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Diamond-Blackfan anemia 17(DBA17)

MedGen UID:
1373199
Concept ID:
C4479428
Disease or Syndrome
Synonym: DBA17
 
Gene (location): RPS27 (1q21.3)
 
Monarch Initiative: MONDO:0044310
OMIM®: 617409

Clinical features

From HPO
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.

Professional guidelines

PubMed

Vogel N, Schmugge M, Renella R, Waespe N, Hengartner H; Swiss Paediatric Oncology Group (SPOG) Hematology Working Group
Eur J Pediatr 2021 Dec;180(12):3581-3585. Epub 2021 Jun 10 doi: 10.1007/s00431-021-04146-4. PMID: 34110484
Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M
Int J Mol Sci 2020 Jun 30;21(13) doi: 10.3390/ijms21134672. PMID: 32630050Free PMC Article
Rao PV, Lu X, Pattee P, Turner M, Nandgaonkar S, Paturi BT, Roberts CT Jr, Nagalla SR
J Assoc Physicians India 2005 Jun;53:521-6. PMID: 16121806

Recent clinical studies

Etiology

Martin ES, Ferrer A, Mangaonkar AA, Khan SP, Kohorst MA, Joshi AY, Hogan WJ, Olteanu H, Moyer AM, Al-Kali A, Tefferi A, Chen D, Wudhikarn K, Go R, Viswanatha D, He R, Ketterling R, Nguyen PL, Oliveira JL, Gangat N, Lasho T, Patnaik MM
Am J Hematol 2021 Nov 1;96(11):1450-1460. Epub 2021 Aug 27 doi: 10.1002/ajh.26321. PMID: 34390506
Vogel N, Schmugge M, Renella R, Waespe N, Hengartner H; Swiss Paediatric Oncology Group (SPOG) Hematology Working Group
Eur J Pediatr 2021 Dec;180(12):3581-3585. Epub 2021 Jun 10 doi: 10.1007/s00431-021-04146-4. PMID: 34110484
Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M
Int J Mol Sci 2020 Jun 30;21(13) doi: 10.3390/ijms21134672. PMID: 32630050Free PMC Article
Strahm B, Loewecke F, Niemeyer CM, Albert M, Ansari M, Bader P, Bertrand Y, Burkhardt B, Da Costa LM, Ferster A, Fischer A, Güngör T, Gruhn B, Hainmann I, Kapp F, Lang P, Müller I, Schulz A, Szvetnik A, Wlodarski M, Noellke P, Leblanc T, Dalle JH
Blood Adv 2020 Apr 28;4(8):1760-1769. doi: 10.1182/bloodadvances.2019001210. PMID: 32343795Free PMC Article
Bannon SA, DiNardo CD
Int J Mol Sci 2016 May 30;17(6) doi: 10.3390/ijms17060838. PMID: 27248996Free PMC Article

Diagnosis

Martin ES, Ferrer A, Mangaonkar AA, Khan SP, Kohorst MA, Joshi AY, Hogan WJ, Olteanu H, Moyer AM, Al-Kali A, Tefferi A, Chen D, Wudhikarn K, Go R, Viswanatha D, He R, Ketterling R, Nguyen PL, Oliveira JL, Gangat N, Lasho T, Patnaik MM
Am J Hematol 2021 Nov 1;96(11):1450-1460. Epub 2021 Aug 27 doi: 10.1002/ajh.26321. PMID: 34390506
Vogel N, Schmugge M, Renella R, Waespe N, Hengartner H; Swiss Paediatric Oncology Group (SPOG) Hematology Working Group
Eur J Pediatr 2021 Dec;180(12):3581-3585. Epub 2021 Jun 10 doi: 10.1007/s00431-021-04146-4. PMID: 34110484
Da Costa L, Moniz H, Simansour M, Tchernia G, Mohandas N, Leblanc T
Transfus Clin Biol 2010 Sep;17(3):112-9. Epub 2010 Jul 23 doi: 10.1016/j.tracli.2010.06.001. PMID: 20655265Free PMC Article
Verlinsky Y, Rechitsky S, Sharapova T, Morris R, Taranissi M, Kuliev A
JAMA 2004 May 5;291(17):2079-85. doi: 10.1001/jama.291.17.2079. PMID: 15126435
Ohga S, Mugishima H, Ohara A, Kojima S, Fujisawa K, Yagi K, Higashigawa M, Tsukimoto I; Aplastic Anemia Committee Japanese Society of Pediatric Hematology
Int J Hematol 2004 Jan;79(1):22-30. doi: 10.1007/BF02983529. PMID: 14979474

