KEGG   DISEASE: Diamond-Blackfan anemia
H00237                      Disease                                

Diamond-Blackfan anemia
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.
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00237  Diamond-Blackfan anemia
 Other congenital disorders
   H00237  Diamond-Blackfan anemia
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
hsa03010  Ribosome
(DBA) 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]
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
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
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
Br J Haematol 142:859-76 (2008)
Flygare J, Karlsson S
Diamond-Blackfan anemia: erythropoiesis lost in translation.
Blood 109:3152-4 (2007)
Gazda HT, Sieff CA
Recent insights into the pathogenesis of Diamond-Blackfan anaemia.
Br J Haematol 135:149-57 (2006)
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
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Am J Hum Genet 86:222-8 (2010)
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
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
Hum Genet 132:1265-74 (2013)
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
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
Blood 124:24-32 (2014)
Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Am J Med Genet A 164A:2240-9 (2014)
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
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
J Med Genet 54:417-425 (2017)
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
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.
Haematologica 102:e93-e96 (2017)

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