Details of Disease

General Information of Disease (ID: DISP4NUV)

Disease Name Diamond-Blackfan anemia 1
Synonyms
aregenerative Anemia, chronic congenital; Red cell aplasia, Pure, hereditary; erythrogenesis imperfecta; anemia, congenital hypoplastic, of Blackfan and Diamond; Aase syndrome; Aase-Smith syndrome 2; Blackfan-Diamond syndrome; DBA1; anemia, congenital erythroid hypoplastic; DBA; Diamond-Blackfan anemia caused by mutation in RPS19; Diamond-Blackfan anaemia caused by mutation in RPS19; RPS19 Diamond-Blackfan anemia; Diamond-Blackfan Anaemia type 1; Diamond-Blackfan Anemia type 1; RPS19 Diamond-Blackfan anaemia; Diamond-Blackfan anemia 1
Definition Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.
Disease Hierarchy
DISI2SNW: Diamond-Blackfan anemia
DISP4NUV: Diamond-Blackfan anemia 1
Disease Identifiers
MONDO ID
MONDO_0007110
MESH ID
C567302
UMLS CUI
C2676137
OMIM ID
105650
MedGen ID
390966

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
EPO TTQG4NR Limited Biomarker [1]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADA2 OTGCV24S Strong Biomarker [2]
GABARAPL1 OT4U7SBG Strong Biomarker [3]
GABARAPL2 OTS7YVHF Strong Biomarker [3]
RPL11 OT3VZ6OE Strong Biomarker [4]
RPS7 OTIK25WI Strong Genetic Variation [5]
RPS19 OTBKGP48 Definitive Autosomal dominant [6]
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⏷ Show the Full List of 6 DOT(s)

References

1 Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. Cell. 2017 Mar 9;168(6):1053-1064.e15. doi: 10.1016/j.cell.2017.02.026.
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 MicroRNA expression profiling of dibenzalacetone (DBA) treated intracellular amastigotes of Leishmania donovani.Exp Parasitol. 2018 Oct;193:5-19. doi: 10.1016/j.exppara.2018.07.018. Epub 2018 Aug 17.
4 Assessment of hematopoietic failure due to Rpl11 deficiency in a zebrafish model of Diamond-Blackfan anemia by deep sequencing.BMC Genomics. 2013 Dec 17;14:896. doi: 10.1186/1471-2164-14-896.
5 Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28.
6 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.