Hepatic veno-occlusive disease-immunodeficiency syndrome
ORPHA:79124DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)39
Очень частый (80–99%)4
HP:0011117Abnormal circulating interleukin concentration
HP:0003139Panhypogammaglobulinemia
HP:0030355Abnormal serum interferon-gamma level
HP:0040088Abnormal lymphocyte count
Частый (30–79%)11
HP:0005403Decreased total T cell count
HP:0012735Cough
HP:0030374Decreased proportion of memory B cells
HP:0031123Recurrent gastroenteritis
HP:0001433Hepatosplenomegaly
HP:0001531Failure to thrive in infancy
HP:0002205Recurrent respiratory infections
HP:0002240Hepatomegaly
HP:0002743Recurrent enteroviral infections
HP:0002849Absence of lymph node germinal center
HP:0004429Recurrent viral infections
Периодический (5–29%)22
HP:0000016Urinary retention
HP:0000952Jaundice
HP:0001269Hemiparesis
HP:0001409Portal hypertension
HP:0001541Ascites
HP:0001873Thrombocytopenia
HP:0001876Pancytopenia
HP:0001903Anemia
HP:0002014Diarrhea
HP:0002069Bilateral tonic-clonic seizure
HP:0002100Recurrent aspiration pneumonia
HP:0002206Pulmonary fibrosis
HP:0002385Paraparesis
HP:0002415Leukodystrophy
HP:0002722Recurrent abscess formation
HP:0002728Chronic mucocutaneous candidiasis
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0010550Paraplegia
HP:0031218Inappropriate antidiuretic hormone secretion
HP:0040223Pulmonary hemorrhage
HP:0100626Chronic hepatic failure
HP:0410018Recurrent ear infections
Очень редкий (1–4%)2
HP:0000252Microcephaly
HP:0040089Abnormal natural killer cell count
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 28 | 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)