Therapy

Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M
Int J Mol Sci 2020 Jun 30;21(13) doi: 10.3390/ijms21134672. PMID: 32630050Free PMC Article
Strahm B, Loewecke F, Niemeyer CM, Albert M, Ansari M, Bader P, Bertrand Y, Burkhardt B, Da Costa LM, Ferster A, Fischer A, Güngör T, Gruhn B, Hainmann I, Kapp F, Lang P, Müller I, Schulz A, Szvetnik A, Wlodarski M, Noellke P, Leblanc T, Dalle JH
Blood Adv 2020 Apr 28;4(8):1760-1769. doi: 10.1182/bloodadvances.2019001210. PMID: 32343795Free PMC Article
Da Costa L, Moniz H, Simansour M, Tchernia G, Mohandas N, Leblanc T
Transfus Clin Biol 2010 Sep;17(3):112-9. Epub 2010 Jul 23 doi: 10.1016/j.tracli.2010.06.001. PMID: 20655265Free PMC Article
Ohga S, Mugishima H, Ohara A, Kojima S, Fujisawa K, Yagi K, Higashigawa M, Tsukimoto I; Aplastic Anemia Committee Japanese Society of Pediatric Hematology
Int J Hematol 2004 Jan;79(1):22-30. doi: 10.1007/BF02983529. PMID: 14979474
Abkowitz JL, Schaison G, Boulad F, Brown DL, Buchanan GR, Johnson CA, Murray JC, Sabo KM
Blood 2002 Oct 15;100(8):2687-91. doi: 10.1182/blood.V100.8.2687. PMID: 12351372

Prognosis

Delaporta P, Sofocleous C, Stiakaki E, Polychronopoulou S, Economou M, Kossiva L, Kostaridou S, Kattamis A
Pediatr Blood Cancer 2014 Dec;61(12):2249-55. Epub 2014 Aug 17 doi: 10.1002/pbc.25183. PMID: 25132370
Garceau P, Nguyen ET, Carasso S, Ross H, Pendergrast J, Moravsky G, Bruchal-Garbicz B, Rakowski H
Heart 2011 Mar;97(5):388-93. doi: 10.1136/hrt.2010.192641. PMID: 21296782
Da Costa L, Moniz H, Simansour M, Tchernia G, Mohandas N, Leblanc T
Transfus Clin Biol 2010 Sep;17(3):112-9. Epub 2010 Jul 23 doi: 10.1016/j.tracli.2010.06.001. PMID: 20655265Free PMC Article
Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Ravel-Vilk S, Bitan M, Kaplinsky C, Ben Barak A, Elhasid R, Kapelusnik J, Koren A, Levin C, Attias D, Laor R, Yaniv I, Rosenberg PS, Alter BP
Haematologica 2010 Aug;95(8):1300-7. Epub 2010 Apr 30 doi: 10.3324/haematol.2009.018119. PMID: 20435624Free PMC Article
Ohga S, Mugishima H, Ohara A, Kojima S, Fujisawa K, Yagi K, Higashigawa M, Tsukimoto I; Aplastic Anemia Committee Japanese Society of Pediatric Hematology
Int J Hematol 2004 Jan;79(1):22-30. doi: 10.1007/BF02983529. PMID: 14979474

Clinical prediction guides

Fan X, Desmond R, Winkler T, Young DJ, Dumitriu B, Townsley DM, Gutierrez-Rodrigues F, Lotter J, Valdez J, Sellers SE, Barranta ME, Shalhoub RN, Wu CO, Albitar M, Calvo KR, Young NS, Dunbar CE
Blood Adv 2020 Apr 28;4(8):1700-1710. doi: 10.1182/bloodadvances.2020001657. PMID: 32330244Free PMC Article
Delaporta P, Sofocleous C, Stiakaki E, Polychronopoulou S, Economou M, Kossiva L, Kostaridou S, Kattamis A
Pediatr Blood Cancer 2014 Dec;61(12):2249-55. Epub 2014 Aug 17 doi: 10.1002/pbc.25183. PMID: 25132370
Chen S, Warszawski J, Bader-Meunier B, Tchernia G, Da Costa L, Marie I, Dommergues JP; Société Française d'Hématologie et d'Immunologie Pédiatrique
J Pediatr 2005 Nov;147(5):669-73. doi: 10.1016/j.jpeds.2005.06.007. PMID: 16291361
Roy V, Pérez WS, Eapen M, Marsh JC, Pasquini M, Pasquini R, Mustafa MM, Bredeson CN; Non-Malignant Marrow Disorders Working Committee of the International Bone Marrow Transplant Registry
Biol Blood Marrow Transplant 2005 Aug;11(8):600-8. doi: 10.1016/j.bbmt.2005.05.005. PMID: 16041310
Ohga S, Mugishima H, Ohara A, Kojima S, Fujisawa K, Yagi K, Higashigawa M, Tsukimoto I; Aplastic Anemia Committee Japanese Society of Pediatric Hematology
Int J Hematol 2004 Jan;79(1):22-30. doi: 10.1007/BF02983529. PMID: 14979474

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