Hypohidrotic ectodermal dysplasia with immunodeficiency
ORPHA:98813DiseaseAutosomal dominant, X-linked recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)34
Очень частый (80–99%)8
HP:0000698Conical tooth
HP:0000966Hypohidrosis
HP:0000968Ectodermal dysplasia
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002718Recurrent bacterial infections
HP:0008070Sparse hair
HP:0010701Abnormal immunoglobulin level
Частый (30–79%)8
HP:0000403Recurrent otitis media
HP:0002028Chronic diarrhea
HP:0002037Inflammation of the large intestine
HP:0002728Chronic mucocutaneous candidiasis
HP:0005404Increased B cell count
HP:0011274Recurrent mycobacterial infections
HP:0033581Absent peripheral lymph nodes in presence of infection
HP:0100828Increased T cell count
Периодический (5–29%)18
HP:0000938Osteopenia
HP:0000964Eczematoid dermatitis
HP:0002720Decreased circulating IgA level
HP:0002850Decreased circulating total IgM
HP:0002960Autoimmunity
HP:0003212Increased circulating IgE level
HP:0003237Increased circulating IgG level
HP:0003496Increased circulating IgM level
HP:0004313Decreased circulating antibody level
HP:0004315Decreased circulating IgG level
HP:0008404Nail dystrophy
HP:0008872Feeding difficulties in infancy
HP:0010741Pedal edema
HP:0011108Recurrent sinusitis
HP:0020101Invasive fungal infection
HP:0031188Genital edema
HP:0031691Severe viral infection
HP:0040075Hypopituitarism
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)