Immunodeficiency 40 |
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Lymphopenia |
OMIM:616433 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Okt4 Epitope Deficiency |
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Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 8 |
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Lymphopenia |
OMIM:615401 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia |
OMIM:242870 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 18 |
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Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Cardiomyopathy, Dilated, 1R |
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Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Left Ventricular Noncompaction 10 |
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Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Immunodeficiency 15A |
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Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Left Ventricular Noncompaction 1 |
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Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Left Ventricular Noncompaction 8 |
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Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1Gg |
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Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Immunodeficiency 19 |
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Lymphopenia |
OMIM:615617 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells |
OMIM:608957 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Cernunnos-Xlf Deficiency |
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Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Atrial Standstill |
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Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Immunodeficiency 76 |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Polycythemia Vera |
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Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Immunodeficiency 13 |
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Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 105 |
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Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Pericardial Effusion, Chronic |
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Polycythemia, Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
Immunodeficiency 104 |
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T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Cardiomyopathy, Dilated, 1D |
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Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Immunodeficiency 48 |
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Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Immunodeficiency 14A, Autosomal Dominant |
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Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
Combined Oxidative Phosphorylation Deficiency 31 |
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Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
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Lymphopenia, Neutropenia |
OMIM:614868 |
Sick Sinus Syndrome 2 |
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Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Reticular Dysgenesis |
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Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Long Qt Syndrome 15 |
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Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
Erythrocytosis, Familial, 1 |
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Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... |
OMIM:616501 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Immunodeficiency 68 |
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Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Dehydrated Hereditary Stomatocytosis |
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Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Neutropenia, Severe Congenital, X-Linked |
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Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
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Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
Erythrocytosis, Familial, 5 |
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Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Erythrocytosis, Familial, 4 |
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Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Erythrocytosis, Familial, 6 |
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Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Immunodeficiency 57 With Autoinflammation |
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Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia |
OMIM:618108 |
Naxos Disease |
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Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Cardiomyopathy, Dilated, 1S |
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Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
Immunodeficiency 21 |
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Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Erythrocytosis, Familial, 2 |
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Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red blood cell mass, Increased ... |
OMIM:263400 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin, Epistaxis |
ORPHA:90042 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... |
OMIM:619846 |
Immunodeficiency 22 |
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Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
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Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrophy, Mitral reg... |
OMIM:619167 |
Erythrocytosis, Familial, 8 |
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Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia |
OMIM:222800 |
Erythrocytosis, Familial, 7 |
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Polycythemia, Increased hematocrit |
OMIM:617981 |
Immunodeficiency 85 And Autoimmunity |
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Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Tempi Syndrome |
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Polycythemia, Intracranial hemorrhage, Telangiectasia, Increased hematocrit |
ORPHA:284227 |
Abcd Syndrome |
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Polycythemia, Neonatal death |
OMIM:600501 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Severe Combined Immunodeficiency, X-Linked |
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Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... |
OMIM:300400 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De... |
OMIM:619374 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, D... |
OMIM:300853 |
Immunodeficiency 97 With Autoinflammation |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Immunodeficiency 102 |
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Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia |
OMIM:610163 |
Poems Syndrome |
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Polycythemia, Thrombocytosis, Pulmonary arterial hypertension, Pericardial effusion |
ORPHA:2905 |
Glutamate-Cysteine Ligase Deficiency |
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Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Myopathy |
ORPHA:33574 |
Von Hippel-Lindau Disease |
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Abnormal left ventricular function, Polycythemia, Palpitations, Arrhythmia, Myocarditis, Myocardi... |
ORPHA:892 |
Immunodeficiency 17 |
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Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... |
OMIM:600802 |
Livedoid Vasculopathy |
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Telangiectasia of the skin, Leukocytosis, Polycythemia, Pancytopenia, Hypertension, Anemia, Ische... |
