Juvenile polyposis of infancy
ORPHA:79076Clinical subtypeAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)43
Облигатный (100%)1
HP:0005227Adenomatous colonic polyposis
Очень частый (80–99%)3
HP:0002239Gastrointestinal hemorrhage
HP:0002014Diarrhea
HP:0001903Anemia
Частый (30–79%)15
HP:0004326Cachexia
HP:0002243Protein-losing enteropathy
HP:0000256Macrocephaly
HP:0001999Abnormal facial shape
HP:0002003Large forehead
HP:0000316Hypertelorism
HP:0004390Hamartomatous polyposis
HP:0002027Abdominal pain
HP:0002573Hematochezia
HP:0002249Melena
HP:0005505Refractory anemia
HP:0003073Hypoalbuminemia
HP:0001028Hemangioma
HP:0001249Intellectual disability
HP:0001892Abnormal bleeding
Периодический (5–29%)23
HP:0010797Hemangioblastoma
HP:0000494Downslanted palpebral fissures
HP:0005280Depressed nasal bridge
HP:0000369Low-set ears
HP:0000160Narrow mouth
HP:0000331Short chin
HP:0001256Intellectual disability, mild
HP:0002584Intestinal bleeding
HP:0002576Intussusception
HP:0002035Rectal prolapse
HP:0100759Clubbing of fingers
HP:0001627Abnormal heart morphology
HP:0001290Generalized hypotonia
HP:0001270Motor delay
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0004322Short stature
HP:0006608Midclavicular hypoplasia
HP:0030257Freckled genitalia
HP:0002007Frontal bossing
HP:0002705High, narrow palate
HP:0011304Broad thumb
HP:0010174Broad phalanx of the toes
Очень редкий (1–4%)1
HP:0001031Subcutaneous lipoma
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)