| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... |
OMIM:247800 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Increased circulating IgM le... |
OMIM:618534 |
| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Proteinuria, Autoimmunity, Increased CD4:CD8 ratio, Impaired ly... |
OMIM:617006 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... |
OMIM:601859 |
| Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:247630 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... |
OMIM:615285 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... |
OMIM:615513 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... |
OMIM:603909 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... |
OMIM:610163 |
| Immunodeficiency 24 |
|
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... |
OMIM:615897 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Reduced delayed hypersensitivity |
OMIM:267900 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circula... |
ORPHA:277 |
| Eosinophilia, Familial |
|
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia |
OMIM:131400 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... |
OMIM:619220 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level |
OMIM:314000 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... |
OMIM:153600 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... |
OMIM:606843 |
| Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... |
OMIM:618944 |
| Immunodeficiency 72 With Autoinflammation |
|
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... |
OMIM:618982 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... |
OMIM:202700 |
| Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... |
OMIM:613496 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... |
OMIM:619375 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity, Recurrent otitis... |
OMIM:618495 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia |
ORPHA:517 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... |
OMIM:614470 |
| Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Immunodeficiency 27A |
|
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... |
OMIM:209950 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... |
OMIM:608106 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... |
ORPHA:444463 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... |
OMIM:615767 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent otitis media, Defective T ce... |
OMIM:615615 |
| C1Q Deficiency |
|
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Decreased s... |
OMIM:613652 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Immunodeficiency 8 |
|
Lymphopenia, Hyperactivity |
OMIM:615401 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... |
OMIM:187800 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... |
ORPHA:766 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Sebastian syndrome |
|
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets |
OMIM:605249 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... |
ORPHA:169154 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... |
OMIM:607594 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
| Candidiasis, Familial, 2 |
|
Increased circulating IgE level, Chronic oral candidiasis, Decreased serum iron, Hypereosinophili... |
OMIM:212050 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Immunodeficiency 60 |
|
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Decreased baso... |
OMIM:618394 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... |
OMIM:618987 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver |
OMIM:235550 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin |
ORPHA:231393 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... |
OMIM:619271 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:613493 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... |
OMIM:308240 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia |
OMIM:600208 |
| Schnitzler Syndrome |
|
Skin rash, Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lym... |
ORPHA:37748 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal... |
OMIM:613779 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity |
OMIM:616871 |
| Agammaglobulinemia 8, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus ... |
OMIM:152700 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... |
ORPHA:86841 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... |
OMIM:615008 |
| Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgG level, Increased circulating IgA level |
OMIM:144120 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Antinuclear antibody positivity |
OMIM:613495 |
| C3 Glomerulopathy |
|
Hematuria, Acute kidney injury, Autoimmunity, Decreased serum complement C4, Membranoproliferativ... |
ORPHA:329918 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Thrombocytope... |
ORPHA:169079 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets |
OMIM:155100 |
| Immunodeficiency, Common Variable, 14 |
|
Defective B cell differentiation, Decreased specific antibody response to vaccination, Decreased ... |
OMIM:617765 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy |
ORPHA:482 |
| Transcobalamin Deficiency |
|
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... |
ORPHA:859 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... |
OMIM:615631 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jon... |
ORPHA:100024 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... |
OMIM:300835 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| Severe Combined Immunodeficiency, X-Linked |
|
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... |
OMIM:300400 |
| Autoimmune Hepatitis |
|
Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, Sclerosing cholangitis, Jau... |
ORPHA:2137 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... |
OMIM:617241 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... |
OMIM:304790 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia |
OMIM:610539 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
| Immunodeficiency 48 |
|
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Hepatomegaly, Increased ci... |
OMIM:617388 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... |
OMIM:308230 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:617514 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... |
