KEGG DISEASE: Monosomy 7 myelodysplasia and leukemia syndrome

KEGG

DISEASE: Monosomy 7 myelodysplasia and leukemia syndrome

Entry

H02878                      Disease

Name

Monosomy 7 myelodysplasia and leukemia syndrome

Description

Monosomy 7 myelodysplasia and leukemia syndrome (M7MLS) is a familial hematologic disorder. Affected individuals have a highly variable clinical course that ranges from mild and transient dyspoietic changes in the bone marrow to a rapid progression of myelodysplastic syndrome or acute myeloid leukemia with monosomy 7. It has been reported that germline gain-of-function mutations in SAMD9/SAMD9L are the genetic cause of M7MLS. SAMD9 and SAMD9L are two interferon-regulated genes located adjacent to each other on chromosome 7q21.2.

Category

Cancer

Brite

Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Myelodysplastic syndromes
    2A3Y  Other specified myelodysplastic syndromes
     H02878  Monosomy 7 myelodysplasia and leukemia syndrome

Gene

(M7MLS1) SAMD9L [HSA:219285] [KO:K23949]
(M7MLS2) SAMD9 [HSA:54809] [KO:K23949]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Asou H, Matsui H, Ozaki Y, Nagamachi A, Nakamura M, Aki D, Inaba T

Title

Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome.

Journal

Biochem Biophys Res Commun 383:245-51 (2009)
DOI:10.1016/j.bbrc.2009.04.004

Reference

Authors

Wong JC, Bryant V, Lamprecht T, Ma J, Walsh M, Schwartz J, Del Pilar Alzamora M, Mullighan CG, Loh ML, Ribeiro R, Downing JR, Carroll WL, Davis J, Gold S, Rogers PC, Israels S, Yanofsky R, Shannon K, Klco JM

Title

Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.

Journal

JCI Insight 3:121086 (2018)
DOI:10.1172/jci.insight.121086

Reference

Authors

Cammenga J

Title

Of gains and losses: SAMD9/SAMD9L and monosomy 7 in myelodysplastic syndrome.

Journal

Exp Hematol 134:104217 (2024)
DOI:10.1016/j.exphem.2024.104217

LinkDB

» Japanese version

DBGET integrated database retrieval system