Inherited thrombocytopenias classified by genetic mutations and associated findings
Syndrome . | Gene mutation . | Chromosomal location . | Associated findings . |
|---|---|---|---|
| MYH9-related thrombocytopenia | |||
| May-Hegglin anomaly | MYH9 | 22q11 | Neutrophil inclusions, sensorineural hearing loss, nephritis, cataracts (Table 6) |
| Fechtner syndrome | MYH9 | 22q11 | |
| Epstein syndrome | MYH9 | 22q11 | |
| Sebastian syndrome | MYH9 | 22q11 | |
| Mediterranean thrombocytopenia/Bernard-Soulier carrier | GP1BB, possibly others | 17pter-p12 | None |
| Bernard-Soulier syndrome | GP1BA, GP1BB | 17pter-p12 | None |
| Velocardiofacial/DiGeorge syndrome (CATCH22) | ?GP1BB | 22q11 | Cardiac, facial, parathyroid, and thymus anomalies, cognitive/learning impairment |
| Familial platelet disorder/acute myeloid leukemia | AML1 | 21q22.2 | Myelodysplasia, acute myeloid leukemia |
| Chromosome 10/THC2 | ?FLJ14813 | 10p12-11.2 | None |
| Paris-Trousseau thrombocytopenia/Jacobsen syndrome | ?FLI1 | 11q23 | Psychomotor retardation, facial anomalies (Jacobsen syndrome) |
| Gray platelet syndrome | Unknown | Unknown | None |
| Congenital amegakaryocytic thrombocytopenia | MPL | 1p34 | Marrow failure during 2nd decade |
| Thrombocytopenia and absent radii | Unknown | Unknown | Shortened/absent radii bilaterally |
| Thrombocytopenia and radial synostosus | HOXA11 | 7p15-p14.2 | Fused radius, incomplete range of motion |
| Wiskott-Aldrich syndrome | WAS | Xp11.23-p11.22 | Immunodeficiency, eczema, lymphoma |
| X-linked thrombocytopenia | WAS | Xp11.23-p11.22 | None |
| GATA-1 mutation | GATA1 | Xp11.23 | Anemia, dyserythropoiesis, thalassemia |
Syndrome . | Gene mutation . | Chromosomal location . | Associated findings . |
|---|---|---|---|
| MYH9-related thrombocytopenia | |||
| May-Hegglin anomaly | MYH9 | 22q11 | Neutrophil inclusions, sensorineural hearing loss, nephritis, cataracts (Table 6) |
| Fechtner syndrome | MYH9 | 22q11 | |
| Epstein syndrome | MYH9 | 22q11 | |
| Sebastian syndrome | MYH9 | 22q11 | |
| Mediterranean thrombocytopenia/Bernard-Soulier carrier | GP1BB, possibly others | 17pter-p12 | None |
| Bernard-Soulier syndrome | GP1BA, GP1BB | 17pter-p12 | None |
| Velocardiofacial/DiGeorge syndrome (CATCH22) | ?GP1BB | 22q11 | Cardiac, facial, parathyroid, and thymus anomalies, cognitive/learning impairment |
| Familial platelet disorder/acute myeloid leukemia | AML1 | 21q22.2 | Myelodysplasia, acute myeloid leukemia |
| Chromosome 10/THC2 | ?FLJ14813 | 10p12-11.2 | None |
| Paris-Trousseau thrombocytopenia/Jacobsen syndrome | ?FLI1 | 11q23 | Psychomotor retardation, facial anomalies (Jacobsen syndrome) |
| Gray platelet syndrome | Unknown | Unknown | None |
| Congenital amegakaryocytic thrombocytopenia | MPL | 1p34 | Marrow failure during 2nd decade |
| Thrombocytopenia and absent radii | Unknown | Unknown | Shortened/absent radii bilaterally |
| Thrombocytopenia and radial synostosus | HOXA11 | 7p15-p14.2 | Fused radius, incomplete range of motion |
| Wiskott-Aldrich syndrome | WAS | Xp11.23-p11.22 | Immunodeficiency, eczema, lymphoma |
| X-linked thrombocytopenia | WAS | Xp11.23-p11.22 | None |
| GATA-1 mutation | GATA1 | Xp11.23 | Anemia, dyserythropoiesis, thalassemia |