RGDs registry under the 'Blood disorders'
| S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
| 1 | Immune thrombocytopenia |
•Autoimmune thrombocytopenia •Immune thrombocytopenic purpura |
Hematologic diseases (Blood disorders) |
FCGR2B Fc gamma receptor IIb FCGR2C Fc gamma receptor IIc (gene/pseudogene) |
PubMed | Reports |
| 2 | Hereditary factor VIII deficiency disease |
•Hemophilia A |
Bleeding disorders (Coagulopathy) |
F8 coagulation factor VIII F9 coagulation factor IX |
PubMed | Reports |
| 3 | Hemophilia B | Bleeding disorders (Coagulopathy) |
F9 coagulation factor IX |
PubMed | Reports | |
| 4 | Hb SS disease |
•Sickle cell anemia |
Hemoglobinopathy |
HBB hemoglobin subunit beta |
PubMed | Reports |
| 5 | Primary familial polycythemia due to EPO receptor mutation |
•Erythrocytosis •Primary familial polycythemia •Polycythemia •Primary congenital erythrocytosis |
Polycythemia |
EPOR erythropoietin receptor SH2B3 SH2B adaptor protein 3 |
PubMed | Reports |
| 6 | beta Thalassemia |
•Erythroblastic anemia •Beta-thalassemia •Mediterranean anemia |
Hemoglobinopathy |
HBB hemoglobin subunit beta |
PubMed | Reports |
| 7 | alpha Thalassemia |
•Alpha-thalassemia •A-Thalassemia |
Hemoglobinopathy |
ATRX ATRX chromatin remodeler HBA2 hemoglobin subunit alpha 2 HBA1 hemoglobin subunit alpha 1 |
PubMed | Reports |
| 8 | Hemolytic uremic syndrome, atypical |
•aHUS •Atypical hemolytic uremic syndrome •Atypical hemolytic-uremic syndrome |
Blood coagulation disorders |
CFH complement factor H DGKE diacylglycerol kinase epsilon C3AR1 complement C3a receptor 1 |
PubMed | Reports |
| 9 | Plasminogen deficiency |
•Hypoplasminogenemia |
Bleeding disorders (Coagulopathy) |
PLG plasminogen |
PubMed | Reports |
| 10 | Congenital afibrinogenemia |
•Congenital fibrinogen deficiency |
Bleeding disorders (Coagulopathy) |
FGG fibrinogen gamma chain FGB fibrinogen beta chain FGA fibrinogen alpha chain |
PubMed | Reports |
| 11 | Factor VII deficiency |
•Hypoproconvertinemia •Congenital proconvertin deficiency •Factor 7 deficiency |
Bleeding disorders (Coagulopathy) |
F7 coagulation factor VII |
PubMed | Reports |
| 12 | Congenital plasminogen activator inhibitor type 1 deficiency |
•Plasminogen activator inhibitor-1 deficiency •PAI-1 deficiency |
Bleeding disorders (Coagulopathy) |
SERPINE1 serpin family E member 1 |
PubMed | Reports |
| 13 | Alpha-2-plasmin inhibitor deficiency |
•Congenital alpha2-antiplasmin deficiency •Alpha-2 Antiplasmin deficiency |
Bleeding disorders (Coagulopathy) |
SERPINF2 serpin family F member 2 |
PubMed | Reports |
| 14 | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
•Vitamin K-dependent coagulation defect •Congenital deficiency of vitamin K dependent clotting factors |
Bleeding disorders (Coagulopathy) |
GGCX gamma-glutamyl carboxylase |
PubMed | Reports |
| 15 | von Willebrand disease |
•von Willebrand disease type 1 •Hereditary von Willebrand disease |
Bleeding disorders (Coagulopathy) |
VWF von Willebrand factor |
PubMed | Reports |
| 16 | Diamond-Blackfan anemia |
•Congenital hypoplastic anemia •Congenital pure red cell aplasia •Anemia congenital erythroid hypoplastic •Aase syndrome •Aregenerative anemia chronic congenital •Blackfan Diamond syndrome •Congenital hypoplastic anemia •Erythrogenesis imperfecta •Red cell aplasia, pure hereditary |
Anemia |
RPL11 ribosomal protein L11 RPS26 ribosomal protein S26 RPS7 ribosomal protein S7 RPL5 ribosomal protein L5 RPS10 ribosomal protein S10 RPS19 ribosomal protein S19 RPS24 ribosomal protein S24 RPS17 ribosomal protein S17 RPL35A ribosomal protein L35a RPL26 ribosomal protein L26 RPL15 ribosomal protein L15 RPS29 ribosomal protein S29 TSR2 TSR2 ribosome maturation factor RPS28 ribosomal protein S28 RPS27 ribosomal protein S27 RPL27 ribosomal protein L27 EPO erythropoietin TP53 tumor protein p53 RPS15A ribosomal protein S15a RPL18 ribosomal protein L18 RPL35 ribosomal protein L35 GATA1 GATA binding protein 1 RPS20 ribosomal protein S20 HEATR3 HEAT repeat containing 3 |
PubMed | Reports |
| 17 | Essential thrombocythemia |
