THPO, thrombopoietin, 7066

N. diseases: 185; N. variants: 9
Disease: Familial thrombocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 GeneticVariation disease BEFREE We report, for the first time, a non-syndromic infant with a reversible myeloproliferative disease that harbors a germline hereditary thrombopoietin (THPO) gene mutation, a condition that is known to induce familial thrombocytosis at increasing age. 25728710 2015
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 GeneticVariation disease BEFREE Here we report two families with HT resulting from a THPO c.13+1 G>C mutation in the splice donor of intron 3. 22453305 2012
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 GeneticVariation disease BEFREE Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 19553636 2009
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 GeneticVariation disease BEFREE Here we characterized a THPO mutation in a hereditary thrombocythemia pedigree with 11 affected family members. 18367486 2008
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 Biomarker disease BEFREE In conclusion, lack of a molecular lesion within either TPO or cMpl genes indicate that HT may be caused by factors other than TPO-cMpl axis in this family. 16995886 2006
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 Biomarker disease BEFREE These data suggest that altered regulation of the TPO gene might be involved in the pathogenesis of FT. 15282677 2004
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 GeneticVariation disease BEFREE Interestingly, decreased c-MPL and elevated PRV-1 also were observed in patients with hereditary thrombocythemia (HT) who carry a mutation in the thrombopoietin (TPO) gene. 12730106 2003
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 GeneticVariation disease BEFREE Mutation analysis at the thrombopoietin gene (THPO) of the affected family members failed to detect the intron 3 G-->C splice mutation that had been described as causing FT. 11260062 2001
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 GeneticVariation disease BEFREE Recent studies have shown that four kindreds with hereditary thrombocythaemia (HT) have point mutations in the 5'-untranslated region (UTR) of the TPO gene which lead to increased TPO translation. 11860444 2001
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 Biomarker disease BEFREE Genetic linkage analysis with TPO microsatellite markers excluded TPO as the disease gene in the Spanish HT family, and sequencing of the TPO gene revealed no mutations in the propositus of the US family. 10930985 2000
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 Biomarker disease BEFREE The contribution of increased TPO protein synthesis by a translational mechanism was recently appreciated as the cause for hereditary thrombocythemia and will have to be elucidated in other conditions of thrombocytosis in association with increased TPO levels. 10786650 2000
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 GeneticVariation disease BEFREE Hereditary thrombocythemia (sometimes called familial essential thrombocythemia or familial thrombocytosis) can be caused by mutations in upstream AUG codons in the 5'-UTR of the TPO mRNA that normally function as translational repressors. 10828006 2000
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 Biomarker disease BEFREE This is the third family in which HT has been caused by the loss of translational inhibition of TPO mRNA. 10583217 1999
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 AlteredExpression disease BEFREE Recently a mutation has been described in the TPO gene in familial thrombocythaemia that results in elevated TPO levels. 9753068 1998
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 Biomarker disease BEFREE In a Dutch family with eleven affected individuals, the thrombopoietin protein (TPO) concentrations in serum were consistently elevated in individuals with HT. 9425899 1998
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 Biomarker disease BEFREE We conclude that genes for c-mpl and TPO are not responsible for thrombocythaemia in our FT family. 9488631 1998
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.400 GermlineCausalMutation disease ORPHANET