Eosinophilia, Familial |
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Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Hypereosinophilic Syndrome, Idiopathic |
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Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Myeloproliferative ... |
OMIM:607685 |
Loeffler Endocarditis |
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Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... |
ORPHA:75566 |
Immunodeficiency 88 |
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Eosinophilia |
OMIM:619630 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Eosinophilia, Neutropenia |
OMIM:257100 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
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Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Nevoid Hypermelanosis, Linear And Whorled |
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Eosinophilia |
OMIM:614323 |
Ichthyosis-Prematurity Syndrome |
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Eosinophilia |
ORPHA:88621 |
Acute Myelomonocytic Leukemia |
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Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Juvenile Temporal Arteritis |
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Eosinophilia, Leukocytosis |
ORPHA:26137 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... |
OMIM:212050 |
Generalized Eruptive Histiocytosis |
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Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Lymphopenia, Eosinophilia |
ORPHA:2582 |
Immunodeficiency 32B |
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Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... |
OMIM:226990 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
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Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Autoimmune Lymphoproliferative Syndrome |
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Vasculitis, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-n... |
OMIM:601859 |
Kimura Disease |
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Eosinophilia |
ORPHA:482 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Eosinophilopenia |
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Decreased eosinophil count |
OMIM:131430 |
Eosinophilic Gastroenteritis |
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Hypoalbuminemia, Hematochezia, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protei... |
ORPHA:2070 |
Cinca Syndrome |
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Hepatosplenomegaly, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein concentra... |
OMIM:607115 |
Eosinophil Peroxidase Deficiency |
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Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Vasculitis, Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Splenomegaly, Elevated prop... |
OMIM:603909 |
Roifman Syndrome |
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Noncompaction cardiomyopathy, Eosinophilia, Splenomegaly, Ventricular septal defect |
OMIM:616651 |
Immunodeficiency 11B With Atopic Dermatitis |
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Eosinophilia |
OMIM:617638 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
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Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
Wells Syndrome |
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Eosinophilia |
ORPHA:901 |
Roifman Syndrome |
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Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Tropical Endomyocardial Fibrosis |
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Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Esophagitis, Eosinophilic, 1 |
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Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
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Eosinophilia |
OMIM:613412 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
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Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
Eosinophilic Fasciitis |
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Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Cutaneous abscess, Eosinophilia, Atrial septal defect, Sterile abscess, Pulmonic stenosis |
OMIM:618282 |
Atrial Fibrillation, Familial, 10 |
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Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
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Eosinophilia |
OMIM:618523 |
Autosomal Dominant Severe Congenital Neutropenia |
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Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... |
ORPHA:98849 |
Omenn Syndrome |
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Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
Immunodeficiency 7 |
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Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia |
OMIM:615387 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Achalasia, Neutropenia in presence... |
OMIM:615952 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
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Eosinophilia |
OMIM:620532 |
Atrial Septal Defect, Sinus Venosus Type |
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Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
Autoinflammation With Arthritis And Dyskeratosis |
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Hypereosinophilia, Splenomegaly, Corneal neovascularization, Autoimmune hemolytic anemia, Elevate... |
OMIM:617388 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Coronary Arterial Fistula |
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Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
Eosinophilic Granulomatosis With Polyangiitis |
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Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... |
ORPHA:183 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... |
OMIM:304790 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Hypertrophic cardiomyopathy, Tricuspid regurgitation, Absent circulating B cells, Decreased propo... |
OMIM:619705 |
Immunodeficiency 25 |
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Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
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Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... |
ORPHA:422 |
Peeling Skin Syndrome 1 |
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Eosinophilia |
OMIM:270300 |
Immunodeficiency 49 |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
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Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia |
ORPHA:169160 |
Omenn Syndrome |
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Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia |
ORPHA:39041 |
Peripartum Cardiomyopathy |
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Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
Idiopathic Acute Eosinophilic Pneumonia |
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Abnormal eosinophil morphology |
