Chronic granulomatous disease
ORPHA:379DiseaseAutosomal recessive, X-linked recessiveAdolescent, Adult, Childhood, Infancy
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CYBB | cytochrome b-245 beta chain | Disease-causing germline mutation(s) in | gene with protein product | 300481 |
| NCF1 | neutrophil cytosolic factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 608512 |
| NCF2 | neutrophil cytosolic factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 608515 |
| CYBA | cytochrome b-245 alpha chain | Disease-causing germline mutation(s) in | gene with protein product | 608508 |
| NCF4 | neutrophil cytosolic factor 4 | Disease-causing germline mutation(s) in | gene with protein product | 601488 |
| CYBC1 | cytochrome b-245 chaperone 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 618334 |
Фенотипы (HPO)22
Очень частый (80–99%)14
HP:0000246Sinusitis
HP:0000388Otitis media
HP:0000992Cutaneous photosensitivity
HP:0001034Hypermelanotic macule
HP:0001874Abnormality of neutrophils
HP:0001945Fever
HP:0002021Pyloric stenosis
HP:0002024Malabsorption
HP:0002205Recurrent respiratory infections
HP:0002240Hepatomegaly
HP:0002575Tracheoesophageal fistula
HP:0006510Chronic pulmonary obstruction
HP:0012733Macule
HP:0100721Mediastinal lymphadenopathy
Периодический (5–29%)8
HP:0000230Gingivitis
HP:0000964Eczematoid dermatitis
HP:0001287Meningitis
HP:0001744Splenomegaly
HP:0100523Liver abscess
HP:0100533Inflammatory abnormality of the eye
HP:0100806Sepsis
HP:0200042Skin ulcer
Эпидемиология27
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.46 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | United States | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | United States | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | United Kingdom | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.57 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | France | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.22 | Sweden | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Sweden | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 | Italy | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Italy | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 | Denmark | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Denmark | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.48 | Netherlands | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Netherlands | Class only |
| Point prevalence | <1 / 1 000 000 | 0.08 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.35 | Japan | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Japan | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 | Korea, Republic of | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Korea, Republic of | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.99 | Latin America | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Latin America | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.53 | Israel | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Israel | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)