KEGG   DISEASE: Diamond-Blackfan anemia
Entry
H00237                      Disease                                
Name
Diamond-Blackfan anemia
Description
Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous congenital erythroid aplasia that develops within the first year of life. Faulty ribosome biogenesis is hypothesized to be the underlying defect, leading to erythroid failure due to accelerated apoptosis in affected erythroid progenitors/precursors.
Category
Ribosomopathy
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Pure red cell aplasia
    3A60  Congenital pure red cell aplasia
     H00237  Diamond-Blackfan anemia
Pathway
hsa03010  Ribosome
Gene
(DBA1) RPS19 [HSA:6223] [KO:K02966]
(DBA3) RPS24 [HSA:6229] [KO:K02974]
(DBA4) RPS17 [HSA:6218] [KO:K02962]
(DBA5) RPL35A [HSA:6165] [KO:K02917]
(DBA6) RPL5 [HSA:6125] [KO:K02932]
(DBA7) RPL11 [HSA:6135] [KO:K02868]
(DBA8) RPS7 [HSA:6201] [KO:K02993]
(DBA9) RPS10 [HSA:6204] [KO:K02947]
(DBA10) RPS26 [HSA:6231] [KO:K02976]
(DBA11) RPL26 [HSA:6154] [KO:K02898]
(DBA12) RPL15 [HSA:6138] [KO:K02877]
(DBA13) RPS29 [HSA:6235] [KO:K02980]
(DBA14) TSR2 [HSA:90121] [KO:K14800]
(DBA15) RPS28 [HSA:6234] [KO:K02979]
(DBA16) RPL27 [HSA:6155] [KO:K02901]
(DBA17) RPS27 [HSA:6232] [KO:K02978]
(DBA18) RPL18 [HSA:6141] [KO:K02883]
(DBA19) RPL35 [HSA:11224] [KO:K02918]
(DBA20) RPS15A [HSA:6210] [KO:K02957]
(DBA21) HEATR3 [HSA:55027] [KO:K24812]
Drug
Triamcinolone acetonide [DR:D00983]
Dexamethasone [DR:D00292]
Hydrocortisone sodium succinate [DR:D00978]
Prednisolone sodium phosphate [DR:D00981]
Prednisone [DR:D00473]
Methylprednisolone sodium succinate [DR:D00751]
Methylprednisolone acetate [DR:D00979]
Other DBs
ICD-11: 3A60.1
ICD-10: D61.0
MeSH: D029503
OMIM: 105650 610629 612527 612528 612561 612562 612563 613308 613309 614900 615550 615909 300946 606164 617408 617409 618310 618312 618313 620072
Reference
  Authors
Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM
  Title
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
  Journal
Br J Haematol 142:859-76 (2008)
DOI:10.1111/j.1365-2141.2008.07269.x
Reference
  Authors
Flygare J, Karlsson S
  Title
Diamond-Blackfan anemia: erythropoiesis lost in translation.
  Journal
Blood 109:3152-4 (2007)
DOI:10.1182/blood-2006-09-001222
Reference
  Authors
Gazda HT, Sieff CA
  Title
Recent insights into the pathogenesis of Diamond-Blackfan anaemia.