ORPHA:3261 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... |
OMIM:224120 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... |
ORPHA:2442 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... |
ORPHA:217390 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia |
OMIM:200900 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Reduced isohemagglutinin level, Decreased circulating total I... |
OMIM:614699 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... |
OMIM:619201 |
| Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Uveitis, Reversible renal failure, Circulating immune complexes, Acute tubulointersti... |
OMIM:607665 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... |
OMIM:102700 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skin rash, Pustule, Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperpl... |
OMIM:615934 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Partial absence of specific antibody response to unconjugated pneumococcus v... |
OMIM:240500 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Thrombocytopenia 2 |
|
Thrombocytopenia |
OMIM:188000 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Pancytopenia And Occlusive Vascular Disease |
|
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia |
OMIM:167850 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Conjugated hyperbilirubinem... |
OMIM:616860 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Folliculitis, Acne, Inflammation ... |
OMIM:300635 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... |
OMIM:300988 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the t... |
OMIM:603554 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit... |
OMIM:619281 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Fechtner syndrome |
|
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... |
ORPHA:449400 |
| Cyclic Neutropenia |
|
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Tooth abscess, Lymphopenia, Perio... |
ORPHA:2686 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... |
OMIM:133180 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Acute kidney injury, Decreased serum complement C4, Synovitis, Abnormal glomerular mes... |
ORPHA:567544 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules |
ORPHA:238459 |
| T-Cell Receptor-Alpha/Beta Deficiency |
|
Hypereosinophilia, Lymphadenopathy |
OMIM:615387 |
| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... |
OMIM:619263 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... |
OMIM:603552 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Decreased serum complement fac... |
ORPHA:2134 |
| Complement Component C1S Deficiency |
|
Abnormality of complement system, Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis |
OMIM:613783 |
| Myh9-Related Disease |
|
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... |
ORPHA:182050 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:605258 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:615214 |
| Sitosterolemia 1 |
|
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... |
OMIM:210250 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Autoimmune antibody positivity, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... |
ORPHA:2688 |
| Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
| Iga Pemphigus |
|
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... |
ORPHA:555905 |
| Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis, Complement deficiency, Systemic lupus erythematosus |
OMIM:614380 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:613500 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia |
OMIM:615715 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Bronchiectasi... |
OMIM:300853 |
| Autoimmune Lymphoproliferative Syndrome, Type V |
|
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... |
OMIM:616100 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia |
ORPHA:231401 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Pancytopenia, Thrombocytopenia, Hypoplastic a... |
OMIM:159550 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome |
ORPHA:69063 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Skin rash, Decreased circulating total IgM, Decreased circulating antibody level, Autoimmunity, A... |
ORPHA:331206 |
| Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... |
OMIM:613101 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
| Immunodeficiency 70 |
|
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... |
OMIM:618969 |
| Pgm3-Cdg |
|
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... |
ORPHA:443811 |
| Igg4-Related Kidney Disease |
|
Increased circulating IgG1 level, Abnormality of mesentery morphology, Hematuria, Pericarditis, A... |
ORPHA:449395 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... |
OMIM:300908 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... |
OMIM:606367 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis |
OMIM:206200 |
| Chilblain Lupus |
|
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Discoid lupus rash... |
ORPHA:90280 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anem... |
ORPHA:673 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... |
ORPHA:3203 |
| Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Systemic lupus erythematosus, Increased circulating antibody level, Rheumatoid arthritis, IgA dep... |
OMIM:178610 |
| Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive |
|
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Chronic diarrhea, Kerati... |
OMIM:618523 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anemia, Hep... |
OMIM:607115 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... |
OMIM:256020 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Increased proportion of C... |
OMIM:617099 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... |
ORPHA:276 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Anemia, Hype... |
OMIM:603278 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... |
ORPHA:169160 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Neutropenia, Anemia |
OMIM:614082 |
| Apolipoprotein A-I Deficiency |
|
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... |
ORPHA:425 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Refractory Anemia |
|
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... |
ORPHA:98826 |
| Boutonneuse Fever |
