|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands.
|
17186470 |
2006 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
DBA has been associated with mutations in seven ribosomal protein (RP) genes, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7, in about 43% of patients.
|
20116044 |
2010 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a constitutional disease characterized by a specific maturation defect in cells of erythroid lineage.
|
10541318 |
1999 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diamond Blackfan anemia is a rare congenital hypoplastic anemia that usually presents early in infancy.
|
10698294 |
2000 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
RPS19 is the only gene yet to have been associated with DBA, but its relevance to erythroid differentiation is unclear.
|
15755903 |
2005 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
RPS19 was categorized into the set of low expressing genes in DBA patients.
|
16794503 |
2006 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ribosomal protein S19 (RPS19) is mutated in patients with Diamond-Blackfan anemia (DBA).
|
19454283 |
2009 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
|
19689926 |
2009 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome that exhibits an erythroid-specific phenotype.
|
29296843 |
2017 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy.
|
30524470 |
2018 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a bone marrow failure syndrome caused by mutations in ribosomal protein genes.
|
30784369 |
2019 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan Anemia (DBA) is a rare inherited form of pure red cell aplasia that usually manifests in infancy or early childhood, and is characterized by normochromic macrocytic anemia and bone marrow erythroblastopenia.
|
30933022 |
2019 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is an inherited pure red blood cell aplasia that often requires lifelong transfusional support.
|
8630424 |
1996 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a congenital pure red blood cell aplasia diagnosed in the first year of life.
|
9009445 |
1997 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a congenital pure red blood cell aplasia that often requires lifelong transfusional therapy.
|
9357971 |
1997 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a rare, congenital, hypoplastic anemia that usually presents in early infancy.
|
9443046 |
1997 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A genetic analysis revealed heterozygous mutation of RPS19; therefore, he was diagnosed as having DBA with CDH.
|
31574871 |
2019 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
A mutation in the gene encoding the small subunit-associated ribosomal protein RPS19, leading to RPS19 haploinsufficiency, is one of the ribosomal protein gene defects responsible for the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA).
|
29222326 |
2017 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An underlying genetic defect was identified in 26 of 43 patients (60.5%), the majority of which were found in the RPS19 gene (12 of 43, 27.9%) with 1 patient carrying a mutation in a novel DBA candidate gene, RPL9.
|
29114930 |
2018 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Analysis of these intermediates in CD34- cells from the bone marrow of patients with DBA harboring mutations in RPS19 revealed a pre-rRNA-processing defect similar to that observed in TF-1 cells where RPS19 expression was reduced.
|
16990592 |
2007 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Approximately 25% of Diamond Blackfan anemia cases are associated with mutations in the gene encoding ribosomal protein S19.
|
16239073 |
2006 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As RP mutations are yet to be identified in approximately 50% of DBA cases, it is likely that other yet to be identified genes involved in ribosomal biogenesis or other pathways may be responsible for DBA phenotype.
|
20655265 |
2010 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SBS), hallmarked by clinically-recognizable phenotypes (e.g., radial ray anomalies in FA) and significantly increased risks for MDS and/or acute myeloid leukemia (AML) in the setting of bone marrow failure.
|
27248996 |
2016 |