Cronkhite-Canada syndrome
ORPHA:2930DiseaseNot applicableAdult, Elderly
Фенотипы (HPO)33
Очень частый (80–99%)12
HP:0001000Abnormality of skin pigmentation
HP:0001231Abnormal fingernail morphology
HP:0001596Alopecia
HP:0001800Hypoplastic toenails
HP:0001810Dystrophic toenail
HP:0002014Diarrhea
HP:0002024Malabsorption
HP:0002232Patchy alopecia
HP:0004390Hamartomatous polyposis
HP:0007440Generalized hyperpigmentation
HP:0008391Dystrophic fingernails
HP:0200008Intestinal polyposis
Частый (30–79%)9
HP:0001004Lymphedema
HP:0001903Anemia
HP:0002027Abdominal pain
HP:0002039Anorexia
HP:0002231Sparse body hair
HP:0002597Abnormality of the vasculature
HP:0004326Cachexia
HP:0012378Fatigue
HP:0100840Aplasia/Hypoplasia of the eyebrow
Периодический (5–29%)12
HP:0000221Furrowed tongue
HP:0000224Decreased taste sensation
HP:0000256Macrocephaly
HP:0000518Cataract
HP:0001182Tapered finger
HP:0001250Seizure
HP:0001744Splenomegaly
HP:0002240Hepatomegaly
HP:0002664Neoplasm
HP:0002672Gastrointestinal carcinoma
HP:0003003Colon cancer
HP:0012126Stomach cancer
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 500 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)