KEGG   DISEASE: Diamond-Blackfan anemiaHelp
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 [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00237  Diamond-Blackfan anemia
 Other congenital disorders
  Ribosomopathies
   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
BRITE hierarchy
Pathway
hsa03010  Ribosome
Gene
(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]
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
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
  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
  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
  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
  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
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