Disorder "Blood Platelet Disease"
Found 4 records
Disorder information
Disorder name:
Blood Platelet Disease
Disoder ID:
Definition:
Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML.
Modifier statisitcs
Record:
4
Gene:
3
Variant:
4
Reference:
1
Effect type:
Expressivity(4)
Modifier effect:
Altered gene activity(4)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| IDH2 | IDH2:c.263G>T(p.Arg140Leu) | Expressivity | Altered gene activity | From review article | In AML, missense mutations at conserved residues (R132 in IDH1; R140 and R172 in IDH2) result in a change in substrate specificity causing mutant IDH1/2 to instead use α-KG as a substrate and catalyze its conversion into 2-HG in a reaction that consumes NADPH leading to the accumulation of 2-HG in the cellmore | more |
| IDH2:p.Arg172 | Expressivity | Altered gene activity | From review article | In AML, missense mutations at conserved residues (R132 in IDH1; R140 and R172 in IDH2) result in a change in substrate specificity causing mutant IDH1/2 to instead use α-KG as a substrate and catalyze its conversion into 2-HG in a reaction that consumes NADPH leading to the accumulation of 2-HG in the cellmore | more | |
| IDH1 | IDH1:c.394C>G(p.Arg132Gly) | Expressivity | Altered gene activity | From review article | In AML, missense mutations at conserved residues (R132 in IDH1; R140 and R172 in IDH2) result in a change in substrate specificity causing mutant IDH1/2 to instead use α-KG as a substrate and catalyze its conversion into 2-HG in a reaction that consumes NADPH leading to the accumulation of 2-HG in the cellmore | more |
| DNMT3A | DNMT3A:c.2645G>T(p.Arg882Leu) | Expressivity | Altered gene activity | From review article | The reduced methyltransferase activity is in part attributable to a reduction in tetramerization of the wild-type protein conferred by the R882H mutant.more | more |
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