RUNX1, RUNX family transcription factor 1, 861

N. diseases: 412; N. variants: 75
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE The MM-VCEP began optimizing ACMG/AMP rules for RUNX1 because many germline variants have been described in patients with familial platelet disorder with a predisposition to acute myeloid leukemia, characterized by thrombocytopenia, platelet functional/ultrastructural defects, and a predisposition to hematologic malignancies. 31648317 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE Regardless of age of presentation and severity of symptoms related to thrombocytopenia and/or platelet dysfunction, a subset of patients with IT are at increased risk of developing myeloid neoplasms during their life time, particularly those with germline autosomal dominant mutations in RUNX1, ANKRD26, and ETV6. 31069978 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 Biomarker phenotype BEFREE Patients with RUNX1 haplodeficiency have thrombocytopenia, platelet dysfunction, and deficiencies of α-granules and dense granules. 29632235 2018
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE Mean platelet volume was measured in thrombocytopenia with different genetic aetiologies, bilallelic BSS (bBSS) (n = 1), monoallelic BSS (mBSS) (n = 2), MYH9-related disorders (MYH9-RD) (n = 11), GFI1B-related thrombocytopenia (RT) (n = 15), FLI1-RT (n = 2), TUBB1-RT (n = 3), ITGA2B/ITGB3-RT (n = 1), RUNX1-RT (n = 2) and controls (n = 54). bBSS and 82% of MYH9-RD samples had MPD >4 μm which correlated with "IT with giant platelets." 29143464 2018
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 AlteredExpression phenotype BEFREE Haplodeficiency of RUNX1, a major hematopoietic transcription factor, is associated with thrombocytopenia and impaired platelet responses on activation. 28676520 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 Biomarker phenotype GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 Biomarker phenotype BEFREE RUNX1 haplodeficiency is associated with thrombocytopenia, platelet dysfunction and a predisposition to acute leukaemia. 28662545 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 Biomarker phenotype BEFREE Background Inherited RUNX1 haplodeficiency is associated with thrombocytopenia and platelet dysfunction. 28075530 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE In addition, SRSF2 VAF predicted for monocytosis (P=0.003), RUNX1 VAF with thrombocytopenia (P=0.01) and SF3B1 with ringed sideroblasts (P=0.001). 26514544 2016
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE Since the dominant thrombocytopenias due to mutations in RUNX1 and ANKRD26 are also characterized by normal platelet size and predispose to hematologic malignancies, we suggest that screening for ETV6, RUNX1 and ANKRD26 mutations should be performed in all subjects with autosomal dominant thrombocytopenia and normal platelet size. 27365488 2016
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE These findings clearly indicate that the RUNX1 mutation is robustly associated with thrombocytopenia in patients with FPD/AML, and transcription activator-like effector nuclease-mediated gene correction in iPSCs generated from patient-derived cells could provide a promising clinical application for treatment of the disease. 26021490 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE Altogether, RUNX1 dosage could explain the differential phenotype according to RUNX1 mutations, with a haploinsufficiency leading to thrombocytopenia alone in a majority of cases whereas a more complete gene deletion predisposes to leukemia. 25490895 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 Biomarker phenotype BEFREE Our findings suggest that alterations in FLI1 and RUNX1 may be common in patients with platelet dense granule secretion defects and mild thrombocytopenia. 24100448 2013
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE MYH10 was also detected in platelets of patients with the Paris-Trousseau syndrome, a thrombocytopenia related to the deletion of the transcription factor FLI1 that forms a complex with RUNX1 to regulate megakaryopoiesis, whereas MYH10 persistence was not observed in other inherited forms of thrombocytopenia. 22677128 2012
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE Recently, Braddock-Carey syndrome was demonstrated to be caused by chromosomal microdeletion in 21q22 including the RUNX1 gene, whose haploinsufficiency is responsible for thrombocytopenia phenotype. 22614953 2012
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE In a patient with a heterozygous mutation in RUNX1, we have described decreased platelet pleckstrin phosphorylation and protein kinase C- (PKC-, gene PRKCQ) associated with thrombocytopenia, impaired platelet aggregation, and dense granule secretion. 21252065 2011
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 Biomarker phenotype BEFREE In t-AML a 40 kb deleted MCR pointed to RUNX1 on 21q22, a gene coding for a transcription factor implicated in frequent rearrangements in leukemia and in familial thrombocytopenia. 21339820 2011
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE Her constitutional deletion was later found to span 13.2 Mb by chromosome microarray analysis, encompassing the RUNX1 gene that has been implicated in thrombocytopenia and predisposition to acute myelogenous leukemia (AML) when in the haploinsufficient state. 21626672 2011
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 Biomarker phenotype BEFREE Comparing the clinical features of our patients with the overlapping ones already reported two potential phenotypes related to 21q22 microdeletion including RUNX1 were highlighted: thrombocytopenia with +/- mild dysmorphic features and syndromic thrombocytopenia with growth and developmental delay. 20578134 2010
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 Biomarker phenotype BEFREE Haploinsufficiency of RUNX1 (also known as CBFA2/AML1) is associated with familial thrombocytopenia, platelet dysfunction, and predisposition to acute leukemia. 20181616 2010
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 Biomarker phenotype BEFREE Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency. 20876458 2010
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE RUNX1 mutations cause familial thrombocytopenia with a propensity for developing acute myelogenous leukemia; two functional consequences of these mutations include haploinsufficiency and a dominant negative effect. 19830829 2009
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype LHGDN We report on two novel germline RUNX1 mutations: (1) an out-of-frame 8 bp heterozygous deletion (c.442_449del) in an FPD/AML pedigree and (2) a de novo 3.5 Mb deletion in the 21q22.11.21q22.12 region encompassing the RUNX1 gene in a mentally retarded female patient with short stature and thrombocytopenia. 18478040 2008
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.500 GeneticVariation phenotype BEFREE We report on two novel germline RUNX1 mutations: (1) an out-of-frame 8 bp heterozygous deletion (c.442_449del) in an FPD/AML pedigree and (2) a de novo 3.5 Mb deletion in the 21q22.11.21q22.12 region encompassing the RUNX1 gene in a mentally retarded female patient with short stature and thrombocytopenia. 18478040 2008