Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Defective T cell proliferati... |
OMIM:618534 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hepatomegaly, Autoimmunity, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, S... |
OMIM:614470 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Mucoi... |
OMIM:615767 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Pulmonary insufficiency, Autoimmunity, Anti-thyroid peroxidase... |
ORPHA:277 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Decreased proportion of class-switched memory B cells, Increased circulating i... |
OMIM:618944 |
Immunodeficiency 72 With Autoinflammation |
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Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Immunodeficiency 25 |
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Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Immunodeficiency 14A, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ... |
OMIM:308240 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Vasculitis, Increas... |
ORPHA:37748 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... |
OMIM:619281 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Autoimmunity, Hepatomegaly, Failure to thrive, Lymphadenopathy, Recurrent otitis media, Splenomeg... |
OMIM:618495 |
Immunodeficiency 27A |
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Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Pneumonia, Lymphadenopathy, Weight ... |
OMIM:209950 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... |
OMIM:617006 |
Immunoglobulin A Deficiency 2 |
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Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... |
OMIM:609529 |
Immunodeficiency 24 |
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Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Immunodeficiency 89 And Autoimmunity |
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Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... |
OMIM:619632 |
Aicardi-Goutieres Syndrome 7 |
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Atopic dermatitis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Increased circulating antibody... |
OMIM:615846 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Erythroderma, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte... |
ORPHA:169154 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor |
ORPHA:46532 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Celiac disease, Decreased circulating total I... |
OMIM:618969 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... |
OMIM:618394 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
ORPHA:3261 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia |
OMIM:212050 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis |
OMIM:619398 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... |
OMIM:613496 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Autoimmunity, Inflammation of the large intestine, Lymphadenopathy, Decreased circul... |
ORPHA:2442 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iro... |
OMIM:616860 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Antinuclear antibody p... |
OMIM:617388 |
Boutonneuse Fever |
|
Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Increased circulating IgG level, Vasc... |
ORPHA:83313 |
Igg4-Related Aortitis |
|
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Autoimmunit... |
ORPHA:449400 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Gastrointestinal he... |
ORPHA:2137 |
Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... |
ORPHA:482 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... |
OMIM:607594 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed ... |
OMIM:617241 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Thrombocytosis, Telangiectasia, Pustule, Leukopenia, Myositis, Increased circulating IgA level, P... |
OMIM:615934 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Anal canal squamous carcin... |
ORPHA:217390 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Infectious encephalitis, Colitis, Decreased proportion of c... |
OMIM:616098 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis |
OMIM:314000 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Neutropenia, Villous atrophy, Eryth... |
OMIM:304790 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... |
OMIM:616050 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... |
OMIM:300400 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:607271 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Abnormality of cytokine secretion, Cholelithiasi... |
ORPHA:567983 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... |
OMIM:603552 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
Pgm3-Cdg |
|
Lactose intolerance, Autoimmunity, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil... |
ORPHA:443811 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Stomatitis, Decreased circulating IgA level, Chronic hepatitis, Impair... |
OMIM:308230 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Bence Jones Proteinuria, Anemi... |
ORPHA:100024 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... |
OMIM:618108 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... |
OMIM:617765 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Villous atrophy, Erythroder... |
OMIM:606367 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... |
ORPHA:169079 |
Immunodeficiency 76 |
|
B lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphopenia, T l... |
OMIM:619164 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... |
OMIM:102700 |
Simple Cryoglobulinemia |
|
Rheumatoid factor positive, Raynaud phenomenon, Mesangial hypercellularity, Gastrointestinal hemo... |
ORPHA:91139 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased circulatin... |
ORPHA:158061 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ... |
OMIM:608106 |
Masp2 Deficiency |
|
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Tube feeding, Erythroderma, Villous atrophy, Vomiting, Decreased circulating IgA level, O... |
OMIM:619510 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Helicobacter pylori infection, Monocytosis, Increased circulating IgM level, Lymphop... |