  Journal
Br J Haematol 135:149-57 (2006)
DOI:10.1111/j.1365-2141.2006.06268.x
Reference
PMID:9988267 (DBA1)
  Authors
Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N
  Title
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
  Journal
Nat Genet 21:169-75 (1999)
DOI:10.1038/5951
Reference
PMID:17186470 (DBA3)
  Authors
Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA
  Title
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
  Journal
Am J Hum Genet 79:1110-8 (2006)
DOI:10.1086/510020
Reference
PMID:17647292 (DBA4)
  Authors
Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D
  Title
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
  Journal
Hum Mutat 28:1178-82 (2007)
DOI:10.1002/humu.20608
Reference
PMID:18535205 (DBA5)
  Authors
Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, Talbot CC Jr, Meltzer P, Esposito D, Beggs AH, Schneider HE, Grabowska A, Ball SE, Niewiadomska E, Sieff CA, Vlachos A, Atsidaftos E, Ellis SR, Lipton JM, Gazda HT, Arceci RJ
  Title
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
  Journal
Blood 112:1582-92 (2008)
DOI:10.1182/blood-2008-02-140012
Reference
PMID:19061985 (DBA6 DBA7 DBA8)
  Authors
Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH
  Title
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
  Journal
Am J Hum Genet 83:769-80 (2008)
DOI:10.1016/j.ajhg.2008.11.004
Reference
PMID:20116044 (DBA9 DBA10)
  Authors
Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT
  Title
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
  Journal
Am J Hum Genet 86:222-8 (2010)
DOI:10.1016/j.ajhg.2009.12.015
Reference
PMID:22431104 (DBA11)
  Authors
Gazda HT, Preti M, Sheen MR, O'Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH
  Title
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
  Journal
Hum Mutat 33:1037-44 (2012)
DOI:10.1002/humu.22081
Reference
PMID:23812780 (DBA12)
  Authors
Landowski M, O'Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, Gazda HT
  Title
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
  Journal
Hum Genet 132:1265-74 (2013)
DOI:10.1007/s00439-013-1326-z
Reference
PMID:24829207 (DBA13)
  Authors
Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA
  Title
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
  Journal
Blood 124:24-32 (2014)
DOI:10.1182/blood-2013-11-540278
Reference
PMID:24942156 (DBA14 DBA15)
  Authors
Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
  Title
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
  Journal
Am J Med Genet A 164A:2240-9 (2014)
DOI:10.1002/ajmg.a.36633
Reference
PMID:25424902 (DBA16 DBA17)
  Authors
Wang R, Yoshida K, Toki T, Sawada T, Uechi T, Okuno Y, Sato-Otsubo A, Kudo K, Kamimaki I, Kanezaki R, Shiraishi Y, Chiba K, Tanaka H, Terui K, Sato T, Iribe Y, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Hara J, Goi K, Matsubara K, Koike K, Ishiguro A, Okamoto Y, Watanabe K, Kanno H, Kojima S, Miyano S, Kenmochi N, Ogawa S, Ito E
  Title
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
  Journal
Br J Haematol 168:854-64 (2015)
DOI:10.1111/bjh.13229
Reference
PMID:28280134 (DBA18 DBA19)
  Authors
Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA
  Title
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
  Journal
J Med Genet 54:417-425 (2017)
DOI:10.1136/jmedgenet-2016-104346
Reference
PMID:27909223 (DBA20)
  Authors
Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, Sasahara Y, Okuno Y, Kanezaki R, Terui K, Kamio T, Kobayashi A, Fujita T, Sato-Otsubo A, Shiraishi Y, Tanaka H, Chiba K, Muramatsu H, Kanno H, Ohga S, Ohara A, Kojima S, Kenmochi N, Miyano S, Ogawa S, Ito E
  Title
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.
  Journal
Haematologica 102:e93-e96 (2017)
DOI:10.3324/haematol.2016.153932
Reference
PMID:35213692 (DBA21)
  Authors
O'Donohue MF, Da Costa L, Lezzerini M, Unal S, Joret C, Bartels M, Brilstra E, Scheijde-Vermeulen M, Wacheul L, De Keersmaecker K, Vereecke S, Labarque V, Saby M, Lefevre SD, Platon J, Montel-Lehry N, Laugero N, Lacazette E, van Gassen K, Houtkooper RH, Simsek-Kiper PO, Leblanc T, Yarali N, Cetinkaya A, Akarsu NA, Gleizes PE, Lafontaine DLJ, MacInnes AW
  Title
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
  Journal
Blood 139:3111-3126 (2022)
DOI:10.1182/blood.2021011846
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