Penile agenesis
ORPHA:49Morphological anomalyAntenatal, Neonatal
Фенотипы (HPO)29
Очень частый (80–99%)18
HP:0000014Abnormality of the bladder
HP:0000062Ambiguous genitalia
HP:0000072Hydroureter
HP:0000126Hydronephrosis
HP:0000358Posteriorly rotated ears
HP:0001562Oligohydramnios
HP:0002023Anal atresia
HP:0002089Pulmonary hypoplasia
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0010480Urethral fistula
HP:0010945Fetal pyelectasis
HP:0030261Absent penis
HP:0012583Unilateral renal hypoplasia
HP:0012584Bilateral renal hypoplasia
HP:0012620Cloacal abnormality
HP:0012732Anorectal anomaly
HP:0100590Rectal fistula
Периодический (5–29%)11
HP:0000028Cryptorchidism
HP:0000052Urethral atresia, male
HP:0000800Cystic renal dysplasia
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001776Bilateral talipes equinovarus
HP:0002575Tracheoesophageal fistula
HP:0005944Bilateral lung agenesis
HP:0006827Atrophy of the spinal cord
HP:0009800Maternal diabetes
HP:0010958Bilateral renal agenesis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 80 | 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)