| Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
| Athrombia, Essential |
|
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion |
OMIM:209050 |
| Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
| Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:615888 |
| Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... |
OMIM:187950 |
| Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... |
OMIM:173590 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
| Glanzmann Thrombasthenia 2 |
|
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired collagen-in... |
OMIM:619267 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Platelet aniso... |
OMIM:619271 |
| Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... |
OMIM:613501 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... |
ORPHA:2585 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Prolonged bleeding time, Giant platelets |
OMIM:608404 |
| Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding time, Impaired platelet aggregation,... |
OMIM:273800 |
| Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... |
OMIM:614372 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... |
OMIM:616022 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
| Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... |
OMIM:615285 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... |
OMIM:613502 |
| Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Macrothrombocytopenia |
OMIM:600208 |
| Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
| Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... |
OMIM:300310 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... |
OMIM:614493 |
| Sebastian syndrome |
|
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... |
OMIM:605249 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmune thr... |
OMIM:608184 |
| Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Recurrent viral infections, Impaired platelet aggregation |
OMIM:617443 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... |
OMIM:613493 |
| +173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Impaired platelet ag... |
OMIM:173470 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Immunodeficiency 46 |
|
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... |
OMIM:616740 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... |
OMIM:606843 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... |
OMIM:619374 |
| Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... |
OMIM:608957 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Prolonged bleeding time, Abnormal alpha granule content, Thromboc... |
OMIM:601399 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... |
OMIM:613101 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:612692 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurrent infections, R... |
OMIM:616576 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, B lymphocytopenia, Persistent EBV viremia, Splenomegaly |
OMIM:619437 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of anti-neutropil... |
ORPHA:572 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
| Immunodeficiency 51 |
|
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... |
OMIM:139090 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... |
OMIM:607624 |
| Malaria |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia |
ORPHA:673 |
| Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... |
OMIM:616873 |
| Omenn Syndrome |
|
Recurrent bacterial infections, Hypoproteinemia, B lymphocytopenia, Recurrent fungal infections, ... |
OMIM:603554 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Decreased cir... |
OMIM:601495 |
| Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Thrombocytosis, Leukocytosis, Chronic infection, Neutropenia, Normocytic anemia, Megaloblastic er... |
ORPHA:75564 |
| Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:277480 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Leukopenia |
OMIM:615715 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Impaired ristocetin-induced platelet ... |
OMIM:231200 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... |
OMIM:155100 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... |
OMIM:603585 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Bone marrow hypocellularity, Anemia, Acute myeloi... |
OMIM:619041 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time |
OMIM:614158 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume |
OMIM:252270 |
| Fanconi Anemia, Complementation Group V |
|
Neutropenia, Anemia, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Thrombocytopenia |
OMIM:617243 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, Anemia, Recurr... |
OMIM:613011 |
| Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent sinopulmonary infections, ... |
OMIM:243700 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time |
OMIM:614201 |
| Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:616435 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating... |
OMIM:308240 |
| Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... |
OMIM:193670 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent protozoan infections, ... |