ORPHA:2688 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circula... |
OMIM:615285 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Jaundice, Absent tonsils, Lymph node hypoplasia, Re... |
ORPHA:276 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Hepatomegaly, Autoimmunity, Impaired T cell function, Decreased circulating IgA l... |
OMIM:240500 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Sinusitis, Decreased specific antibody response to polysacc... |
ORPHA:70593 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
C3 Glomerulopathy |
|
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ... |
ORPHA:329918 |
Q Fever |
|
Myocarditis, Thrombocytopenia, Lymphadenopathy, Hepatitis, Rheumatoid factor positive, Splenomega... |
ORPHA:781 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Pneumonia, Bronchiectasis, Lymphadenopathy, Chronic otitis media, ... |
ORPHA:1572 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... |
OMIM:267700 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Acne, Decreased circulatin... |
OMIM:300635 |
Immunodeficiency 48 |
|
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, L... |
OMIM:616100 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib... |
ORPHA:555905 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volum... |
OMIM:615234 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... |
OMIM:613101 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Ileal ulcer, Lupus anticoagulant, Thrombocytop... |
OMIM:616744 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... |
OMIM:615631 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level |
OMIM:206200 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased glucose-6-p... |
OMIM:300908 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Immunodeficiency 52 |
|
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... |
OMIM:617514 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Myocardial infarction, Giant ... |
OMIM:155100 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Pancreatitis, Hepatic steatosis, Microcytic anemia, Hypoalb... |
OMIM:618805 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I, Membranoprolifer... |
OMIM:613652 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, High palate, Chronic mucocutaneous candidiasis, Increased circulating IgE ... |
OMIM:147060 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... |
OMIM:300853 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Autoimmunity, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis... |
ORPHA:331206 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Macroglossia, Recurrent otitis media, Keratitis, Increased circulating Ig... |
OMIM:618523 |
Sebastian syndrome |
|
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Giant platelets, Thrombocytop... |
OMIM:605249 |
Immunodeficiency 23 |
|
Eczema, High palate, Neutropenia, Allergic rhinitis, Bronchiectasis, Aortic root aneurysm, Absces... |
OMIM:615816 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Monocytosis, Lymphadenopathy, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegal... |
OMIM:619644 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Left superior vena cava draining directly to the left atrium, Elevated circulating alanine aminot... |
OMIM:613759 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hyp... |
OMIM:616871 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Abnormal intestine morphology, Eczema,... |
ORPHA:37042 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Ascites, Anemia, Steatorrhea, Hypoalbuminemia, Eosinophilia, Elevated circulating C... |
ORPHA:2070 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Dilated cardiomyopathy, Eczema, Esophageal varix, Lymphadenopathy, Decreased circulating antibody... |
OMIM:615688 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Hyperbilirubinemia, Nodular regenerative h... |
ORPHA:64743 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... |
ORPHA:86841 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Spl... |
ORPHA:731 |
Malaria |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia |
ORPHA:673 |
Hyper-Igd Syndrome |
|
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic oral candi... |
OMIM:260920 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interlobular bile... |
ORPHA:562639 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, Diarrhea, T lymp... |
OMIM:601457 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Bone marrow hyp... |
ORPHA:86839 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Recurre... |
OMIM:601495 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Membranoprolifer... |
OMIM:613779 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Arthritis, Intestina... |
ORPHA:343 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets |
OMIM:137560 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
Thymoma |
|
Autoimmunity, Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Anti-acetylchol... |
ORPHA:99867 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Abscess, Hepatic cysts... |
ORPHA:400 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Melena, Anis... |
ORPHA:98870 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Increased total... |
OMIM:603553 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Lymphadenopathy, Rheumatoid factor positive, Chronic kidney disease... |
ORPHA:449395 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Leukocytosis, Autoimmunity, Increased circulating IgE level, Hypereosinophilia... |
ORPHA:2902 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... |
OMIM:600903 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Shock, Hypoproteinemia, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Ascites, Anemia, Cholestasis, Hypoalbuminemia, Thrombocytopenia |
OMIM:608104 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Normocytic anemia, Cryoglobulinemia, Leukemia, Monoclonal immunoglobulin M proteine... |
ORPHA:33226 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Lymphadenopathy, Abnormal renal physiology, Decreased circulating antibody level, Sp... |
