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Diamond-Blackfan anemia 16(DBA16)

MedGen UID:
1385861
•Concept ID:
C4479424
•
Disease or Syndrome
Synonym: DBA16
 
Gene (location): RPL27 (17q21.31)
 
Monarch Initiative: MONDO:0044309
OMIM®: 617408

Clinical features

From HPO
Atrial septal defect
MedGen UID:
6753
•Concept ID:
C0018817
•
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
See: Feature record | Search on this feature
Pulmonic stenosis
MedGen UID:
408291
•Concept ID:
C1956257
•
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
See: Feature record | Search on this feature
Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U
Haematologica 2010 Feb;95(2):206-13. Epub 2009 Sep 22 doi: 10.3324/haematol.2009.011783. PMID: 19773262Free PMC Article
Diamond-Blackfan anemia. Natural history and sequelae of treatment.
Janov AJ, Leong T, Nathan DG, Guinan EC
Medicine (Baltimore) 1996 Mar;75(2):77-8. doi: 10.1097/00005792-199603000-00004. PMID: 8606629
Diagnosis and management of red cell aplasia in children.
Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

Recent clinical studies

Etiology

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.
Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589
Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes.
Sakaguchi H, Yoshida N
Int J Hematol 2022 Jul;116(1):16-27. Epub 2022 May 28 doi: 10.1007/s12185-022-03362-4. PMID: 35633493
Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.
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
Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.
Kapralova K, Jahoda O, Koralkova P, Gursky J, Lanikova L, Pospisilova D, Divoky V, Horvathova M
Int J Mol Sci 2020 Dec 17;21(24) doi: 10.3390/ijms21249652. PMID: 33348919Free PMC Article
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U
Haematologica 2010 Feb;95(2):206-13. Epub 2009 Sep 22 doi: 10.3324/haematol.2009.011783. PMID: 19773262Free PMC Article

Diagnosis

Diagnosis of Diamond-Blackfan anemia in adulthood: case series and review of the literature.
Versino F, Bianchi P, Fermo E, Barcellini W, Fattizzo B
Orphanet J Rare Dis 2024 Dec 19;19(1):470. doi: 10.1186/s13023-024-03490-6. PMID: 39702189Free PMC Article
A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.
Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589
Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes.
Sakaguchi H, Yoshida N
Int J Hematol 2022 Jul;116(1):16-27. Epub 2022 May 28 doi: 10.1007/s12185-022-03362-4. PMID: 35633493
Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.
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
Diamond-Blackfan syndrome. II. In vitro corticosteroid effect on erythropoiesis.
Chan HS, Saunders EF, Freedman MH
Pediatr Res 1982 Jun;16(6):477-8. doi: 10.1203/00006450-198206000-00015. PMID: 7099764

Therapy

Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems.
Macečková Z, Kubíčková A, De Sanctis JB, Hajdúch M
Int J Mol Sci 2022 Feb 8;23(3) doi: 10.3390/ijms23031886. PMID: 35163808Free PMC Article
Favorable outcomes of hematopoietic stem cell transplantation in children and adolescents with Diamond-Blackfan anemia.
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
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
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
J Med Genet 2017 Jun;54(6):417-425. Epub 2017 Mar 9 doi: 10.1136/jmedgenet-2016-104346. PMID: 28280134
Clinico-haematological profile of pure red cell aplasia in children.
Marwaha RK, Bansal D, Trehan A, Marwaha N, Varma N
J Trop Pediatr 2002 Apr;48(2):113-6. doi: 10.1093/tropej/48.2.113. PMID: 12022425
Diamond-blackfan anemia and cyclosporine therapy revisited.
Alessandri AJ, Rogers PC, Wadsworth LD, Davis JH
J Pediatr Hematol Oncol 2000 Mar-Apr;22(2):176-9. doi: 10.1097/00043426-200003000-00020. PMID: 10779036

Prognosis

Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.
Kapralova K, Jahoda O, Koralkova P, Gursky J, Lanikova L, Pospisilova D, Divoky V, Horvathova M
Int J Mol Sci 2020 Dec 17;21(24) doi: 10.3390/ijms21249652. PMID: 33348919Free PMC Article
Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders.
Wakabayashi A, Ulirsch JC, Ludwig LS, Fiorini C, Yasuda M, Choudhuri A, McDonel P, Zon LI, Sankaran VG
Proc Natl Acad Sci U S A 2016 Apr 19;113(16):4434-9. Epub 2016 Apr 4 doi: 10.1073/pnas.1521754113. PMID: 27044088Free PMC Article
Central venous catheter thrombosis as a cause of SVC obstruction and cardiac tamponade in a patient with Diamond-Blackfan anemia and iron overload.
Norris ML, Klaassen R
Pediatr Blood Cancer 2006 Jan;46(1):112-4. doi: 10.1002/pbc.20368. PMID: 15768384
Diamond-Blackfan anemia. Natural history and sequelae of treatment.
Janov AJ, Leong T, Nathan DG, Guinan EC
Medicine (Baltimore) 1996 Mar;75(2):77-8. doi: 10.1097/00005792-199603000-00004. PMID: 8606629
Diagnosis and management of red cell aplasia in children.
Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

Clinical prediction guides

Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia.
Kapralova K, Jahoda O, Koralkova P, Gursky J, Lanikova L, Pospisilova D, Divoky V, Horvathova M
Int J Mol Sci 2020 Dec 17;21(24) doi: 10.3390/ijms21249652. PMID: 33348919Free PMC Article
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
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
J Med Genet 2017 Jun;54(6):417-425. Epub 2017 Mar 9 doi: 10.1136/jmedgenet-2016-104346. PMID: 28280134
Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders.
Wakabayashi A, Ulirsch JC, Ludwig LS, Fiorini C, Yasuda M, Choudhuri A, McDonel P, Zon LI, Sankaran VG
Proc Natl Acad Sci U S A 2016 Apr 19;113(16):4434-9. Epub 2016 Apr 4 doi: 10.1073/pnas.1521754113. PMID: 27044088Free PMC Article
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U
Haematologica 2010 Feb;95(2):206-13. Epub 2009 Sep 22 doi: 10.3324/haematol.2009.011783. PMID: 19773262Free PMC Article
Clinico-haematological profile of pure red cell aplasia in children.
Marwaha RK, Bansal D, Trehan A, Marwaha N, Varma N
J Trop Pediatr 2002 Apr;48(2):113-6. doi: 10.1093/tropej/48.2.113. PMID: 12022425

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      OMIM records containing genes associated with phenotypes registered in MedGen
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