OMIM:209920 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Hypouricemia, Recurrent opportunistic infections, Impaired T cell... |
OMIM:613179 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
OMIM:603552 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Eosinophilia, Leukocytosis, Anemia |
ORPHA:517 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... |
OMIM:240500 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Decreased proportion of naive T cells, Recurrent opportun... |
ORPHA:276 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... |
OMIM:613496 |
| Thymic Aplasia |
|
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Decrea... |
ORPHA:83471 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... |
ORPHA:331206 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia, Prolonged bleeding time |
OMIM:188025 |
| Hermansky-Pudlak Syndrome 7 |
|
Impaired platelet aggregation |
OMIM:614076 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia |
OMIM:612783 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
| Slc35A1-Cdg |
|
Neutropenia, Abnormal platelet granules, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
ORPHA:238459 |
| Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Chédiak-Higashi Syndrome |
|
Neutropenia, Abnormal platelet function, Recurrent infections, Splenomegaly, Increased circulatin... |
ORPHA:167 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
| Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... |
OMIM:617475 |
| Fechtner syndrome |
|
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... |
OMIM:153640 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell activity, Anemia, Splenomegaly, Increased circulating ferritin concen... |
OMIM:616050 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Prolonged bleeding time |
OMIM:185050 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Chronic active Epstein-Barr virus infection, Neutropenia, Anemia, Splenomegaly,... |
ORPHA:158048 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
ORPHA:169090 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... |
ORPHA:319552 |
| Hermansky-Pudlak Syndrome 6 |
|
Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet aggregation |
OMIM:614075 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
| Immunodeficiency 33 |
|
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... |
OMIM:300636 |
| Glanzmann Thrombasthenia |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation |
ORPHA:849 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Bone marrow hypocellularity, Recurrent infections, Reticulocytopenia, Pancyt... |
ORPHA:88 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, Increased circulating antibody level, Recurrent infections |
OMIM:618048 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... |
OMIM:308230 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
| Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Infectious encephalitis, ... |
OMIM:267700 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Increased circulating IgE level, Transient neutropenia, Recu... |
OMIM:607676 |
| Isolated Agammaglobulinemia |
|
Sepsis, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anemia, Meningitis... |
ORPHA:229717 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Increased ci... |
ORPHA:158057 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Refractory Anemia With Excess Blasts |
|
Leukocytosis, Chronic infection, Abnormal mean corpuscular volume, Bone marrow hypocellularity, A... |
ORPHA:86839 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Chronic infection, Leukopenia, Bone marrow hypocellularity, Er... |
ORPHA:86841 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Chronic oral candidiasis, Recurrent infec... |
OMIM:150550 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Neutropenia, Reduced natural killer cell activity, Enlarged plate... |
OMIM:608233 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Factor V Deficiency |
|
Prolonged prothrombin time, Prolonged bleeding time |
OMIM:227400 |
| Von Willebrand Disease, Type 1 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:193400 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Leukocytosis, Sepsis, Anemia, Splenomegaly, Hepatosplenomegaly, E... |
OMIM:612840 |
| Folate Malabsorption, Hereditary |
|
Neutropenia, Leukopenia, Recurrent infections, Thrombocytopenia, Folate-responsive megaloblastic ... |
OMIM:229050 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Neutropenia, Anemia, Hyperammonemia, Thrombocytopenia |
ORPHA:289916 |
| Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... |
ORPHA:331235 |
| Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... |
OMIM:616005 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating IgA level, Recurrent fun... |
OMIM:102700 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Decreased serum thromboxane B2, Iron deficiency anemia, Abnormal circulating eicosanoid concentra... |
OMIM:618372 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
| Babesiosis |
|
Leukopenia, Recurrent infections, Splenomegaly, Recurrent pharyngitis, Thrombocytopenia, Hemolyti... |
ORPHA:108 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Acute leukemia, Bone marrow hypocellularity, Splenomegaly, Myeloproliferative disor... |
