Primary intestinal lymphangiectasia
ORPHA:90362DiseaseAll ages
Фенотипы (HPO)35
Очень частый (80–99%)6
HP:0000969Edema
HP:0001903Anemia
HP:0002593Intestinal lymphangiectasia
HP:0005387Combined immunodeficiency
HP:0012719Functional abnormality of the gastrointestinal tract
HP:0100766Abnormal lymphatic vessel morphology
Частый (30–79%)9
HP:0001510Growth delay
HP:0001824Weight loss
HP:0001888Lymphopenia
HP:0002028Chronic diarrhea
HP:0003073Hypoalbuminemia
HP:0003075Hypoproteinemia
HP:0004313Decreased circulating antibody level
HP:0011472Abnormality of small intestinal villus morphology
HP:0100508Abnormality of vitamin metabolism
Периодический (5–29%)18
HP:0001281Tetany
HP:0001541Ascites
HP:0001698Pericardial effusion
HP:0002027Abdominal pain
HP:0002202Pleural effusion
HP:0002720Decreased circulating IgA level
HP:0002850Decreased circulating total IgM
HP:0002901Hypocalcemia
HP:0002917Hypomagnesemia
HP:0003394Muscle spasm
HP:0004315Decreased circulating IgG level
HP:0007430Generalized edema
HP:0025624Reduced proportion of CD4+ effector memory T cells
HP:0031686Increased stool alpha1-antitrypsin concentration
HP:0031690Opportunistic infection
HP:0045080Decreased proportion of CD3-positive T cells
HP:0100512Low levels of vitamin D
HP:0001541Ascites
Очень редкий (1–4%)2
HP:0032160Cryptococcal meningitis
HP:0032215Disseminated cutaneous warts
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)