Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... |
OMIM:618944 |
Caspase 8 Deficiency |
|
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced ly... |
OMIM:607271 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections |
OMIM:615206 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... |
OMIM:613494 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Hepatomegaly, Chronic oral candidiasis, Skin rash, Decreased cir... |
OMIM:300400 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... |
OMIM:300635 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... |
OMIM:613500 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Decreased circulating IgA level, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... |
OMIM:618987 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... |
OMIM:247800 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Absent isohemagglutinin level, Elevated circulating C-reactive protein concentratio... |
OMIM:615559 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decre... |
OMIM:618394 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Decreased circulatin... |
OMIM:616100 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Hepatos... |
OMIM:619924 |
Immunodeficiency 64 |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphadenopathy, Anti-... |
OMIM:618534 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Bronchiectasis, Decreased circulating total IgM, Recurrent upper respiratory tract infections, Re... |
OMIM:615139 |
Cirrhosis, Familial |
|
Cirrhosis, Hepatitis, Chronic active hepatitis, Increased circulating antibody level |
OMIM:118900 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... |
OMIM:617006 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Rheumatoid factor positive, Lymphadenopathy, Nephrotic syndrome, Smooth muscle anti... |
OMIM:603909 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... |
OMIM:240500 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence o... |
OMIM:269840 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia |
OMIM:242880 |
Autoimmune Hepatitis |
|
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc... |
ORPHA:2137 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... |
OMIM:619802 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... |
OMIM:616636 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... |
OMIM:300988 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... |
OMIM:618969 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... |
ORPHA:158061 |
Immunodeficiency 52 |
|
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... |
OMIM:617514 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169160 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ... |
ORPHA:331206 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... |
ORPHA:277 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG, Recurrent respiratory i... |
OMIM:613495 |
Immunodeficiency, Common Variable, 10 |
|
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t... |
OMIM:615577 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... |
OMIM:209950 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... |
OMIM:300853 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Neutropenia, Agammaglobulinemia, Recurrent respirat... |
OMIM:613501 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Recurrent bronchitis, Autoimmunity |
OMIM:216950 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... |
OMIM:308230 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Asthma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent ... |
OMIM:619752 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... |
OMIM:312863 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... |
ORPHA:183675 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... |
OMIM:613496 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... |
OMIM:601859 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology, Recurrent sinopulmonary infectio... |
OMIM:609529 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
B lymphocytopenia, Thrombocytopenia, Decreased specific antibody response to vaccination, Uveitis... |
OMIM:614700 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 95 |
|
Respiratory distress, Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respir... |
OMIM:619773 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... |
OMIM:102700 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... |
ORPHA:444463 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Rheumatoid factor positive,... |
ORPHA:3261 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Increased proportion of gamma... |
OMIM:619774 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Eosinophilic infiltration of the esophagus, Eczema, Atopic dermatitis, Eosinophilia, Decr... |
OMIM:243700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Decreased circulating antibody level, Pneumonia |
OMIM:614069 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n... |
OMIM:613101 |
Immunodeficiency 89 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, Reduced circul... |
OMIM:619632 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:605258 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... |
ORPHA:2442 |
Immunodeficiency 61 |
|
Arthritis, Recurrent sinusitis, Recurrent otitis media, Agammaglobulinemia, Recurrent respiratory... |
OMIM:300310 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin |
OMIM:235900 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Selective Igm Deficiency |
|
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... |
ORPHA:331235 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Hypocalcemia, Skin rash, Chronic otitis media, Abnormality of the lymph... |
ORPHA:47 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Chronic hepatitis due to cryptosporidium infection, Panhypogammaglobulinemia, Pancytopenia, Rhini... |
ORPHA:572 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgE, Decrease... |