ORPHA:3226 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent bacterial infections, B lymphocytopenia, Severe varicella zoster infection, Decreased c... |
OMIM:606367 |
| Transaldolase Deficiency |
|
Abnormal circulating glutamine concentration, Anemia, Hepatosplenomegaly, Increased serum bile ac... |
ORPHA:101028 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production |
OMIM:300367 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:613779 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Prolonged bleeding time, Giant plate... |
ORPHA:182050 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Abnormal hemoglobin, Anemia, Splenomegaly, Microcytic anemia, Th... |
ORPHA:848 |
| Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Thrombocytopenia, Sepsis, Elevated circulating C-reactive protein con... |
ORPHA:49566 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Infectious encephalitis, Leukopenia, Prolonged prothrombin time, R... |
OMIM:603553 |
| Leishmaniasis |
|
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating antibody ... |
ORPHA:507 |
| Immune Deficiency Disease |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM |
OMIM:242850 |
| Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
| Immunodeficiency 91 And Hyperinflammation |
|
BCGosis, Monocytosis, Recurrent lower respiratory tract infections, Neutrophilia, Hepatosplenomeg... |
OMIM:619644 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
| Hepatoportal Sclerosis |
|
Leukopenia, Prolonged prothrombin time, Anemia, Hyperbilirubinemia, Recurrent infections, Splenom... |
ORPHA:64743 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
| Wiskott-Aldrich Syndrome |
|
Sepsis, Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chroni... |
ORPHA:906 |
| Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Helicobacter pylori infection |
ORPHA:275555 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
| Relapsing Fever |
|
Leukocytosis, Leukopenia, Prolonged prothrombin time, Elevated circulating creatinine concentrati... |
ORPHA:91547 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Recurrent infections |
OMIM:617718 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... |
OMIM:600903 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:615085 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... |
OMIM:612541 |
| Felty Syndrome |
|
Sepsis, Neutropenia, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Anemia, Recurre... |
ORPHA:47612 |
| Wiskott-Aldrich Syndrome |
|
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... |
OMIM:301000 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612926 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level |
OMIM:206200 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... |
ORPHA:274 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent ear infections, Recurrent viral infections, Anemia, Chronic mucocutaneous candidiasis, ... |
ORPHA:79124 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Thrombocytopenia, Bone marrow hypocellularity, Leukopenia, Refractory anemia |
OMIM:231095 |
| Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Hereditary Folate Malabsorption |
|
Decreased circulating antibody level, Megaloblastic anemia, Recurrent urinary tract infections, R... |
ORPHA:90045 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Leukopenia, Anemia, Hyperammonemia, Thrombocytopenia |
ORPHA:27 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| X-Linked Agammaglobulinemia |
|
Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Anemia, Meningiti... |
ORPHA:47 |
| Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:158061 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... |
OMIM:307200 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:613987 |
| Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Absence of alpha granules, Thrombocytopenia, Prolonged bleeding time |
OMIM:187900 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Sepsis, Decreased proportion of class-switched memory B c... |
OMIM:614700 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Stormorken Syndrome |
|
Asplenia, Elevated circulating creatine kinase concentration, Anemia, Howell-Jolly bodies, Thromb... |
OMIM:185070 |
| Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
| Amed Syndrome, Digenic |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Acute myeloid leukemia, Thrombocytopenia |
OMIM:619151 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Sepsis, Neutropenia, Infectious encephalitis, Leukopenia, Anemia, Hyperammonemia, A... |
ORPHA:292 |
| Pgm3-Cdg |
|
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... |
ORPHA:443811 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:233710 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Anemia, Splenomegaly, Hyperammonemia, Thrombocytopenia |
ORPHA:79312 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopen... |
ORPHA:100026 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... |
ORPHA:183675 |
| Hermansky-Pudlak Syndrome 5 |
|
Thrombocytopenia, Prolonged bleeding time |
OMIM:614074 |
| Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion, Abnormal erythrocyte mor... |
