Myelodysplastic syndromes

Also known as: MDS

Clonal stem cell disorders with ineffective hematopoiesis and risk of leukemia.

Medical specialty: Hematology
Subspecialty: Hematology / Myeloid neoplasms
Sex & age distribution: Male: affected; Female: affected; Children: rare
Gene(s) involved: ASXL1, DDX41, DNMT3A, EZH2, GATA2, RUNX1, SF3B1, SRSF2, TET2, TP53, U2AF1

Etiology & mechanism

Somatic mutations in splicing and epigenetic genes.

Gene(s) involved (11)

ASXL1DDX41DNMT3AEZH2GATA2RUNX1SF3B1SRSF2TET2TP53U2AF1

Symptoms & signs (7)

anemiableedingbruisingdyspneafatigueinfectionsleukemia

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.