OMIM:619510 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Rheumatoid factor positive, Hematuri... |
ORPHA:781 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Recurrent urinary tract infection... |
OMIM:618495 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Panuveitis, Osteomyelitis, Optic neuritis, Decreased circulating IgG level, Hepatosplenomegaly, D... |
OMIM:301081 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Recurrent otitis media, Decreased proportion of CD3-... |
OMIM:615615 |
Complement Component C1S Deficiency |
|
Systemic lupus erythematosus, Hepatitis, Abnormality of complement system, Hashimoto thyroiditis |
OMIM:613783 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Eczema, Decreased prealbumin level, Anti-thyroid peroxidase anti... |
ORPHA:37042 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosis, Hepatic fa... |
OMIM:308240 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... |
OMIM:619705 |
Immune Deficiency Disease |
|
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eczema, Eosinophilia, Glomerulonephritis, Autoimmune thrombocyt... |
OMIM:304790 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... |
OMIM:618048 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
OMIM:251190 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Asthma, Sinusitis, Recurrent upper and low... |
ORPHA:70593 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity, Recurrent respiratory infections |
OMIM:137100 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... |
ORPHA:329918 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... |
OMIM:300755 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Rec... |
OMIM:616576 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... |
ORPHA:33110 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... |
OMIM:614470 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Increased circu... |
OMIM:610163 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Chilblain Lupus |
|
Discoid lupus rash, Increased circulating antibody level, Inflammatory abnormality of the skin, A... |
ORPHA:90280 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media |
OMIM:616941 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, B lymphocytopenia, Arthritis, T lymphocytopenia, Panhypogammaglo... |
OMIM:601457 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Cholestasis, Antimitochondrial antibody ... |
ORPHA:562639 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
OMIM:614034 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency 56 |
|
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Panhypogammaglobu... |
OMIM:615207 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... |
ORPHA:411593 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Acute otitis media, Decreased lymphocyte proliferation in response to mitogen, Lack of T cell fun... |
ORPHA:35078 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... |
OMIM:193670 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity |
OMIM:182410 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Recurrent sinopulmonary infections, Absent specific antibody response, Follicular hy... |
OMIM:619846 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Autoimmu... |
ORPHA:169079 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Decreased circulating IgG level, Elev... |
OMIM:613011 |
Bare Lymphocyte Syndrome, Type Ii |
|
Colitis, Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent urinary tract i... |
OMIM:209920 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Hypospadias, Elevated hepatic tra... |
OMIM:301045 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Complement deficiency... |
ORPHA:91139 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... |
OMIM:616005 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... |
ORPHA:540 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... |
OMIM:617780 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... |
OMIM:600903 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Desquama... |
OMIM:615952 |
Aspergillosis |
|
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron... |
ORPHA:1163 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Thrombocytopeni... |
ORPHA:381 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Elevated circulating alkaline phosphatase concentration, Abnorma... |
ORPHA:186 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ... |
OMIM:615767 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Iridocyclitis, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, A... |
ORPHA:227990 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level, Respiratory tract infection |
OMIM:615592 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... |
ORPHA:100024 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestine, T lymphocytopeni... |
OMIM:618108 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... |
OMIM:615122 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Recurrent skin infections, Decreased serum creatinine, Recurrent... |
OMIM:617744 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Bronchiolitis obliterans, Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive ... |
OMIM:617241 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Asthma, Elevated circulating C-reactive protein concentrati... |
ORPHA:449400 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe... |
ORPHA:420741 |
Tularemia |
|
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med... |
ORPHA:3392 |
Reticular Dysgenesis |
|
Skin rash, Leukopenia, Chronic otitis media, Abnormality of neutrophils, Decreased circulating an... |
ORPHA:33355 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... |
OMIM:153600 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... |
OMIM:616098 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocyt... |
ORPHA:217390 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG leve... |
ORPHA:90362 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Elevated circulating C-reactiv... |