ORPHA:542643 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Immunodeficiency 70 |
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Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... |
ORPHA:572 |
Burkitt Lymphoma |
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Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen |
ORPHA:543 |
Ogden Syndrome |
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Ventricular septal defect, Umbilical hernia, Intrauterine growth retardation, Cardiomegaly, Torsa... |
OMIM:300855 |
Hepatocellular Carcinoma |
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Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Splenomegaly, Polycythemia, Portal hypertension, Hypertrophic cardiomyopathy, Hypomimic face |
ORPHA:309854 |
Lymphatic Malformation 8 |
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Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Hypermanganesemia With Dystonia 1 |
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Polycythemia |
OMIM:613280 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... |
OMIM:600376 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Right atrial enlargement, Atrioventricular block, Left bundle branch block, Myofiber disarray, Pu... |
OMIM:115197 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Hepatocellular Carcinoma |
|
Budd-Chiari syndrome, Polycythemia, Hepatic necrosis, Hypotension, Thrombocytosis, Portal hyperte... |
ORPHA:88673 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Rhabdomyolysis, Myopathy, Reticulocytosis, Erythroid hyperplasia |
OMIM:300653 |
Hyperbilirubinemia, Shunt, Primary |
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Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly |
OMIM:237800 |
Cyanosis, Transient Neonatal |
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Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... |
ORPHA:911 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... |
OMIM:187300 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic ... |
OMIM:606367 |
Lymphoproliferative Syndrome 1 |
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Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... |
OMIM:613011 |
Fumarase Deficiency |
|
Polycythemia |
OMIM:606812 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
Lymphatic Malformation 7 |
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Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
Pgm3-Cdg |
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Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
Aregenerative Anemia |
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Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
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Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Thrombotic Thrombocytopenic Purpura |
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Arrhythmia, Myocardial infarction, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocyt... |
ORPHA:54057 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... |
ORPHA:79124 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... |
ORPHA:1041 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis |
OMIM:314050 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Incr... |
OMIM:232800 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Rhabdomyolysis, Reticulocytosis, Myopathy |
ORPHA:713 |
Hereditary Spherocytosis |
|
Spherocytosis, Splenomegaly, Restrictive cardiomyopathy, Extramedullary hematopoiesis, Spontaneou... |
ORPHA:822 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Congenital diaphragmatic hernia, Macroglossia, Splenomegaly, Polycythemia, Rhabd... |
ORPHA:116 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Hepatosplenomegaly, Facial palsy, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
X-Linked Lymphoproliferative Disease |
|
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... |
ORPHA:2442 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Von Hippel-Lindau Syndrome |
|
Polycythemia, Hypertension |
OMIM:193300 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Splenomegaly |
OMIM:179700 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... |
OMIM:224120 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, Thrombocy... |
ORPHA:35858 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Macrocytic anemia, Hem... |
ORPHA:71275 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... |
ORPHA:90044 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytosis, Eryt... |
OMIM:266200 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... |
ORPHA:555874 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, T... |
ORPHA:83471 |
Ataxia-Telangiectasia |
|
Lymphopenia, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased... |
OMIM:208900 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
Heart Block, Congenital |
|
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... |
OMIM:234700 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia |
ORPHA:2959 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Leukocytosis, Anisocytosis, Hepatospl... |
OMIM:618278 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia |
OMIM:607944 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:251260 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Reticulocytosis, Normochromic a... |
OMIM:235700 |
Cryohydrocytosis |
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Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio... |
ORPHA:508533 |
Selective Igm Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
Spherocytosis, Type 4 |
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Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly |
OMIM:612653 |
Wiskott-Aldrich Syndrome |
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Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Agammaglobulinemia, X-Linked |
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Anemia, Neutropenia, B lymphocytopenia, T lymphocytopenia |
OMIM:300755 |
Leukocyte Adhesion Deficiency |
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Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thrombocytosis, Abnormality of neutro... |
ORPHA:2968 |
Hereditary Elliptocytosis |
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Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elliptocytosis, Stom... |
ORPHA:288 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly |
OMIM:182900 |
Elliptocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Cardiac-Urogenital Syndrome |
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Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Accessory spleen, Te... |
OMIM:618280 |
Visceral Steatosis, Congenital |
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Myocardial steatosis, Neonatal death |
OMIM:228100 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Transient ischemic attack, Schistocytosis, Myocardial infarction, Microangiopathic hemolytic anem... |
OMIM:274150 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Abnormal left ventricular function, Abnormal tendon morphology, Sudden cardiac d... |
ORPHA:391665 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185000 |
Sitosterolemia 1 |
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Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... |
OMIM:210250 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Splenomegaly, Increased red cell hemolysis by shear stress, Increased mean corpuscular hemoglobin... |
OMIM:194380 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Hypertension |
OMIM:235400 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Anemia... |
OMIM:619381 |
Paroxysmal Nocturnal Hemoglobinuria |
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Budd-Chiari syndrome, Leukopenia, Reticulocytosis, Pulmonary embolism, Abnormal erythrocyte enzym... |
ORPHA:447 |
Kasabach-Merritt Syndrome |
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Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop... |
ORPHA:2330 |
Breast Cancer |
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OMIM:114480 |
Lung Cancer |
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OMIM:211980 |