Scalp-ear-nipple syndrome
ORPHA:2036Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)10
HP:0000385Small earlobe
HP:0000951Abnormality of the skin
HP:0001965Abnormality of the scalp
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0008070Sparse hair
HP:0008551Microtia
HP:0009738Abnormality of the antihelix
HP:0011251Underdeveloped antitragus
HP:0011272Underdeveloped tragus
HP:0100783Breast aplasia
Частый (30–79%)9
HP:0000010Recurrent urinary tract infections
HP:0000164Abnormality of the dentition
HP:0000506Telecanthus
HP:0000518Cataract
HP:0000684Delayed eruption of teeth
HP:0000822Hypertension
HP:0001231Abnormal fingernail morphology
HP:0100540Palpebral edema
HP:0100651Type I diabetes mellitus
Периодический (5–29%)6
HP:0000073Ureteral duplication
HP:0000077Abnormality of the kidney
HP:0000625Eyelid coloboma
HP:0000966Hypohidrosis
HP:0005580Duplication of renal pelvis
HP:0012330Pyelonephritis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)