ORPHA:829 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM level, ... |
ORPHA:37748 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Iridocyclitis, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, A... |
ORPHA:227982 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Chronic ... |
ORPHA:275 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Ne... |
OMIM:616740 |
Thymoma |
|
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anem... |
ORPHA:99867 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Reduced forced expiratory volume in one second, Decreased circulating IgA level, Hepatomegaly, Sp... |
OMIM:613385 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased circulating I... |
ORPHA:276 |
Postinfectious Vasculitis |
|
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... |
ORPHA:48435 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Ascites |
ORPHA:100025 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... |
OMIM:300972 |
Lambert Syndrome |
|
Intrahepatic biliary atresia, Hypospadias, Cholestasis, Decreased circulating antibody level, Jau... |
ORPHA:1296 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Nephritis |
OMIM:614420 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Nephrotic syndrome, Hepatomegaly, Nephritis, Recurrent bronchopulmonary inf... |
OMIM:617303 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... |
OMIM:618986 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Enterocolitis, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymp... |
OMIM:243150 |
X-Linked Immunoneurologic Disorder |
|
Functional abnormality of the bladder, Decreased circulating IgG2 level, Recurrent respiratory in... |
ORPHA:2571 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... |
OMIM:613179 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... |
OMIM:618116 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Increased circulating antibody level, Cirrhosis, Cough, Decreased DLCO, ... |
OMIM:178500 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Abnorm... |
OMIM:619652 |
Thymic Tumor |
|
Mediastinal lymphadenopathy, Neoplasm of the thymus, Cough, Autoimmunity, Dysgammaglobulinemia, D... |
ORPHA:100100 |
Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Hemol... |
ORPHA:1572 |
Legionnaires Disease |
|
Pancreatitis, Hematuria, Myocarditis, Abnormal pleura morphology, Proteinuria, Bone marrow hypoce... |
ORPHA:549 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
Wiskott-Aldrich Syndrome |
|
Eczema, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... |
OMIM:301000 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:275350 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Systemic lupus erythematosus, Recurrent tonsillitis, Decreased serum compleme... |
OMIM:613779 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, D... |
OMIM:618042 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Dec... |
OMIM:612301 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... |
ORPHA:171 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Recurrent upper respirat... |
OMIM:600802 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Decreased serum complement C4, Hematuria, Proteinuria, Microangiopathic hemol... |
ORPHA:93552 |
Systemic Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Antinu... |
OMIM:152700 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... |
ORPHA:90003 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis... |
ORPHA:83471 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... |
ORPHA:2902 |
Boutonneuse Fever |
|
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I... |
ORPHA:83313 |
Prolidase Deficiency |
|
Increased circulating antibody level, Asthma, Systemic lupus erythematosus, Hepatomegaly, Splenom... |
OMIM:170100 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Otitis media, Aplasia of the thymus, Eosinophilia, Abnor... |
OMIM:602450 |
Immunodeficiency 104 |
|
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... |
OMIM:608971 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pulmonary hemorrhage, Absence of lymph node germinal center, Panhypogammaglobulinem... |
ORPHA:79124 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Neutropenia, Hepatomegaly, Chronic oral candidiasis, Hemophagocytosis, Splenomegaly, Decreased ci... |
OMIM:301078 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Pneumonia, D... |
OMIM:619381 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Asthma, Elevated circulating C-reactive protein concentration, Elevated circulating amyloid A, He... |
OMIM:619750 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Absence... |
OMIM:608184 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Reduced circulating transferrin concentration, Cirr... |
ORPHA:90363 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Recurrent urinary tract infections, Panh... |
OMIM:307200 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... |
OMIM:606367 |
Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... |
ORPHA:723 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, Cough, Ac... |
ORPHA:319218 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria |
OMIM:314000 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, Follicular hyp... |
OMIM:615934 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... |
ORPHA:449395 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Decreased circulating IgG2 level |
OMIM:300076 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Glycosuria, Proteinuria, Pneumonia, Enlarged polyc... |
ORPHA:2298 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Decreased s... |
OMIM:613652 |
Avian Influenza |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumothorax, Pneumo... |
ORPHA:454836 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... |
ORPHA:507 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169154 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Anemia, Recurrent u... |
ORPHA:169105 |
