member 18 | Candidate gene tested in | gene with protein product | 610300 |
| SLC6A19 | solute carrier family 6 member 19 | Candidate gene tested in | gene with protein product | 608893 |
Фенотипы (HPO)6
Облигатный (100%)3
HP:0003080Hydroxyprolinuria
HP:0003108Hyperglycinuria
HP:0003137Prolinuria
Исключён (0%)3
HP:0002154Hyperglycinemia
HP:0003260Hydroxyprolinemia
HP:0008358Hyperprolinemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 6.67 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.68 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)