| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Asthma, Leukopenia, Monocytosis, Refractory anemia, Acute myeloid leukemia |
OMIM:616871 |
| Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Recurrent sinusitis, Thrombocytosis, ... |
OMIM:619281 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
| Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Rhinitis, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Pneumonia |
OMIM:247800 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
| Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... |
OMIM:619644 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Lymphopenia, Respiratory failure |
OMIM:619773 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Positive ferric chloride test, Aminoaciduria, Hypersegmentation of neutroph... |
OMIM:229100 |
| Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration |
OMIM:607665 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Chronic pulmonary obstruction, Abnormally low T cell receptor excision ... |
OMIM:618986 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
| Diffuse Alveolar Hemorrhage |
|
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Leukocytosis, Respiratory fail... |
ORPHA:90060 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis |
OMIM:610680 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Co... |
ORPHA:91547 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Pneumonia, T lymphocytopenia |
OMIM:618806 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Recurrent sinusitis, Decreased proportion of C... |
OMIM:615518 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia |
OMIM:619164 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Decreased serum creatinine, Dyspnea, Reticulocytosis, Thromboc... |
ORPHA:54057 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:1302 |
| Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute le... |
ORPHA:231401 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia |
OMIM:266130 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612926 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612922 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... |
OMIM:604250 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... |
OMIM:612541 |
| Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Elevated circulating creatinine concentration, Cough |
OMIM:619468 |
| Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Epistaxis, Neutropenia |
OMIM:616216 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612925 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Hypoxemia, Nonproductive cough, Crackles, ... |
ORPHA:79126 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... |
ORPHA:231154 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatin... |
OMIM:274150 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... |
OMIM:619846 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:36238 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent pneumonia, Neu... |
OMIM:150550 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Elevated circulating creatinine concentration |
OMIM:616733 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... |
OMIM:618849 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Slc35A1-Cdg |
|
Respiratory distress, Giant platelets, Neutropenia, Hypoxemia, Pneumonia, Thrombocytopenia, Abnor... |
ORPHA:238459 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia |
ORPHA:277 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... |
OMIM:235400 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Apneic episodes in infancy |
OMIM:619111 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
| Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
| Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Hypoalbuminemia |
OMIM:608104 |
| Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperventilation, Tachypnea, Hyperammonemia |
OMIM:253270 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
| Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Increased circulating myelocyte count, Sinusitis, Hypocalcemia, Abscess, El... |
ORPHA:36234 |
| Nephronophthisis 2 |
|
Respiratory insufficiency, Elevated circulating creatinine concentration, Respiratory failure, Hy... |
OMIM:602088 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Pneumonia |
OMIM:266265 |
| Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
| Avian Influenza |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Lymphopenia, Nonprod... |
ORPHA:454836 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Restrictive ventilatory defect... |
OMIM:619767 |
| Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Aminoaciduria |
OMIM:615605 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... |
ORPHA:91359 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Incre... |
OMIM:613179 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Immunodeficiency 36 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... |
OMIM:616005 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Respiratory f... |
ORPHA:3226 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Asthma, Lymphopenia, Recurrent pneumonia, Neutropenia, Bronchiectasis, Cutaneous abscess, Reduced... |
OMIM:619752 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Respiratory fa... |
