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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.
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).
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.

Professional guidelines

PubMed

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
Janov AJ, Leong T, Nathan DG, Guinan EC
Medicine (Baltimore) 1996 Mar;75(2):77-8. doi: 10.1097/00005792-199603000-00004. PMID: 8606629
Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

Recent clinical studies

Etiology

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
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
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
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
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

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
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
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
McLennan AC, Chitty LS, Rissik J, Maxwell DJ
Prenat Diagn 1996 Apr;16(4):349-53. doi: 10.1002/(SICI)1097-0223(199604)16:4<349::AID-PD854>3.0.CO;2-#. PMID: 8734811
Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

Therapy

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
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
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
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
Janov AJ, Leong T, Nathan DG, Guinan EC
Medicine (Baltimore) 1996 Mar;75(2):77-8. doi: 10.1097/00005792-199603000-00004. PMID: 8606629

Prognosis

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
Maisonneuve E, Ben M'Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N'Dour C, Mailloux A, Cortey A, Jouannic JM
Fetal Diagn Ther 2020;47(2):156-164. Epub 2019 Sep 10 doi: 10.1159/000501554. PMID: 31505487
Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM
Blood 2012 Apr 19;119(16):3815-9. Epub 2012 Feb 23 doi: 10.1182/blood-2011-08-375972. PMID: 22362038Free PMC Article
Janov AJ, Leong T, Nathan DG, Guinan EC
Medicine (Baltimore) 1996 Mar;75(2):77-8. doi: 10.1097/00005792-199603000-00004. PMID: 8606629
Glader BE
Hematol Oncol Clin North Am 1987 Sep;1(3):431-47. PMID: 3129394

Clinical prediction guides

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
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
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
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
Buchanan GR, Alter BP, Holtkamp CA, Walsh EG
Pediatrics 1981 Aug;68(2):238-41. PMID: 7267232

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