KEGG DISEASE: モノソミー7骨髄異形成および白血病症候群

DISEASE: モノソミー7骨髄異形成および白血病症候群

エントリ

H02878

名称

モノソミー7骨髄異形成および白血病症候群

概要

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.

カテゴリ

がん

階層分類

ICD-11 による疾患分類 [BR:jp08403]
02 腫瘍
  造血またはリンパ組織の腫瘍
   骨髄異形成症候群
    2A3Y  その他の明示された骨髄異形成症候群
     H02878  モノソミー7骨髄異形成および白血病症候群

病因遺伝子

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

リンク

ICD-11:

2A3Y

MeSH:

C565370

OMIM:

252270 619041

文献

PMID:19358830

著者

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

タイトル

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

雑誌

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

文献

PMID:30046003

著者

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

タイトル

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

雑誌

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

文献

PMID:38649131

著者

Cammenga J

タイトル

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

雑誌

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

LinkDB

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