Juvenile polyposis syndrome
ORPHA:2929DiseaseAutosomal dominantAdolescent, Adult, Childhood, Infancy
Фенотипы (HPO)52
Облигатный (100%)3
HP:0012198Juvenile colonic polyposis
HP:0100896Rectal polyposis
HP:0004784Juvenile gastrointestinal polyposis
Очень частый (80–99%)1
HP:0005266Intestinal polyp
Частый (30–79%)4
HP:0001903Anemia
HP:0002027Abdominal pain
HP:0004390Hamartomatous polyposis
HP:0030256Small intestinal polyposis
Периодический (5–29%)21
HP:0004795Hamartomatous stomach polyps
HP:0002573Hematochezia
HP:0002576Intussusception
HP:0002014Diarrhea
HP:0100822Rectocele
HP:0001510Growth delay
HP:0000969Edema
HP:0002239Gastrointestinal hemorrhage
HP:0012432Chronic fatigue
HP:0000256Macrocephaly
HP:0001999Abnormal facial shape
HP:0002003Large forehead
HP:0000331Short chin
HP:0001256Intellectual disability, mild
HP:0004406Spontaneous, recurrent epistaxis
HP:0003003Colon cancer
HP:0012126Stomach cancer
HP:0100833Neoplasm of the small intestine
HP:0001508Failure to thrive
HP:0100759Clubbing of fingers
HP:0007378Neoplasm of the gastrointestinal tract
Очень редкий (1–4%)23
HP:0002243Protein-losing enteropathy
HP:0001012Multiple lipomas
HP:0010797Hemangioblastoma
HP:0000316Hypertelorism
HP:0000494Downslanted palpebral fissures
HP:0005280Depressed nasal bridge
HP:0000369Low-set ears
HP:0000160Narrow mouth
HP:0100579Mucosal telangiectasiae
HP:0100761Visceral angiomatosis
HP:0002326Transient ischemic attack
HP:0030049Brain abscess
HP:0004941Extrahepatic portal hypertension
HP:0002092Pulmonary arterial hypertension
HP:0002894Neoplasm of the pancreas
HP:0012050Anasarca
HP:0003075Hypoproteinemia
HP:0000421Epistaxis
HP:0100026Arteriovenous malformation
HP:0006548Pulmonary arteriovenous malformation
HP:0006574Hepatic arteriovenous malformation
HP:0002408Cerebral arteriovenous malformation
HP:0040231Abnormal onset of bleeding
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 3.85 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)