Complement Component 4B Deficiency |
|
Asthma, Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent ... |
OMIM:614379 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Increased circulating IgA level, Elevated circulating C-reactive protein concentrat... |
OMIM:617388 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Hepatitis, Abnormal abdomen morphology |
OMIM:219400 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Decreased circulating antibody level, Pure red cell aplasia |
OMIM:618165 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Decreased circulating IgA level, Hepatomegaly, Decreased circulating... |
ORPHA:79330 |
Immunodeficiency 58 |
|
Eczema, Decreased specific antibody response to vaccination, Colitis, Chronic bronchitis, Esophag... |
OMIM:618131 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level, Hypospadias |
OMIM:616910 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... |
OMIM:241600 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Nephrotic syndrome, Proteinuria, Macronodular cirrhosis, Mucopol... |
OMIM:215250 |
Roifman Syndrome |
|
Eosinophilia, Eczema, Hepatosplenomegaly, Decreased circulating antibody level, Recurrent pneumon... |
ORPHA:353298 |
Bloom Syndrome |
|
Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, Uveitis, Pneumonia, Rhiniti... |
ORPHA:125 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Eczema, Asthma, Increased circulating IgE level |
OMIM:147050 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Rheumatoid arthritis... |
ORPHA:48377 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Decreased hepcidin level, Increased serum iron, Por... |
ORPHA:101330 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Eczema, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertension, Hepat... |
ORPHA:391487 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Exocrine pancreatic insufficiency, Acute respiratory distress syndrome, Elevated circulating alka... |
OMIM:620005 |
Primary Sjögren Syndrome |
|
Airway obstruction, Chronic active hepatitis, Complement deficiency, Decreased serum complement C... |
ORPHA:289390 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Pancreatitis, Nephritis, Elevated circulating C-reactive protein concentration, Comple... |
ORPHA:449427 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Eczema, Eosinophilia, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... |
OMIM:618523 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... |
ORPHA:443811 |
Brucellosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, ... |
ORPHA:1304 |
Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... |
OMIM:613490 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Decreased circulating IgA level, Chronic bronchitis, T lymphocytopenia, Increased circ... |
OMIM:242860 |
Immunodeficiency 23 |
|
Asthma, Lymphopenia, Eczema, Membranoproliferative glomerulonephritis, Eosinophilia, Increased ci... |
OMIM:615816 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis |
ORPHA:930 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Decreased circulating antibody level, Pulmonary ... |
ORPHA:586 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Sept... |
ORPHA:36234 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... |
OMIM:619375 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C... |
ORPHA:911 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Decreased circulating IgG level, Hyperbilirubinem... |
OMIM:613070 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Decre... |
ORPHA:470 |
Netherton Syndrome |
|
Asthma, Aminoaciduria, Skin rash, Eczema, Decreased circulating antibody level, Ectopic kidney, H... |
ORPHA:634 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Increased circulating antibody level, Nephrotic syn... |
OMIM:615846 |
Masp2 Deficiency |
|
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis, Decrea... |
OMIM:226300 |
Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice |
ORPHA:60 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positivity, Acute he... |
ORPHA:228426 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Elevated circulating alkalin... |
OMIM:614576 |
Rift Valley Fever |
|
Skin rash, Increased circulating IgG level, Hematuria, Elevated hepatic transaminase, Hepatitis, ... |
ORPHA:319251 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Cystic Echinococcosis |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Multiple pulmonary cysts, ... |
ORPHA:400 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea... |
OMIM:210900 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Pulmonary hemo... |
OMIM:616414 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis |
OMIM:607624 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Ataxia-Telangiectasia |
|
Lymphopenia, Elevated hepatic transaminase, Decreased circulating antibody level, Aplasia/Hypopla... |
ORPHA:100 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Abnormality of the lymphatic system, Abnormal lymphocyte morp... |
ORPHA:229717 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Nephrotic syndrome, Pustule, Skin rash, Lymphocytosis, Acute hepatic failure, Interstitial pneumo... |
ORPHA:139402 |
Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder, Decreased circulating IgA level, Recurrent respiratory inf... |
DECIPHER:45 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Neutropenia, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... |
OMIM:601495 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Diffuse Alveolar Hemorrhage |
|
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Decreased serum complement C4,... |
ORPHA:90060 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Decreased serum complement C3, C3 nephritic factor po... |
ORPHA:54370 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Circulating immune complexes, Splenomegaly, Cryoglobulinemia, Medi... |
ORPHA:91138 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Erythroder... |