ORPHA:724 |
Pgm3-Cdg |
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Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Idiopathic Hypereosinophilic Syndrome |
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Hepatosplenomegaly, Myocardial eosinophilic infiltration, Neutrophilia, Myeloproliferative disord... |
ORPHA:3260 |
Aspergillosis |
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Eosinophilia, Intracranial hemorrhage, Neutropenia |
ORPHA:1163 |
O'Sullivan-Mcleod Syndrome |
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Eosinophilia |
ORPHA:99965 |
Igg4-Related Aortitis |
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Elevated circulating C-reactive protein concentration, Hypereosinophilia |
ORPHA:449400 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Myocarditis, Cardiac arrest, Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
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Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Cystic Echinococcosis |
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Peritoneal abscess, Abnormal heart morphology, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinop... |
ORPHA:400 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Reduced natural killer cell count, Cutaneous abscess, Cerebral vasculitis, Decreased proportion o... |
OMIM:243700 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
Immunodeficiency 23 |
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Lymphopenia, Abscess, Eosinophilia, Neutropenia, Vasculitis in the skin, Hemolytic anemia |
OMIM:615816 |
Hereditary Folate Malabsorption |
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Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
Late-Onset Isolated Acth Deficiency |
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Normocytic anemia, Hypotension, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Ort... |
ORPHA:199299 |
Allergic Bronchopulmonary Aspergillosis |
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Abnormal eosinophil morphology, Pulmonary arterial hypertension |
ORPHA:1164 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... |
OMIM:602450 |
Acute Generalized Exanthematous Pustulosis |
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Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
Mucoepithelial Dysplasia, Hereditary |
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Cor pulmonale, Eosinophilia, Corneal neovascularization, Melena |
OMIM:158310 |
Angiostrongyliasis |
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Hypereosinophilia, Irritability |
ORPHA:74 |
Incontinentia Pigmenti |
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Congestive heart failure, Cerebral ischemia, Attention deficit hyperactivity disorder, Pulmonary ... |
ORPHA:464 |
Netherton Syndrome |
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Hypereosinophilia |
OMIM:256500 |
Alveolar Echinococcosis |
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Cutaneous abscess, Budd-Chiari syndrome, Abnormal pericardium morphology, Portal hypertension, Eo... |
ORPHA:284 |
Igg4-Related Pachymeningitis |
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Confusion, Mental deterioration, Eosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449427 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... |
OMIM:102700 |
Autoimmune Lymphoproliferative Syndrome |
|
Vasculitis, Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-... |
ORPHA:3261 |
Atrial Septal Defect, Ostium Primum Type |
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Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
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Eosinophilia |
ORPHA:2314 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Lymphopenia, Eosinophilia |
OMIM:617425 |
Wiskott-Aldrich Syndrome |
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Decreased mean platelet volume, Epistaxis, Decreased proportion of CD8-positive T cells, Lymphope... |
OMIM:301000 |
Atrial Septal Defect, Ostium Secundum Type |
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Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... |
ORPHA:99103 |
Immunodeficiency 89 And Autoimmunity |
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Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... |
OMIM:619632 |
Chronic Thromboembolic Pulmonary Hypertension |
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Depression, Right ventricular failure, Pulmonary embolism, Increased HDL cholesterol concentratio... |
ORPHA:70591 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... |
ORPHA:508533 |
Atrial Septal Defect, Coronary Sinus Type |
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Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... |
ORPHA:99104 |
Coccidioidomycosis |
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Vasculitis, Vasospasm, Granuloma, Abnormality of the spleen, Cerebral ischemia, Abscess, Eosinoph... |
ORPHA:228123 |
Cyclic Neutropenia |
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Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular hypertrophy, Right ventricular dilatation, Elevated circulating creatine kinase... |
OMIM:253700 |
Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular... |
OMIM:274000 |
Incontinentia Pigmenti |
|
Retinal hemorrhage, Eosinophilia, Leukocytosis |
OMIM:308300 |
Interatrial Communication |
|
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... |
ORPHA:1478 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Tricuspid regurgitation, Short attention span, Mitral valve prolapse, Dysplastic tricuspid valve,... |
OMIM:612863 |
Igg4-Related Kidney Disease |
|
Arteritis, Decreased retinol-binding protein level, Elevated circulating creatinine concentration... |
ORPHA:449395 |
Cushing Disease |
|
Memory impairment, Depression, Lymphopenia, Capillary fragility, Leukocytosis, Emotional lability... |
ORPHA:96253 |
Wiskott-Aldrich Syndrome |
|
Vasculitis, Hematochezia, Epistaxis, Abnormal eosinophil morphology, Acute leukemia, Recurrent in... |
ORPHA:906 |
Sarcoidosis |
|
Leukopenia, Hypercalcemia, Portal hypertension, Increased T cell count, Arrhythmia, Abnormal card... |
ORPHA:797 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Igg4-Related Ophthalmic Disease |
|
Elevated circulating C-reactive protein concentration, Eosinophilia |
ORPHA:449563 |
Viss Syndrome |
|
Coronary sinus enlargement, Hypereosinophilia, Right ventricular hypertrophy, Mitral valve prolap... |
OMIM:619472 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation |
ORPHA:369847 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation |
OMIM:147060 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Memory impairment, Depression, Lymphopenia, Capillary fragility, Leukocytosis, Emotional lability... |
ORPHA:99889 |
Dermatomyositis |
|
Vasculitis, Abnormal eosinophil morphology, Sinus tachycardia, Elevated circulating creatine kina... |
ORPHA:221 |
Alg9-Cdg |
|
Tricuspid regurgitation, Abnormal heart morphology, Ventricular septal defect, Irritability, Atri... |
ORPHA:79328 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia, Pulmonary insufficiency, R... |
OMIM:614437 |