Feingold syndrome type 1
ORPHA:391641Clinical subtypeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)4
HP:0000252Microcephaly
HP:0001770Toe syndactyly
HP:0002589Gastrointestinal atresia
HP:0005819Short middle phalanx of finger
Частый (30–79%)11
HP:0000347Micrognathia
HP:0001328Specific learning disability
HP:0001999Abnormal facial shape
HP:0002032Esophageal atresia
HP:0004209Clinodactyly of the 5th finger
HP:0004220Short middle phalanx of the 5th finger
HP:00046912-3 toe syndactyly
HP:00046924-5 toe syndactyly
HP:0009577Short middle phalanx of the 2nd finger
HP:0009778Short thumb
HP:0012745Short palpebral fissure
Периодический (5–29%)16
HP:0000076Vesicoureteral reflux
HP:0000077Abnormality of the kidney
HP:0000083Renal insufficiency
HP:0000085Horseshoe kidney
HP:0000110Renal dysplasia
HP:0000123Nephritis
HP:0000126Hydronephrosis
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0001627Abnormal heart morphology
HP:0001643Patent ductus arteriosus
HP:0002247Duodenal atresia
HP:0010446Tricuspid stenosis
HP:0011611Interrupted aortic arch
HP:0011625Multiple muscular ventricular septal defects
HP:0011662Tricuspid atresia
Очень редкий (1–4%)4
HP:0001249Intellectual disability
HP:0002023Anal atresia
HP:0004322Short stature
HP:0005235Jejunal atresia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 120 | 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)