ORPHA:1930 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Tachypnea, Elevated circulating creatinine concentration, Pleural effusion, H... |
ORPHA:542323 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia |
OMIM:614162 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... |
ORPHA:90038 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Dyspnea, Anemia, Rh... |
ORPHA:230 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... |
ORPHA:760 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Respiratory insu... |
OMIM:608836 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, Reticulocytopenia |
ORPHA:88 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Restrictive ventilatory defect |
OMIM:614376 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Anemia, Liver... |
ORPHA:54251 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Recurrent pneumonia, Pneumonia, Decreased proporti... |
ORPHA:169160 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Adult-Onset Still Disease |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Abnormal circu... |
ORPHA:829 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
| Psoriasis 14, Pustular |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
OMIM:614204 |
| 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 |
| Senior-Loken Syndrome 1 |
|
Anemia, Elevated circulating creatinine concentration |
OMIM:266900 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Pgm3-Cdg |
|
Cutaneous abscess, Asthma, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia ... |
ORPHA:443811 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron de... |
OMIM:618885 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration, Normocytic anemia, Normochromic anemia, Pneumonia |
ORPHA:247691 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia, Hyperventilation, Normochro... |
OMIM:618775 |
| Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly |
OMIM:605309 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia, Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Leukocytosis, Epistaxis, Cough, Elevated circulating creatinine concentrati... |
ORPHA:340 |
| Marburg Hemorrhagic Fever |
|
Hypokalemia, Lymphopenia, Hyperammonemia, Nonproductive cough, Leukopenia, Elevated circulating c... |
ORPHA:99826 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Lymphopenia, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pneum... |
OMIM:600802 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Recur... |
OMIM:618935 |
| Multiple Myeloma |
|
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Ple... |
ORPHA:29073 |
| Cyclic Neutropenia |
|
Sinusitis, Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, De... |
ORPHA:2686 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein AI concentration, Hepatosplenomegaly, Decreased HDL choleste... |
ORPHA:85450 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Elevated circulating C-reactive protein concentrati... |
OMIM:617099 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:613095 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
| Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
| Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Chronic pulmonary obstruction |
ORPHA:439232 |
| Cardiogenic Shock |
|
Increased pulmonary capillary wedge pressure, Crackles, Elevated circulating creatinine concentra... |
ORPHA:97292 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Hyperuricemia, Neonatal hyp... |
ORPHA:348 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Elevated circulating creatinine concentration, Increased bloo... |
OMIM:223900 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Asthma, Sinusitis, Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eo... |
OMIM:102700 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Spleno... |
OMIM:612852 |
| Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Absent natural killer cells |
OMIM:617827 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
| Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia |
OMIM:616100 |
| Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Tachypnea, Thromb... |
OMIM:615934 |
| Ebola Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Cough, Dyspnea, Thrombocytopenia |
ORPHA:319218 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
| Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Thrombocytopenia, Pancytopenia, Pulmonary arterial hypertension, Neutropenia, Dyspne... |
OMIM:242900 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
| Immunodeficiency 23 |
|
Asthma, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Allergic rhinitis, Neutropenia, Bro... |
OMIM:615816 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Hypocalcemic tetany, Elevated circula... |
ORPHA:411634 |
| Legionnaires Disease |
|
Lymphopenia, Splenomegaly, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Hypo... |
ORPHA:549 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Lymphopenia, Splenomegaly, Hypertriglyceridemia, Anemia, Thrombocytopenia |
OMIM:617591 |
| Yellow Fever |
|
Neutrophilia, Leukocytosis, Hyperbilirubinemia, Elevated circulating creatine kinase concentratio... |
ORPHA:99829 |
| Mirage Syndrome |
|
Lymphopenia, Aspiration pneumonia, Leukopenia, Hypoplastic spleen, Hyponatremia, Anemia, Thromboc... |