ORPHA:324636 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
| Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia |
OMIM:614171 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun... |
OMIM:304790 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Hepatosplenomegaly, Bone marrow hypocellularity, Increased circulating ferritin... |
ORPHA:210136 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:306400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... |
OMIM:233690 |
| Isovaleric Acidemia |
|
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Leukopenia |
OMIM:243500 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Hypercholesterolemia, Hepatosplenomegaly, Recu... |
ORPHA:263501 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
OMIM:610333 |
| Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
| Primary Myelofibrosis |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... |
ORPHA:824 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Sepsis, Recurrent bacterial infections, Leukopenia, Anemia, Recurrent... |
OMIM:617053 |
| Pelger-Huet Anomaly |
|
Neutropenia, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Giant platelets, Thro... |
OMIM:169400 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... |
OMIM:300291 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Anemia, Hypoalbuminemia |
OMIM:608104 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia |
OMIM:254900 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Anemia, Thrombocytopenia |
OMIM:614857 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Recurrent infections, Splenomegaly |
OMIM:619463 |
| Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... |
OMIM:214500 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:230900 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Systemic Lupus Erythematosus |
|
Thrombocytopenia, Hemolytic anemia, Leukopenia |
OMIM:152700 |
| Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Increased circulating antibody level, Splenomegaly |
OMIM:615846 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Sepsis, Recurrent bacterial infections, Neutropenia, Panc... |
ORPHA:811 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Anemia, Hyperuricemia, Hypomagnesemia, Thrombocytopenia |
OMIM:613845 |
| Immunodeficiency 23 |
|
Severe varicella zoster infection, Neutropenia, Increased circulating IgG level, Chronic mucocuta... |
OMIM:615816 |
| Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Meningitis, Increased circulating antibody level, Thrombocyt... |
ORPHA:3392 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating... |
ORPHA:540 |
| Prothrombin Deficiency, Congenital |
|
Prolonged prothrombin time, Prolonged bleeding time |
OMIM:613679 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Recurrent bacterial infections, Anemia, Hypocalcemia |
OMIM:244460 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time |
ORPHA:1059 |
| Cyclic Neutropenia |
|
Sepsis, Opportunistic infection, Lymphopenia, Cyclic neutropenia, Recurrent tonsillitis, Thromboc... |
ORPHA:2686 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circulating creatinin... |
OMIM:235400 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Anemia, Recurrent infections |
OMIM:611209 |
| Tufted Angioma |
|
Thrombocytopenia, Anemia |
ORPHA:1063 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Neutropenia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm... |
OMIM:251110 |
| Good Syndrome |
|
Decreased circulating antibody level, Anemia, Recurrent urinary tract infections, Thrombocytopeni... |
ORPHA:169105 |
| Prolidase Deficiency |
|
Anemia, Recurrent infections, Splenomegaly, Increased circulating antibody level, Recurrent pneum... |
OMIM:170100 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia |
OMIM:249270 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Recurrent gram... |
OMIM:116920 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
| Immunodeficiency 47 |
|
Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating copper con... |
OMIM:300972 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... |
OMIM:274150 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia |
OMIM:251000 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Recurrent infections, Splenomegaly, Increased circulating antibody level, Lymphopenia, Hy... |
OMIM:617591 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... |
ORPHA:101096 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Bone marrow hypocellulari... |
OMIM:617303 |
| Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormal platelet morphology, Abnormality of thrombocytes |
ORPHA:3318 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Neutropenia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm... |
OMIM:251100 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, No... |
OMIM:610377 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Neutropenia, Prolonged prothrombin time, Recurrent infections, Thrombocytopenia |
OMIM:617941 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesi... |
OMIM:259720 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections |
OMIM:615978 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Anemia, Congenital thrombocytopenia |