•Idiopathic thrombocythemia •THROMBOCYTOSIS 1 |
Platelet diseases |
MPL MPL proto-oncogene, thrombopoietin receptor |
PubMed | Reports |
| 18 | Glanzmann thrombasthenia |
•Thrombasthenia |
Bleeding disorders (Coagulopathy) |
ITGA2B integrin subunit alpha 2b ITGB3 integrin subunit beta 3 |
PubMed | Reports |
| 19 | Gray platelet syndrome |
•Alpha storage pool deficiency |
Bleeding disorders (Coagulopathy) |
NBEAL2 neurobeachin like 2 |
PubMed | Reports |
| 20 | Hereditary hemorrhagic telangiectasia |
•Osler Weber Rendu syndrome |
Bleeding disorders (Coagulopathy) |
ENG endoglin ACVRL1 activin A receptor like type 1 |
PubMed | Reports |
| 21 | Congenital amegakaryocytic thrombocytopenia | Platelet diseases |
MPL MPL proto-oncogene, thrombopoietin receptor |
PubMed | Reports | |
| 22 | Overhydrated hereditary stomatocytosis |
•Potassium sodium disorder of erythrocyte •Stomatocytosis I |
Anemia |
RHAG Rh associated glycoprotein |
PubMed | Reports |
| 23 | MYH9-related disorder |
•May-Hegglin anomaly •Sebastian platelet syndrome •Sebastian syndrome •MYH9-related syndromic thrombocytopenia |
Platelet diseases |
MYH9 myosin heavy chain 9 |
PubMed | Reports |
| 24 | Acute promyelocytic leukemia |
•[PML/RARalpha] and variants • Acute myeloblastic leukemia 3 • Acute myeloid leukemia with t(15,17)(q22,q12) •APML •AML M3 |
Myeloid leukemia |
RARA retinoic acid receptor alpha NUMA1 nuclear mitotic apparatus protein 1 |
PubMed | Reports |
| 25 | Hereditary elliptocytosis | Anemia |
EPB41 erythrocyte membrane protein band 4.1 |
PubMed | Reports | |
| 26 | Autoimmune hemolytic anemia |
•AHA •AIHA |
Anemia |
SOCS1 suppressor of cytokine signaling 1 TLR8 toll like receptor 8 |
PubMed | Reports |
| 27 | Paroxysmal nocturnal hemoglobinuria |
•Marchiafava-Micheli disease •Acquired paroxysmal nocturnal hemoglobinuria |
Anemia |
PIGA phosphatidylinositol glycan anchor biosynthesis class A LOC110806306 telomerase RNA component (TERC) promoter |
PubMed | Reports |
| 28 | Hereditary spherocytosis |
•Minkowski-Chauffard disease |
Anemia |
ANK1 ankyrin 1 SPTB spectrin beta, erythrocytic SPTA1 spectrin alpha, erythrocytic 1 EPB42 erythrocyte membrane protein band 4.2 SLC4A1 solute carrier family 4 member 1 (Diego blood group) GPI glucose-6-phosphate isomerase |
PubMed | Reports |
| 29 | Hypereosinophilic syndrome, idiopathic |
•Idiopathic hypereosinophilic syndrome |
Eosinophil disorders |
PDGFRA platelet derived growth factor receptor alpha |
PubMed | Reports |
| 30 | T-cell large granular lymphocyte leukemia |
•Proliferation of large granular lymphocytes •T-LGL •T-cell LGL leukemia |
Lymphoid hemopathy |
STAT3 signal transducer and activator of transcription 3 |
PubMed | Reports |
| 31 | Myelodysplastic syndrome |
•Myelodysplastic syndrome, somatic •Myelodysplastic syndromes |
Myeloid hemopathy |
MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) MT-CO1 mitochondrially encoded cytochrome c oxidase I GATA2 GATA binding protein 2 NRAS NRAS proto-oncogene, GTPase SF3B1 splicing factor 3b subunit 1 FLT3 fms related receptor tyrosine kinase 3 DNMT3A DNA methyltransferase 3 alpha IDH1 isocitrate dehydrogenase (NADP(+)) 1 IDH2 isocitrate dehydrogenase (NADP(+)) 2 TET2 tet methylcytosine dioxygenase 2 DDX41 DEAD-box helicase 41 ASXL1 ASXL transcriptional regulator 1 SAMD9 sterile alpha motif domain containing 9 |
PubMed | Reports |
| 32 | Myeloproliferative disorder |
•Myeloproliferative neoplasm •MPD •MPN |
Myeloid hemopathy |
FGFR3 fibroblast growth factor receptor 3 DNMT3A DNA methyltransferase 3 alpha PDGFRB platelet derived growth factor receptor beta |
PubMed | Reports |
| 33 | Hereditary antithrombin deficiency |
•Antithrombin III deficiency •Hereditary thrombophilia due to congenital antithrombin deficiency •Antithrombin deficiency •Antithrombin Iii deficiency •Reduced antithrombin III activity •Thrombophilia due to antithrombin III deficiency •Deficiency of antithrombin III |
Blood coagulation disorders |
SERPINC1 serpin family C member 1 |
PubMed | Reports |
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