OMIM:617053 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Aspiration pneumonia, Tachypnea, Abnormal blood ion concentration, Hyp... |
ORPHA:173 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:508542 |
| Fusariosis |
|
Sinusitis, Lymphopenia, Abnormality of the spleen, Brain abscess, Productive cough, Pneumonia, Ne... |
ORPHA:228119 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
| Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Pneumonia, Restrictive ... |
ORPHA:1572 |
| Sweet Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Sterile absces... |
ORPHA:3243 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Eosinophilia, Interstitial pneumonitis, De... |
ORPHA:449395 |
| Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Lymphopenia, Interstitial pneumonitis, Aplastic anemia, Anemia, Thrombocytopenia |
OMIM:127550 |
| Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... |
OMIM:250250 |
| Familial Mediterranean Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Elevated circulating amyloid... |
OMIM:249100 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Lymphopenia, Leukocy... |
ORPHA:319213 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Apnea, Hyperventilation, Neutropenia |
OMIM:617799 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation, Hyperammonemia |
ORPHA:79241 |
| Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent sinusitis, Pneumonia, Neut... |
OMIM:607944 |
| Pauci-Immune Glomerulonephritis |
|
Dyspnea, Elevated circulating creatinine concentration, Cough |
ORPHA:93126 |
| Ataxia-Telangiectasia |
|
Sinusitis, Lymphopenia, Elevated alpha-fetoprotein, Hypoplasia of the thymus, T lymphocytopenia, ... |
OMIM:208900 |
| Whim Syndrome |
|
Sinusitis, Lymphopenia, Recurrent pneumonia, Pneumonia, Neutropenia, Bronchiectasis, Abnormality ... |
ORPHA:51636 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation |
OMIM:614325 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreas... |
OMIM:600903 |
| Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Lymphopenia, Abnormal eosinophil morphology, Chronic pulmonary obstruction, Hypoplasia... |
ORPHA:906 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperventilation |
OMIM:610042 |
| Joubert Syndrome 8 |
|
Hyperventilation |
OMIM:612291 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Hyperventilation |
ORPHA:420492 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, H... |
OMIM:615688 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Hyperventilation |
ORPHA:98784 |
| Childhood Absence Epilepsy |
|
Hyperventilation |
ORPHA:64280 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Lymphopenia, Severe B lymphocytopenia, Accessory spleen, Res... |
OMIM:620005 |
| Rett Syndrome |
|
Apnea, Intermittent hyperventilation |
OMIM:312750 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Asthma, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disord... |
ORPHA:3260 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Episodic respiratory distress, Low plasma citrulline, Hyperventilation, Hyperalaninemia, D... |
ORPHA:255210 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... |
ORPHA:391487 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
| Cocaine Intoxication |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Wheezing, Tachypnea, Co... |
ORPHA:90068 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Lymphopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia... |
OMIM:619573 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Aminoaciduria, Normocytic anemia, Elevated... |
ORPHA:91500 |
| Developmental And Epileptic Encephalopathy 2 |
|
Hyperventilation |
OMIM:300672 |
| Acute Liver Failure |
|
Hyperammonemia, Abnormal pattern of respiration, Hyperventilation, Abnormal respiratory system ph... |
ORPHA:90062 |
| Encephalitis Lethargica |
|
Hyperventilation |
ORPHA:83600 |
| Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Neutrophilia, Leukocytosis, Splenomegaly |
OMIM:260920 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Lymphopenia, Decreased prealbumin level, Hypochole... |
ORPHA:90363 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia |
ORPHA:935 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Asthma, Hyperbilirubinemia, Splenomegaly, Conjugate... |
OMIM:619534 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Sleep apnea, Hyperventilation, Central apnea |
ORPHA:522077 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Intermittent hyperventilation |
ORPHA:163681 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Leukocytosis, Microcytic anemia, Recurrent pneumonia, Anemia |
ORPHA:99843 |
| Pitt-Hopkins Syndrome |
|
Abnormal pattern of respiration, Hyperventilation, Sleep apnea |
ORPHA:2896 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Hyperventilation |
OMIM:618050 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Intermittent hyperventilation |
OMIM:300749 |
| Pitt-Hopkins Syndrome |
|
Intermittent hyperventilation |
OMIM:610954 |
| Crimean-Congo Hemorrhagic Fever |
|
Neutrophilia, Leukocytosis, Splenomegaly, Hemothorax, Leukopenia, Elevated circulating creatine k... |
ORPHA:99827 |
| Pallister-Killian Syndrome |
|
Hyperventilation, Apneic episodes in infancy |
OMIM:601803 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Elevated urinary N-acetylaspartic acid level |
OMIM:618384 |