ORPHA:540 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Spontaneous, recurrent epistaxis, My... |
ORPHA:182050 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Gastrointestinal infarctio... |
ORPHA:91138 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Decrea... |
ORPHA:169160 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... |
ORPHA:398063 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pyloric stenosis, B lymphocytopenia, Hepatomegaly, Cleft palate, Pancreatic hypoplasia, Eczema, S... |
ORPHA:83617 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Focal segmental glomerulosclerosis, Renal tubular atro... |
OMIM:617303 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... |
OMIM:618261 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Netherton Syndrome |
|
Abnormal intestine morphology, Allergic rhinitis, Villous atrophy, Erythroderma, Decreased circul... |
OMIM:256500 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... |
ORPHA:100025 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme... |
ORPHA:567544 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Congenital Enterovirus Infection |
|
Fetal ascites, Leukocytosis, Myocarditis, Neutropenia, Leukopenia, Hepatitis, Anemia, Cardiomyopa... |
ORPHA:292 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal salivary gland morphology, Cholangitis, Autoimmunity, Prostatitis, Lymphadenopathy, Xero... |
ORPHA:449432 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Inflammation of the large intestine, ... |
OMIM:301000 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Lymphadenopat... |
OMIM:605258 |
Slc35A1-Cdg |
|
Neutropenia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia |
ORPHA:238459 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Ascites, Depletion of mitochondrial DNA in l... |
OMIM:251880 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency 15A |
|
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... |
OMIM:618204 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:618963 |
Immunodeficiency 47 |
|
Decreased circulating antibody level, Splenomegaly, Accessory spleen, Decreased circulating total... |
OMIM:300972 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, System... |
ORPHA:90280 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... |
ORPHA:71275 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Autoimmunity, Hepatic fibrosis, Hepatocellular carcino... |
ORPHA:186 |
Fechtner syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:153640 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Macroglossia, Malabsorptio... |
OMIM:242860 |
Bernard-Soulier Syndrome |
|
Epistaxis, Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Giant p... |
OMIM:231200 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Failure to thrive, Antineutrophil antibody positivity, Iron deficiency anemia, Card... |
ORPHA:99931 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Abnormality of iron homeostasis, Anemia, Splenomegaly |
ORPHA:75563 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... |
OMIM:614700 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Autoimmunity, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:613011 |
Multiple Myeloma |
|
Nephrotic syndrome, Increased circulating IgA level, Lymphadenopathy, Weight loss, Decreased circ... |
ORPHA:29073 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, ... |
ORPHA:158057 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Ca... |
OMIM:613313 |
Brucellosis |
|
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, ... |
ORPHA:1304 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Nephrotic Syndrome, Type 14 |
|
Hypoalbuminemia, Hypoglycemia, Lymphopenia, Hypertriglyceridemia |
OMIM:617575 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Hemolytic anemia, Arrhythmia, Elevated creatine kinase after exercise |
ORPHA:57 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Lymphadenopathy, Systemic lupus erythematosus, Hepatitis, Recurrent otitis media, S... |
ORPHA:444463 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Anemia, Ab... |
ORPHA:848 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Abnormality of complement system, Hematuria, Decreased serum c... |
ORPHA:2134 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin satur... |
OMIM:606069 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Autoimmunity, Neutropen... |
ORPHA:1830 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... |
OMIM:312863 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Leukopenia, Systemic lupus erythematosus, Nephritis, Arthritis, Ma... |
OMIM:152700 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Neutropenia, Infectious encephalitis, Pneumonia, Bronchiectas... |
ORPHA:1163 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hepatic f... |
ORPHA:231226 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hypoproteinemia, Hepatomegaly, Ascites, Budd-Chiari syndrome, Iron deficiency ane... |
OMIM:226300 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Complement Component 4A Deficiency |
|
Decreased serum complement C4, Reduced hemolytic complement activity, Glomerulonephritis, Systemi... |
OMIM:614380 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Decreased circulating IgG level, Malabsorption, Lymphopenia |
OMIM:152800 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Primary Sclerosing Cholangitis |
|
Autoimmunity, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatospl... |
ORPHA:171 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Ascites, Abnormal lymphatic vessel morphology, Anemia, Hypocalcemia, Reduced pro... |
ORPHA:90362 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:608885 |
Immunoglobulin A Deficiency 1 |
|
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... |
OMIM:137100 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Increased circulating IgG level |
ORPHA:206594 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Neutropenia, Ascites, Iron deficiency anemia, Hyperbilirubinemia, Hyp... |
ORPHA:1667 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Raynaud phenomenon, Vascular dilatation, Inflammatory abnormality of ... |
ORPHA:48435 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Acquired Partial Lipodystrophy |
