RGDs registry under the 'Blood disorders'
| Disorder Name (Total=34) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Immune thrombocytopenia Autosomal dominant |
•Autoimmune thrombocytopenia •Immune thrombocytopenic purpura |
Hematologic diseases (Blood disorders) |
FCGR2B Fc gamma receptor IIb FCGR2C Fc gamma receptor IIc (gene/pseudogene) |
Reports Updated as of May 24, 2023 |
PubMed |
| Hereditary factor VIII deficiency disease X-linked dominant |
•Hemophilia A |
Bleeding disorders (Coagulopathy) |
F8 coagulation factor VIII F9 coagulation factor IX |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Hemophilia B X-linked dominant |
Bleeding disorders (Coagulopathy) |
F9 coagulation factor IX |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Hb SS disease Autosomal recessive |
•Sickle cell anemia |
Hemoglobinopathy |
HBB hemoglobin subunit beta |
Reports Updated as of Nov 02, 2023 |
PubMed |
| Primary familial polycythemia due to EPO receptor mutation Autosomal dominant |
•Erythrocytosis •Primary familial polycythemia •Polycythemia •Primary congenital erythrocytosis |
Polycythemia |
EPOR erythropoietin receptor SH2B3 SH2B adaptor protein 3 |
Reports Updated as of Nov 02, 2023 |
PubMed |
| beta Thalassemia Autosomal dominant, Autosomal recessive |
•Erythroblastic anemia •Beta-thalassemia •Mediterranean anemia |
Hemoglobinopathy |
HBB hemoglobin subunit beta |
Reports Updated as of Nov 10, 2023 |
PubMed |
| alpha Thalassemia Autosomal recessive |
•Alpha-thalassemia •A-Thalassemia |
Hemoglobinopathy |
ATRX ATRX chromatin remodeler HBA2 hemoglobin subunit alpha 2 HBA1 hemoglobin subunit alpha 1 |
Reports Updated as of Nov 10, 2023 |
PubMed |
| Hemolytic uremic syndrome, atypical Autosomal dominant, Autosomal recessive |
•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 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Plasminogen deficiency Autosomal recessive |
•Hypoplasminogenemia |
Bleeding disorders (Coagulopathy) |
PLG plasminogen |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Congenital afibrinogenemia Autosomal recessive |
•Congenital fibrinogen deficiency |
Bleeding disorders (Coagulopathy) |
FGG fibrinogen gamma chain FGB fibrinogen beta chain FGA fibrinogen alpha chain |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Factor VII deficiency Autosomal dominant, Autosomal recessive |
•Hypoproconvertinemia •Congenital proconvertin deficiency •Factor 7 deficiency |
Bleeding disorders (Coagulopathy) |
F7 coagulation factor VII |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Congenital plasminogen activator inhibitor type 1 deficiency Autosomal dominant, Autosomal recessive |
•Plasminogen activator inhibitor-1 deficiency •PAI-1 deficiency |
Bleeding disorders (Coagulopathy) |
SERPINE1 serpin family E member 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Alpha-2-plasmin inhibitor deficiency Autosomal recessive |
•Congenital alpha2-antiplasmin deficiency •Alpha-2 Antiplasmin deficiency |
Bleeding disorders (Coagulopathy) |
SERPINF2 serpin family F member 2 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Vitamin K-dependent clotting factors, combined deficiency of, type 1 Autosomal recessive |
•Vitamin K-dependent coagulation defect •Congenital deficiency of vitamin K dependent clotting factors |
Bleeding disorders (Coagulopathy) |
GGCX gamma-glutamyl carboxylase |
Reports Updated as of Nov 30, 2023 |
PubMed |
| von Willebrand disease Autosomal dominant, Autosomal recessive |
•von Willebrand disease type 1 •Hereditary von Willebrand disease |
Bleeding disorders (Coagulopathy) |
VWF von Willebrand factor |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Diamond-Blackfan anemia Autosomal dominant |
•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 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Essential thrombocythemia Autosomal dominant, X-linked dominant |
•Idiopathic thrombocythemia •THROMBOCYTOSIS 1 |
Platelet diseases |
MPL MPL proto-oncogene, thrombopoietin receptor |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Glanzmann thrombasthenia Autosomal recessive |
•Thrombasthenia |
Bleeding disorders (Coagulopathy) |
ITGA2B integrin subunit alpha 2b ITGB3 integrin subunit beta 3 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Gray platelet syndrome Autosomal recessive |
•Alpha storage pool deficiency |
Bleeding disorders (Coagulopathy) |
NBEAL2 neurobeachin like 2 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Hereditary hemorrhagic telangiectasia Autosomal dominant |
•Osler Weber Rendu syndrome |
Bleeding disorders (Coagulopathy) |
ENG endoglin ACVRL1 activin A receptor like type 1 |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Congenital amegakaryocytic thrombocytopenia Autosomal recessive |
Platelet diseases |
MPL MPL proto-oncogene, thrombopoietin receptor |
Reports Updated as of Dec 29, 2023 |
PubMed | |
| Overhydrated hereditary stomatocytosis Autosomal dominant |
•Potassium sodium disorder of erythrocyte •Stomatocytosis I |
Anemia |
RHAG Rh associated glycoprotein |
Reports Updated as of Jan 04, 2024 |
PubMed |
| MYH9-related disorder Autosomal dominant |
•May-Hegglin anomaly •Sebastian platelet syndrome •Sebastian syndrome •MYH9-related syndromic thrombocytopenia |
Platelet diseases |
MYH9 myosin heavy chain 9 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| 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 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Hereditary elliptocytosis Autosomal dominant, Autosomal recessive |
Anemia |
EPB41 erythrocyte membrane protein band 4.1 |
Reports Updated as of Feb 20, 2024 |
PubMed | |
| Autoimmune hemolytic anemia Autosomal recessive |
•AHA •AIHA |
Anemia |
SOCS1 suppressor of cytokine signaling 1 TLR8 toll like receptor 8 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Paroxysmal nocturnal hemoglobinuria |
•Marchiafava-Micheli disease •Acquired paroxysmal nocturnal hemoglobinuria |
Anemia |
PIGA phosphatidylinositol glycan anchor biosynthesis class A LOC110806306 telomerase RNA component (TERC) promoter |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Hereditary spherocytosis Autosomal dominant, Autosomal recessive |
•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 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Hypereosinophilic syndrome, idiopathic Somatic mutation |
•Idiopathic hypereosinophilic syndrome |
Eosinophil disorders |
PDGFRA platelet derived growth factor receptor alpha |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 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 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 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 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| 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 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Hereditary antithrombin deficiency Autosomal dominant, Autosomal recessive |
•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 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Thrombophilia due to thrombin defect Autosomal dominant |
•Prothrombin thrombophilia •prothrombin-related thrombophilia •thrombophilia 1 due to thrombin defect •venous thromboembolism, susceptibility to •venous thrombosis, protection against •Factor V R2 Mutation Thrombophilia •Prothrombin-Related Thrombophilia •Prothrombin-Related Thrombophilia (Factor II) •Thrombophilia due to factor 2 defect •Thrombosis susceptibility |
Blood coagulation disorders |
F2 coagulation factor II, thrombin F5 coagulation factor V |
Reports Updated as of Feb 26, 2025 |
PubMed |