Preferred Name

Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

ID

http://www.orpha.net/ORDO/Orphanet_402023

alternative_term

Megakaryoblastic AML with t(1;22)(p13;q13)

definition

Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402023

hasDbXref

ICD-10:C94.2

label

Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

notation

ORPHA:402023

part_of

http://www.orpha.net/ORDO/Orphanet_98277

prefixIRI

ORDO:Orphanet_402023

prefLabel

Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

treeView

http://www.orpha.net/ORDO/Orphanet_98277

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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http://purl.obolibrary.org/obo/MONDO_0018436 Mondo Disease Ontology / Mondo疾病本体 LOOM