|
Autoimmunity, Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Decreased serum complement... |
ORPHA:79087 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating Ig... |
ORPHA:275 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Leukocytosis, Cachexia, Hepatomegaly, Abnormal inflammatory... |
ORPHA:77297 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Mitral regurgitation, Hypoplasia of the thymu... |
OMIM:612541 |
Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Abnormality of body weight, Enlarged ovaries, Decreased body weight, Enlarged polyc... |
ORPHA:2298 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Insulin Autoimmune Syndrome |
|
Autoimmunity, Arthralgia/arthritis, Weight loss, Systemic lupus erythematosus, Autoimmune antibod... |
ORPHA:411593 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cardiomyopathy, Cirrh... |
OMIM:604250 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Esophageal stenosi... |
OMIM:615190 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:614480 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:517 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Spl... |
OMIM:613673 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cell funct... |
OMIM:613179 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Weight loss, Splenomegaly |
ORPHA:52416 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Decreased circulating antibod... |
ORPHA:289390 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis, Celiac disease |
OMIM:618985 |
Fanconi Anemia, Complementation Group V |
|
Neutropenia, Anemia, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Thrombocytopenia |
OMIM:617243 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Autoimmunity, Glomerulopathy, Episcleritis, Ascites, Lymphadenopathy, Hematuria, Ar... |
ORPHA:36412 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoproteinemia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anem... |
OMIM:603554 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... |
OMIM:607616 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Ascites, Cirrhosis, Cholestasis, Hypoalbuminemia,... |
OMIM:617156 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... |
OMIM:237800 |
Tularemia |
|
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Tac... |
ORPHA:3392 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Lysosomal Acid Lipase Deficiency |
|
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steato... |
OMIM:278000 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Autoimmunity, Interstitial pneumonitis, Neutropenia in presence of anti-neutro... |
ORPHA:231154 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Reticular Dysgenesis |
|
Leukopenia, Failure to thrive, Chronic otitis media, Weight loss, Decreased circulating antibody ... |
ORPHA:33355 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Hypertension |
OMIM:189800 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyt... |
OMIM:615122 |
Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... |
OMIM:169400 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Gastrointestinal hemorr... |
ORPHA:247598 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Coccidioidomycosis |
|
Lymphadenopathy, Vasospasm, Cerebral ischemia, Vasculitis, Eosinophilia, Morbilliform rash, Abnor... |
ORPHA:228123 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Skin rash |
OMIM:618048 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus |
OMIM:614420 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Antinuclear antibody positivity |
OMIM:613495 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Decreased serum creatinine, Myocardial infarction, Reticulocyt... |
ORPHA:54057 |
Syndromic Diarrhea |
|
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Villous atrophy, Hepatic fibrosis, ... |
ORPHA:84064 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Hypertension |
OMIM:166990 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic... |
ORPHA:90044 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ... |
ORPHA:79078 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Increased mean platelet volume, Stomatocytosis, Epistaxis, Splenomegaly, Hemolytic anemia |
OMIM:153670 |
Congenital Disorder Of Glycosylation, Type Iir |
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Hypospadias, Hepatomegaly, Ascites, Decreased circulating antibody level, Micronodular cirrhosis,... |
OMIM:301045 |
Agammaglobulinemia 3, Autosomal Recessive |
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Diarrhea, Agammaglobulinemia, Recurrent otitis media, Neutropenia |
OMIM:613501 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Breath-Holding Spells |
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Iron deficiency anemia, Pallor |
OMIM:607578 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Increased circulating IgE level |
ORPHA:1858 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... |
OMIM:616959 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Tubulointerstitial Nephritis With Uveitis |
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Reversible renal failure, Circulating immune complexes, Anterior uveitis, Panuveitis, Uveitis, Gl... |
OMIM:607665 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
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Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Refractory Anemia |
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Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... |
ORPHA:98826 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
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Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
Amoebiasis Due To Entamoeba Histolytica |
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Leukocytosis, Constrictive pericarditis, Lung abscess, Anemia, Congestive heart failure, Hypoalbu... |
ORPHA:67 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Whim Syndrome 1 |
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Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia, Bronchiectasis |
OMIM:193670 |
Nephrotic Syndrome, Type 2 |
