Table 1

Number of investigated participants and their main characteristics

DisorderAbbreviation in main textPhenotype MIM numberNo. of investigated participantsAge (y)FMPlatelet count × 109/L
MeanSDMeanSD
Bernard-Soulier syndromeBSS2312001273118.869588233.7
Biallelic BSSbBSS132616.8854134.6
Monoallelic BSSmBSS114321961538730.2
MYH9-related diseaseMYH9-RD6002081253319.359663525.9
MYH9-RD tail mutationtMYH9-RD1003519.948523926
MYH9-RD head mutationhMYH9-RD252615.211141918.6
ANKRD26-related thrombocytopeniaANKRD26-RT188000584020.727314328.4
ACTN1-related thrombocytopeniaACTN1-RT615193203621.51468731.7
Wiskott-Aldrich syndrome/ X-linked thrombocytopeniaWAS/XLT301000/ 31390092016.7096164.7
Congenital amegakaryocytic thrombocytopeniaCAMT604498542.723134.7
Gray platelet syndromeGPS13909053731.5055521.3
ITGA2B/ITGB3-related thrombocytopeniaITGA2B/B3-RT18780052815.95010644.9
TUBB1-related thrombocytopeniaTUBB1-RT61311252012.6238244.7
Familial platelet disorder and predisposition to acute myeloid leukemiaFPD-AML60139942013.52210335.9
CYCS-related thrombocytopeniaCYCS-RT612004332141210461.7
FLNA-related thrombocytopeniaFLNA-RT21620.5203412.7
Thrombocytopenia Paris-TrousseauTCPT18802520.20.0611499.9
GFI1B-related thrombocytopeniaGFI1B-RT1879002150119724.7
Congenital thrombocytopenia with radioulnar synostosisCTRUS6054321100130
von Willebrand disease platelet-typeVWDP17782013010130
Thrombocytopenia with absent radiiTAR274000161019
X-linked thrombocytopenia with thalassemiaXLTT314050180175
ITP873826.450374831.1
Controls553717292625752.3
  • F, female; M, male; MIM, Mammalian Inheritance in Man.