Details of Disease

General Information of Disease (ID: DIS4FKKF)

Disease Name Diamond-Blackfan anemia 6
Synonyms
DBA6; Aase-Smith syndrome 2; RPL5 Diamond-Blackfan anemia; Diamond-Blackfan Anaemia type 6; Diamond-Blackfan anaemia caused by mutation in RPL5; Diamond-Blackfan Anemia type 6; RPL5 Diamond-Blackfan anaemia; Diamond-Blackfan anemia caused by mutation in RPL5; Diamond-Blackfan anemia 6
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DIS4FKKF: Diamond-Blackfan anemia 6
Disease Identifiers
MONDO ID
MONDO_0012937
MESH ID
C538442
UMLS CUI
C2931850
OMIM ID
612561
MedGen ID
419918

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RPL15 TTQRVC9 Strong GermlineCausalMutation [1]
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This Disease Is Related to 14 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADA2 OTGCV24S Strong GermlineCausalMutation [2]
GATA1 OTX1R7O1 Strong GermlineCausalMutation [3]
RPL18 OTJCH62J Strong GermlineCausalMutation [4]
RPL26 OTFNRC27 Strong GermlineCausalMutation [5]
RPL35 OTFZX52Q Strong GermlineCausalMutation [4]
RPS10 OTE3VSAH Strong Biomarker [6]
RPS24 OTSNKIL5 Strong Biomarker [7]
RPL27 OTWEOUTX Definitive Genetic Variation [8]
RPL5 OTM8EBRI Definitive Autosomal dominant [9]
RPS15A OT0BUA12 Definitive GermlineCausalMutation [10]
RPS27 OTFXKY7P Definitive Genetic Variation [8]
RPS28 OT12IES1 Definitive GermlineCausalMutation [11]
RPS29 OTCC1872 Definitive GermlineCausalMutation [12]
TSR2 OTSIWJQJ Definitive GermlineCausalMutation [11]
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⏷ Show the Full List of 14 DOT(s)

References

1 Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet. 2013 Nov;132(11):1265-74. doi: 10.1007/s00439-013-1326-z. Epub 2013 Jun 30.
2 The Genetic Landscape of Diamond-Blackfan Anemia. Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29.
3 Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med. 2014 Jul;20(7):748-53. doi: 10.1038/nm.3557. Epub 2014 Jun 22.
4 Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. J Med Genet. 2017 Jun;54(6):417-425. doi: 10.1136/jmedgenet-2016-104346. Epub 2017 Mar 9.
5 Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Hum Mutat. 2012 Jul;33(7):1037-44. doi: 10.1002/humu.22081. Epub 2012 Apr 16.
6 A high-throughput approach for measuring temporal changes in the interactome.Nat Methods. 2012 Sep;9(9):907-9. doi: 10.1038/nmeth.2131. Epub 2012 Aug 5.
7 A census of human soluble protein complexes.Cell. 2012 Aug 31;150(5):1068-81. doi: 10.1016/j.cell.2012.08.011.
8 Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. Br J Haematol. 2015 Mar;168(6):854-64. doi: 10.1111/bjh.13229. Epub 2014 Nov 25.
9 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
10 Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. Haematologica. 2017 Mar;102(3):e93-e96. doi: 10.3324/haematol.2016.153932. Epub 2016 Dec 1.
11 Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A. 2014 Sep;164A(9):2240-9. doi: 10.1002/ajmg.a.36633. Epub 2014 Jun 18.
12 Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Blood. 2014 Jul 3;124(1):24-32. doi: 10.1182/blood-2013-11-540278. Epub 2014 May 14.