|
Skin rash, Increased circulating IgM level, Maculopapular exanthema, Lymphadenopathy, Thrombocyto... |
ORPHA:83313 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impai... |
OMIM:267500 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreas... |
OMIM:611926 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets |
OMIM:231200 |
| Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... |
OMIM:619130 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Chronic mucocutaneous candidia... |
OMIM:147060 |
| Cirrhosis, Familial |
|
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Rheumatoid factor positive, Splenomegaly,... |
OMIM:618852 |
| Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity |
OMIM:608898 |
| Halothane Hepatitis |
|
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia |
OMIM:234350 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia |
OMIM:617475 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... |
OMIM:613092 |
| Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
| Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... |
OMIM:613011 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... |
ORPHA:75564 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased size of the mandible, Increased mean platelet volume |
OMIM:300048 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Difficulty walking, Elevated circulating creatine kinase concentration, Eosinophilia |
OMIM:253600 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Thrombocytopenia, Nephrotic synd... |
OMIM:254900 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... |
OMIM:601457 |
| Polycythemia Vera |
|
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... |
OMIM:263300 |
| Galactosemia I |
|
Increased level of galactitol in red blood cells, Cirrhosis, Hemolytic anemia, Albuminuria, Incre... |
OMIM:230400 |
| Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Autoimmunity, Hepatic steatosis, Glomerulopathy, Microscopic hematuria, Decreased ... |
ORPHA:79087 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Membranous nephropathy, Nephro... |
OMIM:618999 |
| Insulin Autoimmune Syndrome |
|
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Autoimmune anti... |
ORPHA:411593 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... |
OMIM:618963 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis |
OMIM:182690 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Anti-liver cytosolic antigen ... |
ORPHA:37042 |
| Immunodeficiency 23 |
|
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Bronchiectasi... |
OMIM:615816 |
| Nephrotic Syndrome, Type 13 |
|
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... |
OMIM:616893 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Recurrent otitis media, Agammaglobulinemia, Neutropenia |
OMIM:613501 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Hyper-Igd Syndrome |
|
Skin rash, Serositis, Chronic oral candidiasis, Leukocytosis, Lymphadenitis, Renal angiomyolipoma... |
OMIM:260920 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Focal Segmental Glomerulosclerosis 8 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:616032 |
| Nephrotic Syndrome, Type 20 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:301028 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... |
OMIM:169400 |
| Nephrotic Syndrome, Type 19 |
|
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... |
OMIM:618178 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... |
OMIM:616002 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level |
OMIM:617744 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Incr... |
OMIM:600903 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
| Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... |
OMIM:618176 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Neutropenia in presence of anti-neu... |
ORPHA:231154 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Chronic oral candidiasis, Autoimmunity, Decreased proportion of CD3-positive T cells, ... |
ORPHA:275 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... |
OMIM:612541 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Impaired Ig class switc... |
OMIM:608184 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Cirrhosis, Increa... |
ORPHA:562639 |
| Immunodeficiency 36 |
|
Bronchiectasis, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphati... |
OMIM:616005 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... |
ORPHA:2585 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... |
OMIM:603965 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Incr... |
ORPHA:400 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Skin rash, Decreased proportion of CD4-positive helper T cells, Sclerosing cholangitis, Panhypoga... |
ORPHA:572 |
| Immune Deficiency Disease |
|
Decreased circulating total IgM |
OMIM:242850 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly |
ORPHA:721 |
| Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| C3 Glomerulopathy 3 |
|
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... |
OMIM:237800 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... |
OMIM:245480 |
| Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Complement deficiency, Nephritis, Arthritis |
OMIM:216950 |
| Immunodeficiency 47 |
|
Cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Prolonged neona... |
OMIM:300972 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Neutropenia, Nephropathy, Gout, Renal cyst, Chronic kidney di... |
OMIM:617056 |
| Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy |
OMIM:617718 |
| Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
| Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glome... |
ORPHA:567548 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Diarrhea, Myocarditis, Sin... |
ORPHA:36234 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia |
OMIM:613977 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy |
OMIM:608971 |
| Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Recurrent skin infections, Anemia, Sple... |
OMIM:612840 |
| Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Nephroti... |
OMIM:615846 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:619164 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Fanconi Anemia, Complementation Group V |
|
Neutropenia, Elevated alpha-fetoprotein, Thrombocytopenia, Anemia, Bone marrow hypocellularity |
