STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
ORPHA:391487DiseaseAutosomal dominantInfancy
Ассоциированные гены1
Фенотипы (HPO)47
Очень частый (80–99%)7
HP:0000009Functional abnormality of the bladder
HP:0001510Growth delay
HP:0002242Abnormal intestine morphology
HP:0002728Chronic mucocutaneous candidiasis
HP:0002750Delayed skeletal maturation
HP:0002788Recurrent upper respiratory tract infections
HP:0004322Short stature
Частый (30–79%)25
HP:0000818Abnormality of the endocrine system
HP:0000823Delayed puberty
HP:0000832Primary hypothyroidism
HP:0000938Osteopenia
HP:0000964Eczematoid dermatitis
HP:0001433Hepatosplenomegaly
HP:0001888Lymphopenia
HP:0001890Autoimmune hemolytic anemia
HP:0001920Renal artery stenosis
HP:0002014Diarrhea
HP:0002110Bronchiectasis
HP:0002719Recurrent infections
HP:0002721Immunodeficiency
HP:0002958Immune dysregulation
HP:0004387Enterocolitis
HP:0004944Dilatation of the cerebral artery
HP:0005353Recurrent herpes
HP:0010976Decreased total B cell count
HP:0011123Inflammatory abnormality of the skin
HP:0011473Villous atrophy
HP:0012163Carotid artery dilatation
HP:0040160Generalized osteoporosis
HP:0100646Thyroiditis
HP:0100651Type I diabetes mellitus
HP:0100817Renovascular hypertension
Периодический (5–29%)14
HP:0001635Congestive heart failure
HP:0001655Patent foramen ovale
HP:0001873Thrombocytopenia
HP:0001904Neutropenia in presence of anti-neutropil antibodies
HP:0001973Autoimmune thrombocytopenia
HP:0002092Pulmonary arterial hypertension
HP:0002383Infectious encephalitis
HP:0002724Recurrent Aspergillus infections
HP:0003613Antiphospholipid antibody positivity
HP:0004966Medial calcification of large arteries
HP:0011459Esophageal carcinoma
HP:0012115Hepatitis
HP:0012182Oropharyngeal squamous cell carcinoma
HP:0030355Abnormal serum interferon-gamma level
Исключён (0%)1
HP:0005403Decreased total T cell count
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)