ORPHA:3162 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Aminoacidu... |
OMIM:613404 |
Multiple Myeloma |
|
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Nephropathy,... |
ORPHA:29073 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline... |
ORPHA:79303 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis, Agammaglobulinemia, Thr... |
OMIM:619693 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Decreased s... |
ORPHA:231111 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Skin rash, Elevated circulating C-re... |
OMIM:617099 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Elevated circulating creatine kinase concentration, Decreased ci... |
OMIM:602668 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Eczema, Pancytopenia, Bone m... |
OMIM:615688 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa, Recurrent upp... |
OMIM:233600 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Abnor... |
ORPHA:848 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgA level, Anemia, Decreased circulating IgG level, Decreased circulating t... |
OMIM:620040 |
Felty Syndrome |
|
Hepatomegaly, Bone marrow hypocellularity, Pericarditis, Rhinitis, Lymphadenopathy, Splenomegaly,... |
ORPHA:47612 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:611182 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Recurrent aphthous stomatitis, Increased circulating IgM level, Neutrop... |
ORPHA:2688 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Inclusion Body Myositis |
|
Elevated circulating creatine kinase concentration, Autoimmunity |
ORPHA:611 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia |
ORPHA:251009 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Sinusitis, Hepatomegaly, Lymphopenia, Skin rash, Splenomega... |
OMIM:617591 |
Halothane Hepatitis |
|
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Lymphopenia, Decreased c... |
ORPHA:508533 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Apnea, Colitis, Decreased circulating IgG level, Eczema, Inflammation of the l... |
OMIM:608809 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increas... |
OMIM:194380 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level |
OMIM:615190 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level, Recurrent respiratory infections |
ORPHA:1006 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni... |
ORPHA:247598 |
Zika Virus Disease |
|
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Infectious encephalitis, Increased circu... |
ORPHA:448237 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Myeloid leukemia, ... |
ORPHA:48104 |
Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Leukocytosis, Hyperammonemia, Hepatic failure, Leukopenia, Chole... |
ORPHA:292 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Cheilitis, Eosinophilia, Recurrent urinary tract infections, Decreased circ... |
ORPHA:90045 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
Myasthenia Gravis |
|
Systemic lupus erythematosus, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis... |
ORPHA:589 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... |
ORPHA:1303 |
Lassa Fever |
|
Jaundice, Cough, Oliguria, Increased circulating IgM level, Dyspnea, Conjunctivitis |
ORPHA:99824 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
OMIM:617062 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Intrahepa... |
OMIM:208085 |
Spondyloenchondrodysplasia |
|
Chronic kidney disease, Systemic lupus erythematosus, Skin rash, Juvenile rheumatoid arthritis, A... |
ORPHA:1855 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Eczema, Ly... |
OMIM:618935 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating IgA level, Central sleep apnea, Congenital megaureter, Decreased circulatin... |
ORPHA:369837 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Abnormality of the urinary system, Elevated circulating creatine kinase con... |
ORPHA:90117 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatase concentration, Hy... |
ORPHA:39812 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Salmonella osteomyelitis, Lymphadenitis, Abnormal circulating interleukin concentration, Pneumonia |
ORPHA:319552 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA, Antinuclear antibody positivity, Autoimmunity, Anti-dsDNA antibo... |
ORPHA:1929 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Conjunctivitis, Hepatomegaly, Hemophagocytosis, Ski... |
OMIM:603552 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Cirrhosis, Acute hepatic failure, Arthritis, Thrombocytopenia... |
ORPHA:905 |
Complement Factor I Deficiency |
|
Decreased serum complement factor H, Recurrent streptococcus pneumoniae infections, Decreased ser... |
OMIM:610984 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Recurrent upper respiratory tract infections, Autoimmune thrombocytopen... |
ORPHA:293978 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Cirrhosis,... |
OMIM:607765 |
Tn Polyagglutination Syndrome |
|
Autoimmunity, Abnormal erythrocyte morphology |
OMIM:300622 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... |
OMIM:613812 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... |
OMIM:614921 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... |
ORPHA:542323 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Skin rash, Splenomegaly, Juv... |
ORPHA:85414 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... |
OMIM:266265 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Whim Syndrome |
|
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crazy paving pattern, Crackles, Elevated carcinoembryonic antigen level, Ac... |
ORPHA:264675 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency 32B |
|
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections |
OMIM:226990 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Decreased glomerular filtration rate, Renal tubular atrophy, Nephropathy, Gout, Renal ... |
OMIM:162000 |
Iga Pemphigus |
|