OMIM:617243 |
| Familial Mediterranean Fever |
|
Peritonitis, Pericarditis, Renal amyloidosis, Leukocytosis, Orchitis, Hepatomegaly, Vomiting, Ery... |
OMIM:249100 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... |
OMIM:618986 |
| Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis, Increased circulating IgE level |
OMIM:147050 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, Increased circulating antibody level, Skin rash, Lymphadenopathy |
OMIM:618048 |
| Complement Component 4B Deficiency |
|
Decreased serum complement C4b, Chronic active hepatitis |
OMIM:614379 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Abnormal circulating lipid concentration, Membranoproliferative glomerulonephritis, Ne... |
OMIM:608709 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia |
OMIM:616435 |
| Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Inflammation... |
OMIM:618108 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatit... |
ORPHA:79312 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... |
OMIM:601495 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... |
OMIM:612926 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Dystonia, Hepatosplenomegaly |
OMIM:610329 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia, Skin rash, Recurrent pneumonia, Autoimmunity, Chronic otitis media, Neutropenia, Th... |
ORPHA:47 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, E... |
OMIM:614493 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... |
OMIM:310468 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... |
OMIM:618204 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Proteinuri... |
ORPHA:470 |
| Fusariosis |
|
Lung abscess, Peritonitis, Osteomyelitis, Abnormality of the kidney, Bronchiectasis, Lymphopenia,... |
ORPHA:228119 |
| Shigellosis |
|
Peritonitis, Acute kidney injury, Pneumonia, Myocarditis, Vomiting, Bloody diarrhea, Paralytic il... |
ORPHA:810 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent pneumonia, Increased circulating IgM level, Enlarged kidney, Focal segmental glomerulos... |
OMIM:617303 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Leukopenia, Athetosis |
OMIM:229050 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume |
OMIM:252270 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis, Hyperammon... |
ORPHA:289916 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:612551 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... |
ORPHA:846 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... |
ORPHA:521 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Ascites, Anemia |
ORPHA:295 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Microscopic Polyangiitis |
|
Peritonitis, Skin rash, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Increased inflammat... |
ORPHA:727 |
| Multiple Myeloma |
|
Acute kidney injury, Decreased circulating antibody level, Nephropathy, Abnormality of the bladde... |
ORPHA:29073 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Focal Segmental Glomerulosclerosis 5 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:613237 |
| Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... |
OMIM:301000 |
| Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... |
ORPHA:486 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia, Bronchiectasis |
OMIM:193670 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... |
OMIM:613673 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... |
OMIM:614131 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell m... |
OMIM:242900 |
| Insulin-Resistance Syndrome Type B |
|
Skin rash, Abnormal circulating lipid concentration, Pneumonia, Increased circulating IgG level, ... |
ORPHA:2298 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Panhypogammaglobulinemia, Pneumonia... |
OMIM:602450 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:607832 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Dystonia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Thrombocytosis, Autoimmunity, Decreased circulating antibody level, Lymphope... |
OMIM:617780 |
| Immunodeficiency 49 |
|
Micrognathia, Lymphopenia, Natal tooth, Eosinophilia |
OMIM:617237 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Anemia, Asc... |
ORPHA:2070 |
| Thrombocytopenia 5 |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:616216 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... |
OMIM:613179 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... |
OMIM:300291 |
| Primary Biliary Cholangitis |
|
Gastrointestinal inflammation, Cirrhosis, Increased circulating IgM level, Autoimmunity, Hepatoce... |
ORPHA:186 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia |
OMIM:243700 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Diarrhea, Recurrent p... |
OMIM:613502 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria |
OMIM:134610 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... |
ORPHA:98870 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Reduced natural ki... |
OMIM:242860 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Gastrointestinal hemorrhage, Hepatomegaly, Diarrhea, Increased circulating IgA level... |
ORPHA:343 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Ataxia, Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatitis, Hyperammonemi... |
ORPHA:27 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C... |
OMIM:313900 |
| Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 c... |
OMIM:617575 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly |
OMIM:615085 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Micrognathia, Eosinophilia |
OMIM:618282 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased serum compleme... |
OMIM:613913 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Unsteady gait, Eosinophilia |
OMIM:618092 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Schimke Immuno-Osseous Dysplasia |
|
Focal segmental glomerulosclerosis, Autoimmunity, Abnormal proportion of naive CD4 T cells, Lymph... |
ORPHA:1830 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Crescentic glo... |
OMIM:616414 |
| Necrotizing Enterocolitis |
|
Peritonitis, Leukocytosis, Neutropenia, Thrombocytopenia, Diarrhea, Vomiting, Bloody diarrhea |
ORPHA:391673 |
| Primary Membranoproliferative Glomerulonephritis |
|
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... |
ORPHA:54370 |
| Nephrotic Syndrome, Type 15 |
|