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Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Diffuse Neonatal Hemangiomatosis |
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Hypercalcemia, Hepatomegaly, Ascites, Anemia, Thrombocytopenia |
ORPHA:2123 |
Sickle Cell Anemia |
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Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Chylomicron Retention Disease |
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Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... |
OMIM:246700 |
Transaldolase Deficiency |
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Abnormal circulating glutamine concentration, Telangiectasia, Anemia, Cirrhosis, Hepatosplenomega... |
ORPHA:101028 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Diffuse Alveolar Hemorrhage |
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Autoimmunity, Leukocytosis, Antineutrophil antibody positivity, Weight loss, Hematuria, Anemia, R... |
ORPHA:90060 |
Congenital Disorder Of Glycosylation, Type Iik |
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Elevated circulating creatine kinase concentration, Thrombocytopenia, Hepatomegaly |
OMIM:614727 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Prolidase Deficiency |
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Hepatomegaly, Diffuse telangiectasia, High palate, Eczema, Systemic lupus erythematosus, Anemia, ... |
OMIM:170100 |
Beemer Lethal Malformation Syndrome |
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Thrombocytopenia |
OMIM:209970 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Splenomegaly, Th... |
ORPHA:79312 |
Immunodeficiency 36 |
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Chronic lymphatic leukemia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, S... |
OMIM:616005 |
Bare Lymphocyte Syndrome, Type Ii |
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Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutropenia, Villous atrophy, Protracte... |
OMIM:209920 |
Autosomal Dominant Hyper-Ige Syndrome |
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Eczema, Cleft palate, Chronic otitis media, Osteomyelitis, Increased circulating IgE level, Vascu... |
ORPHA:2314 |
Hepatocellular Carcinoma |
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Hypoglycemia, Hemobilia, Abnormality of the hepatic vasculature, Portal hypertension, Liver absce... |
ORPHA:88673 |
Trichohepatoenteric Syndrome 1 |
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Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... |
OMIM:222470 |
Immunodeficiency 81 |
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Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... |
OMIM:604416 |
Ménétrier Disease |
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Hypoproteinemia, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Chronic ... |
ORPHA:911 |
Nephrotic Syndrome, Type 23 |
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Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Syncope, Lymphadenopat... |
ORPHA:98849 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Selective Igm Deficiency |
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Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Ly... |
ORPHA:331235 |
Primary Membranoproliferative Glomerulonephritis |
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C3 nephritic factor positivity, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insuffi... |
ORPHA:54370 |
Anti-Glomerular Basement Membrane Disease |
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Autoimmunity, Hematuria, Anemia, Arthritis, Vasculitis, Glomerulopathy, Proteinuria, Renal insuff... |
ORPHA:375 |
Preeclampsia |
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Hypertension, Elevated diastolic blood pressure, Elevated circulating creatinine concentration, E... |
ORPHA:275555 |
Primary Myelofibrosis |
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Leukocytosis, Cachexia, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepa... |
ORPHA:824 |
Tempi Syndrome |
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Telangiectasia, Intracranial hemorrhage, Ascites, Polycythemia, Increased circulating IgG level, ... |
ORPHA:284227 |
Lysinuric Protein Intolerance |
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Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... |
ORPHA:470 |
Avian Influenza |
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Leukopenia, Elevated circulating creatine kinase concentration, Hepatitis, Lymphopenia, Congestiv... |
ORPHA:454836 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Leukocytosis, Thrombocytosis, Bloody diarrhea, Defective T cell proliferation, Increased circulat... |
OMIM:618213 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Igg4-Related Ophthalmic Disease |
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Sinusitis, Cholangitis, Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Retr... |
ORPHA:449563 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
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Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
Bilateral Striopallidodentate Calcinosis |
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Abnormality of the liver, Thrombocytopenia, Hepatomegaly |
ORPHA:1980 |
Hyperlipoproteinemia, Type Id |
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Colitis, Splenomegaly |
OMIM:615947 |
Rhabdoid Tumor |
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Hypercalcemia, Hypertension, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia, In... |
ORPHA:69077 |
Chronic Bilirubin Encephalopathy |
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Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hemolyt... |
ORPHA:529808 |
Heme Oxygenase 1 Deficiency |
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Thrombocytosis, Hepatomegaly, Increased circulating interleukin 6, Asplenia, Lymphadenopathy, Coo... |
OMIM:614034 |
Acute Bilirubin Encephalopathy |
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Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hemolyt... |
ORPHA:529799 |
Macrocephaly/Autism Syndrome |
|