Acute promyelocytic leukemia
ORPHA:520DiseaseNot applicableAdolescent, Adult, Childhood, Elderly
Ассоциированные гены13
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PML | PML nuclear body scaffold | Part of a fusion gene in | gene with protein product | 102578 |
| PRKAR1A | protein kinase cAMP-dependent type I regulatory subunit alpha | Part of a fusion gene in | gene with protein product | 188830 |
| RARA | retinoic acid receptor alpha | Part of a fusion gene in | gene with protein product | 180240 |
| STAT5B | signal transducer and activator of transcription 5B | Part of a fusion gene in | gene with protein product | 604260 |
| FIP1L1 | factor interacting with PAPOLA and CPSF1 | Part of a fusion gene in | gene with protein product | 607686 |
| NPM1 | nucleophosmin 1 | Part of a fusion gene in | gene with protein product | 164040 |
| NABP1 | nucleic acid binding protein 1 | Part of a fusion gene in | gene with protein product | 612103 |
| ZBTB16 | zinc finger and BTB domain containing 16 | Part of a fusion gene in | gene with protein product | 176797 |
| NUMA1 | nuclear mitotic apparatus protein 1 | Part of a fusion gene in | gene with protein product | 164009 |
| TBL1XR1 | TBL1X/Y related 1 | Part of a fusion gene in | gene with protein product | 608628 |
| IRF2BP2 | interferon regulatory factor 2 binding protein 2 | Part of a fusion gene in | gene with protein product | 615332 |
| STAT3 | signal transducer and activator of transcription 3 | Part of a fusion gene in | gene with protein product | 102582 |
| BCOR | BCL6 corepressor | Part of a fusion gene in | gene with protein product | 300485 |
Фенотипы (HPO)36
Частый (30–79%)21
HP:0000225Gingival bleeding
HP:0000421Epistaxis
HP:0000967Petechiae
HP:0000978Bruising susceptibility
HP:0000979Purpura
HP:0001324Muscle weakness
HP:0001824Weight loss
HP:0001873Thrombocytopenia
HP:0001876Pancytopenia
HP:0001882Leukopenia
HP:0001892Abnormal bleeding
HP:0001903Anemia
HP:0001945Fever
HP:0002039Anorexia
HP:0002321Vertigo
HP:0002875Exertional dyspnea
HP:0005521Disseminated intravascular coagulation
HP:0012378Fatigue
HP:0031020Bone marrow hypercellularity
HP:0031035Chronic infection
HP:0031364Ecchymosis
Периодический (5–29%)12
HP:0000212Gingival overgrowth
HP:0001875Decreased total neutrophil count
HP:0001974Leukocytosis
HP:0002027Abdominal pain
HP:0002653Bone pain
HP:0002716Lymphadenopathy
HP:0010280Stomatitis
HP:0011900Hypofibrinogenemia
HP:0025420Diffuse alveolar hemorrhage
HP:0030140Oral cavity bleeding
HP:0030955Alcoholism
HP:0031245Productive cough
Очень редкий (1–4%)3
HP:0000790Hematuria
HP:0100608Metrorrhagia
HP:0100758Gangrene
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.28 | United States | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.11 | Europe | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.3 | France | 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)