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Acquired idiopathic sideroblastic anemia

ORPHA:75564DiseaseNot applicableAdult

Ассоциированные гены (2)

TET2
tet methylcytosine dioxygenase 2
Disease-causing somatic mutation(s) in
OMIM: 612839
SF3B1
splicing factor 3b subunit 1
Disease-causing somatic mutation(s) in
OMIM: 605590

Фенотипы (28)

Очень частый (80–99%)2
HP:0004828Refractory anemia with ringed sideroblasts
HP:0010972Anemia of inadequate production
Частый (30–79%)5
HP:0000980Pallor
HP:0001895Normochromic anemia
HP:0001897Normocytic anemia
HP:0012132Erythroid hyperplasia
HP:0200143Megaloblastic erythroid hyperplasia
Периодический (5–29%)11
HP:0001231Abnormal fingernail morphology
HP:0001744Splenomegaly
HP:0001873Thrombocytopenia
HP:0001931Hypochromic anemia
HP:0002240Hepatomegaly
HP:0002863Myelodysplasia
HP:0011447Hyposegmentation of neutrophil nuclei
HP:0012136Dysplastic granulopoesis
HP:0012137Abnormal number of granulocyte precursors
HP:0012143Abnormal megakaryocyte morphology
HP:0031035Chronic infection
Очень редкий (1–4%)10
HP:0001635Congestive heart failure
HP:0001875Decreased total neutrophil count
HP:0001876Pancytopenia
HP:0001892Abnormal bleeding
HP:0001894Thrombocytosis
HP:0001913Granulocytopenia
HP:0001974Leukocytosis
HP:0004808Acute myeloid leukemia
HP:0005513Increased megakaryocyte count
HP:0005528Bone marrow hypocellularity

Эпидемиология (2)

Point prevalence
1-9 / 100 000
Europe
Annual incidence
<1 / 1 000 000
Europe

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы