Autosomal dominant severe congenital neutropenia
ORPHA:486DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TCIRG1 | T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Disease-causing germline mutation(s) in | gene with protein product | 604592 |
| ELANE | elastase, neutrophil expressed | Disease-causing germline mutation(s) in | gene with protein product | 130130 |
| GFI1 | growth factor independent 1 transcriptional repressor | Disease-causing germline mutation(s) in | gene with protein product | 600871 |
| CLPB | ClpB family mitochondrial disaggregase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 616254 |
| SRP19 | signal recognition particle 19 | Disease-causing germline mutation(s) in | gene with protein product | 182175 |
Фенотипы (HPO)31
Облигатный (100%)1
HP:0001875Decreased total neutrophil count
Очень частый (80–99%)2
HP:0002718Recurrent bacterial infections
HP:0004429Recurrent viral infections
Частый (30–79%)16
HP:0000155Oral ulcer
HP:0000230Gingivitis
HP:0000704Periodontitis
HP:0001581Recurrent skin infections
HP:0001888Lymphopenia
HP:0001945Fever
HP:0002014Diarrhea
HP:0002027Abdominal pain
HP:0002090Pneumonia
HP:0004798Recurrent infection of the gastrointestinal tract
HP:0005425Recurrent sinopulmonary infections
HP:0011107Recurrent aphthous stomatitis
HP:0012311Monocytosis
HP:0012384Rhinitis
HP:0025439Pharyngitis
HP:0410018Recurrent ear infections
Периодический (5–29%)12
HP:0000938Osteopenia
HP:0001028Hemangioma
HP:0001880Eosinophilia
HP:0001909Leukemia
HP:0001915Aplastic anemia
HP:0002863Myelodysplasia
HP:0003453Antineutrophil antibody positivity
HP:0004808Acute myeloid leukemia
HP:0006480Premature loss of teeth
HP:0006721Acute lymphoblastic leukemia
HP:0025452Pyoderma gangrenosum
HP:0100658Cellulitis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| 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)