OMIM:618886 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Prolonged prothrombin time, Elevated circulating acylcarnitine concentration, Elevated creatine k... |
ORPHA:99901 |
| Avian Influenza |
|
Sepsis, Infectious encephalitis, Leukopenia, Elevated circulating creatine kinase concentration, ... |
ORPHA:454836 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia |
OMIM:259710 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Impaired T cell function, Elevated circulating creatine kinase concentration, Recurrent infection... |
OMIM:614576 |
| Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Decreased circulating antibody level, Bone ... |
ORPHA:381 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Recurrent infecti... |
OMIM:242900 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration |
ORPHA:3240 |
| Congenital Rubella Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly |
ORPHA:290 |
| Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
| Sea-Blue Histiocytosis |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
ORPHA:158029 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Neonatal Lupus Erythematosus |
|
Neutropenia, Anemia, Splenomegaly, Aplastic anemia, Pancytopenia, Thrombocytopenia, Hemolytic anemia |
ORPHA:398124 |
| Leukocyte Adhesion Deficiency |
|
Recurrent bacterial infections, Thrombocytosis, Leukocytosis, Sepsis, BCGosis, Polycythemia, Recu... |
ORPHA:2968 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Hyponatremia, Leukocytosis |
ORPHA:83601 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hyperhomocystinemia, Methylmalonic acidemia, Neutropenia, Cystathioninemia, Megaloblastic anemia,... |
OMIM:277380 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Immunodeficiency 87 And Autoimmunity |
|
Recurrent bacterial infections, Sepsis, Elevated circulating C-reactive protein concentration, Hy... |
OMIM:619573 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... |
ORPHA:221139 |
| Propionic Acidemia |
|
Neutropenia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Thrombocytopenia |
OMIM:606054 |
| Lysosomal Acid Lipase Deficiency |
|
Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholesterol concentration, Bon... |
OMIM:278000 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Sepsis, Increased circulating myelocyte count, Severe varicella zoster infection... |
ORPHA:36234 |
| Vici Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... |
OMIM:242840 |
| Vexas Syndrome |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia |
OMIM:301054 |
| Sickle Cell Anemia |
|
Recurrent bacterial infections, Leukocytosis, Splenomegaly, Increased red cell sickling tendency,... |
OMIM:603903 |
| Dengue Fever |
|
Hypoproteinemia, Thrombocytopenia, Leukopenia |
ORPHA:99828 |
| Complement Factor I Deficiency |
|
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... |
OMIM:610984 |
| Letterer-Siwe Disease |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
| Overlap Myositis |
|
Leukopenia, Elevated circulating creatine kinase concentration, Abnormal circulating lipid concen... |
ORPHA:206572 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Chronic infection, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia |
ORPHA:520 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Leukocytosis, Anemia |
ORPHA:90060 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Sepsis In Premature Infants |
|
Leukocytosis, Neutropenia, Anemia, Splenomegaly, Disseminated viral infection, Meningitis, Neonat... |
ORPHA:90051 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Recurrent lower ... |
ORPHA:508542 |
| Lysinuric Protein Intolerance |
|
Decreased circulating antibody level, Hyperglycinemia, Hyperammonemia, Increased circulating ferr... |
ORPHA:470 |
| Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Recurrent infections, Persistence of hemoglobin F, Acute myeloid leukemia, P... |
OMIM:260400 |
| Lig4 Syndrome |
|
Pancytopenia, Thrombocytopenia |
OMIM:606593 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Thrombocytopenia 1 |
|
Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocytopenia, I... |
OMIM:313900 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia |
OMIM:614520 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
ORPHA:79242 |
| Fetal Gaucher Disease |
|
Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Neutropenia, Neonatal sepsis, Thrombocytopenia |
ORPHA:391673 |
| Kasabach-Merritt Syndrome |
|
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Prolonged prothrombin time, Anemia, R... |
ORPHA:2330 |
| Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Impaired T cell function,... |
ORPHA:1830 |
| Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Calcinosis, Abnormal platelet function, Hypocalcemic seizures, Hypocalcemia,... |
ORPHA:79443 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
| Alg12-Cdg |
|
Hyponatremia, B lymphocytopenia, Sepsis, Recurrent ear infections, Complete or near-complete abse... |
ORPHA:79324 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Aplastic anemia |
OMIM:613989 |
| Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased circulating antibody level, Impaired platelet aggregation |
ORPHA:79329 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Splenomegaly, Hypocalcemia, Pancytopenia, Thrombocytopenia |
