Enamel-renal syndrome
ORPHA:1031Malformation syndromeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)10
HP:0000112Nephropathy
HP:0000121Nephrocalcinosis
HP:0000212Gingival overgrowth
HP:0000682Abnormality of dental enamel
HP:0000684Delayed eruption of teeth
HP:0000705Amelogenesis imperfecta
HP:0006286Yellow-brown discoloration of the teeth
HP:0011073Abnormality of dental color
HP:0031428Increased circulating osteocalcin level
HP:0100530Abnormality of calcium-phosphate metabolism
Частый (30–79%)10
HP:0000083Renal insufficiency
HP:0000169Gingival fibromatosis
HP:0000805Enuresis
HP:0003127Hypocalciuria
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0003771Pulp calcification
HP:0004727Impaired renal concentrating ability
HP:0011079Impacted tooth
HP:0012365Hypophosphaturia
HP:0012405Hypocitraturia
Периодический (5–29%)5
HP:0000158Macroglossia
HP:0000704Periodontitis
HP:0009102Anterior open-bite malocclusion
HP:0009804Tooth agenesis
HP:0012101Decreased serum creatinine
Очень редкий (1–4%)1
HP:0011069Supernumerary tooth
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)