Deficiency in anterior pituitary function-variable immunodeficiency syndrome
ORPHA:293978DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)17
HP:0000403Recurrent otitis media
HP:0001325Hypoglycemic coma
HP:0001988Recurrent hypoglycemia
HP:0002615Hypotension
HP:0002788Recurrent upper respiratory tract infections
HP:0002837Recurrent bronchitis
HP:0002902Hyponatremia
HP:0002920Decreased circulating ACTH level
HP:0004313Decreased circulating antibody level
HP:0004429Recurrent viral infections
HP:0005365Severe B lymphocytopenia
HP:0006532Recurrent pneumonia
HP:0008163Decreased circulating cortisol level
HP:0011108Recurrent sinusitis
HP:0011735Adrenocorticotropin deficient adrenal insufficiency
HP:0012378Fatigue
HP:0100776Recurrent pharyngitis
Частый (30–79%)6
HP:0001596Alopecia
HP:0002110Bronchiectasis
HP:0004332Abnormal lymphocyte morphology
HP:0008404Nail dystrophy
HP:0012504Abnormal size of pituitary gland
HP:0100803Abnormality of the periungual region
Периодический (5–29%)11
HP:0000651Diplopia
HP:0000824Decreased response to growth hormone stimulation test
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001973Autoimmune thrombocytopenia
HP:0002121Generalized non-motor (absence) seizure
HP:0003765Psoriasiform dermatitis
HP:0007418Alopecia totalis
HP:0030349Decreased circulating androgen level
HP:0030353Decreased serum insulin-like growth factor 1
HP:0100806Sepsis
Исключён (0%)4
HP:0001045Vitiligo
HP:0002153Hyperkalemia
HP:0030057Autoimmune antibody positivity
HP:0100646Thyroiditis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)