KEGG   DISEASE: Bone marrow failure syndrome
Entry
H02529                      Disease                                
Name
Bone marrow failure syndrome
  Subgroup
AMED syndrome (BMFS7)
Ziegler-Huang syndrome (BMFS8)
Bone marrow failure and diabetes mellitus syndrome (BMFDMS)
Description
Bone marrow failure syndromes are a heterogeneous group of life-threatening disorders characterized by the inability of the bone marrow to make an adequate number of mature blood cells.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A70  Aplastic anaemia
    H02529  Bone marrow failure syndrome
Pathway
hsa04115  p53 signaling pathway
Gene
(BMFS1) SRP72 [HSA:6731] [KO:K03108]
(BMFS2) ERCC6L2 [HSA:375748] [KO:K20098]
(BMFS3) DNAJC21 [HSA:134218] [KO:K09506]
(BMFS4) MYSM1 [HSA:114803] [KO:K11865]
(BMFS5) TP53 [HSA:7157] [KO:K04451]
(BMFS6) MDM4 [HSA:4194] [KO:K10127]
(BMFS7) ADH5 [HSA:128] [KO:K00121]
(BMFS8) SLC30A7 [HSA:148867] [KO:K14692]
(BMFDMS) DUT [HSA:1854] [KO:K01520]
Other DBs
ICD-11: 3A70.0
MeSH: D000080984
OMIM: 614675 615715 617052 618116 618165 618849 619151 620501 620044
Reference
PMID:22541560 (BMFS1)
  Authors
Kirwan M, Walne AJ, Plagnol V, Velangi M, Ho A, Hossain U, Vulliamy T, Dokal I
  Title
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.
  Journal
Am J Hum Genet 90:888-92 (2012)
DOI:10.1016/j.ajhg.2012.03.020
Reference
PMID:24507776 (BMFS2)
  Authors
Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C, Plagnol V, Vulliamy T, Dokal I
  Title
ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
  Journal
Am J Hum Genet 94:246-56 (2014)
DOI:10.1016/j.ajhg.2014.01.007
Reference
PMID:28062395 (BMFS3)
  Authors
Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y
  Title
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
  Journal
Blood 129:1557-1562 (2017)
DOI:10.1182/blood-2016-08-735431
Reference
PMID:24288411 (BMFS4)
  Authors
Alsultan A, Shamseldin HE, Osman ME, Aljabri M, Alkuraya FS
  Title
MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts.
  Journal
Blood 122:3844-5 (2013)
DOI:10.1182/blood-2013-09-527127
Reference
PMID:23770245 (BMFS5)
  Authors
Simeonova I, Jaber S, Draskovic I, Bardot B, Fang M, Bouarich-Bourimi R, Lejour V, Charbonnier L, Soudais C, Bourdon JC, Huerre M, Londono-Vallejo A, Toledo F
  Title
Mutant mice lacking the p53 C-terminal domain model telomere syndromes.
  Journal
Cell Rep 3:2046-58 (2013)
DOI:10.1016/j.celrep.2013.05.028
Reference
PMID:32300648 (BMFS6)
  Authors
Toufektchan E, Lejour V, Durand R, Giri N, Draskovic I, Bardot B, Laplante P, Jaber S, Alter BP, Londono-Vallejo JA, Savage SA, Toledo F
  Title
Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance.
  Journal
Sci Adv 6:eaay3511 (2020)
DOI:10.1126/sciadv.aay3511
Reference
PMID:33355142 (BMFS7/AMED)
  Authors
Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T
  Title
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
  Journal
Sci Adv 6:eabd7197 (2020)
DOI:10.1126/sciadv.abd7197
Reference
PMID:36821639 (BMFS8/ZHS)
  Authors
Huang L, Yang Z, Kirschke CP, Prouteau C, Copin MC, Bonneau D, Pellier I, Coutant R, Miot C, Ziegler A
  Title
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow  failure.
  Journal
Hum Mol Genet 32:2016-2031 (2023)
DOI:10.1093/hmg/ddad033
Reference
PMID:28073829 (BMFDMS)
  Authors
Dos Santos RS, Daures M, Philippi A, Romero S, Marselli L, Marchetti P, Senee V, Bacq D, Besse C, Baz B, Marroqui L, Ivanoff S, Masliah-Planchon J, Nicolino M, Soulier J, Socie G, Eizirik DL, Gautier JF, Julier C
  Title
dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.
  Journal
Diabetes 66:1086-1096 (2017)
DOI:10.2337/db16-0839
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