OMIM:259700 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Gaucher Disease, Type I |
|
Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia |
OMIM:230800 |
| Boutonneuse Fever |
|
Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level, Leukopenia |
ORPHA:83313 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
| Whim Syndrome |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating antibody level, Mening... |
ORPHA:51636 |
| Wolfram Syndrome 1 |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia |
OMIM:222300 |
| Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Severe varicella zoster infection, Increased circulati... |
ORPHA:48435 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
| Transaldolase Deficiency |
|
Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:606003 |
| Ebola Hemorrhagic Fever |
|
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Hemophilia B |
|
Prolonged bleeding time |
ORPHA:98879 |
| Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Alg8-Cdg |
|
Thrombocytopenia, Hyponatremia, Anemia |
ORPHA:79325 |
| Nijmegen Breakage Syndrome |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Recurrent bronchitis, Recur... |
OMIM:251260 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, Sp... |
ORPHA:79277 |
| Snakebite Envenomation |
|
Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
| Hellp Syndrome |
|
Microangiopathic hemolytic anemia, Prolonged prothrombin time, Thrombocytopenia, Hemolytic anemia... |
ORPHA:244242 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
B lymphocytopenia, Infectious encephalitis, Recurrent herpes, Neutropenia in presence of anti-neu... |
ORPHA:391487 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Leukocytosis, Unconjugated hyperbilirubinemia, Schistocytosis, Hypokalemia, Microan... |
ORPHA:90038 |
| Wilson Disease |
|
Thrombocytopenia, Anemia, Splenomegaly |
ORPHA:905 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Noonan Syndrome |
|
Abnormality of the spleen, Abnormal platelet function |
ORPHA:648 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
OMIM:253270 |
| Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Hypersplenism, Pancytopen... |
ORPHA:77259 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Sepsis, Leukopenia, Decreased circulating IgG level, Bone marrow hypocellularity, Anemia, Hepatos... |
ORPHA:505248 |
| Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Thrombocytosis, Hyponatremia, Leukocytosis, Sepsis, Hypernatremia, Elevated circula... |
ORPHA:94093 |
| Zika Virus Disease |
|
Thrombocytopenia, Infectious encephalitis, Increased circulating IgM level, Meningitis |
ORPHA:448237 |
| Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis, Splenomegaly |
ORPHA:36412 |
| Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... |
ORPHA:447 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Abnormal leukocyte morphology |
ORPHA:3322 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Anemia, Bone marrow hypocellularity, Lymphopenia, Thrombocytopenia, Aplastic anemia |
OMIM:127550 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypomethioninemia, Hyperhomocystinemia, Methylmalonic acidemia, Neutropenia, Cystathioninemia, Me... |
OMIM:277400 |
| Fanconi Anemia, Complementation Group E |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:600901 |
| Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... |
OMIM:248500 |
| Fanconi Anemia, Complementation Group A |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227650 |
| Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
| Castleman Disease |
|
Thrombocytopenia, Decreased mean corpuscular volume, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
| Pseudo-Torch Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:251290 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Shigellosis |
|
Hyponatremia, Leukocytosis, Sepsis, Splenic abscess, Microangiopathic hemolytic anemia, Thrombocy... |
ORPHA:810 |
| Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Neutropenia, Hyperlipidemia, Hyperuricemia |
OMIM:232220 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia, Leukopenia |
OMIM:301056 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Splenomegaly, Hyperammonemia, Increased circulating ferritin concentration, T... |
OMIM:222700 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Aplastic anemia |
OMIM:613990 |
| Complement Component 5 Deficiency |
|
Recurrent meningococcal disease |
OMIM:609536 |
| Fanconi Anemia, Complementation Group C |
|
Neutropenia, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocytopenia, Pancytopenia, Thro... |
OMIM:227645 |
| Pediatric Systemic Lupus Erythematosus |
|
Thrombocytopenia, Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia |
ORPHA:93552 |
| Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Hypokalemia, Leukopenia, Prolonged prothrombin time, Elevated circulating creati... |
ORPHA:99826 |
| Q Fever |
|
Infectious encephalitis, Unusual infection, Anemia, Splenomegaly, Meningitis, Increased circulati... |
ORPHA:781 |
| Gaucher Disease Type 3 |
|
Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Recur... |
ORPHA:77261 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