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... |
ORPHA:555905 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Decreased serum complement C3, Microscopic hematuria, Autoimmunity, Proteinuria, G... |
ORPHA:79087 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoarthritis, Leuk... |
ORPHA:77259 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Hepatomegaly, Complement deficiency, Hematuria, Uveitis, Proteinuria, Inflamm... |
ORPHA:36412 |
Netherton Syndrome |
|
Asthma, Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Erythroderma, Incr... |
OMIM:256500 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Abnormal pancreas morphology, Prostatitis, Complement defic... |
ORPHA:449432 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Gaucher Disease |
|
Increased circulating antibody level, Osteomyelitis, Hepatomegaly, Elevated circulating C-reactiv... |
ORPHA:355 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Circulating immune complexes, Anterior uveitis, Non-caseating epithelioid cell granul... |
OMIM:607665 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Abnormality of the kidney, Elevat... |
ORPHA:275555 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Thrombocytopenia, Nephritis |
ORPHA:3327 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Rheumatoid arthritis, Abnormal circulating interleukin concentration, Uveitis, Au... |
ORPHA:85410 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Smooth muscle antibody positivity, Nodular pattern on pulmonary HRCT, Hepatosplenom... |
ORPHA:99931 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Increased circulat... |
OMIM:260920 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... |
OMIM:614493 |
Fechtner syndrome |
|
Nephritis, Neutrophil inclusion bodies, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... |
OMIM:153640 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating antibody level, Hepatomegaly, Hypoventilation |
OMIM:606056 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... |
OMIM:277900 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Pyoderma, Aplasia of t... |
OMIM:242700 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Hepatomegaly, Uveitis, Pancytopenia, Increased circulating antibody level, Splenom... |
OMIM:181000 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Elevated hepatic transam... |
OMIM:214950 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Decreased beta-galactosidase activity, Splenomegaly, Hypergalactosem... |
OMIM:230350 |
Melioidosis |
|
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Acute infectious pneumon... |
ORPHA:31202 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, De... |
OMIM:616084 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Lymphopenia, Thrombocytopenia, Pancytopenia, Focal segmental glomeruloscleros... |
OMIM:242900 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Systemic Lupus Erythematosus 17 |
|
Optic neuritis, Lymphopenia, Systemic lupus erythematosus, Decreased serum complement C3, Leukope... |
OMIM:301080 |
Alstrom Syndrome |
|
Asthma, Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Decreased HDL cholestero... |
OMIM:203800 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Decreased serum complement C4, Systemic lupus erythematosus, Reduced hemolyti... |
OMIM:614380 |
Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
Myh9-Related Disease |
|
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... |
ORPHA:182050 |
Ataxia-Telangiectasia |
|
Sinusitis, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Elevate... |
OMIM:208900 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... |
OMIM:618806 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress |
ORPHA:141152 |
Nijmegen Breakage Syndrome |
|
Sinusitis, Otitis media, Recurrent urinary tract infections, B lymphocytopenia, T lymphocytopenia... |
OMIM:251260 |
Neonatal Alloimmune Neutropenia |
|
Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Jaundic... |
ORPHA:464370 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Skin rash, Splenomegaly, Hepatospleno... |
OMIM:618963 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia, Pancreatitis, Lymphopenia, Nephrotic range proteinuria, Impaired T cell function,... |
ORPHA:1830 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Respiratory distress, Hepatomegaly, Micropenis, Eczema, Severe B lymphocytopenia,... |
ORPHA:83617 |
Omenn Syndrome |
|
Hepatomegaly, Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Severe B lym... |
OMIM:603554 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia, Autoimmunity, Dyspnea |
ORPHA:228312 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis, Recurrent respiratory infections |
ORPHA:363523 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia, Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating IgG4 level, Anti... |
ORPHA:64744 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Anticardiolipin IgG a... |
ORPHA:64743 |
Omenn Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... |
ORPHA:39041 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... |
ORPHA:98848 |
Vici Syndrome |
|
Decreased circulating IgG level, Renal tubular acidosis, Decreased circulating IgG2 level, Ureter... |
ORPHA:1493 |
Coccidioidomycosis |
|
Respiratory distress, Pancreatitis, Pneumonia, Pericarditis, Osteomyelitis, Morbilliform rash, Pe... |
ORPHA:228123 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneum... |
ORPHA:2552 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Decreased circulating antibody level, Micropenis |
OMIM:300953 |
Mevalonic Aciduria |
|
Fluctuating hepatomegaly, Elevated circulating C-reactive protein concentration, Skin rash, Fluct... |
OMIM:610377 |
Immunodeficiency 17 |
|
Chronic oral candidiasis, Chronic decreased cirulating IgG2, Eczema, T lymphocytopenia, Decreased... |
OMIM:615607 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... |
OMIM:214900 |
Alveolar Echinococcosis |
|
Abnormality of bladder morphology, Increased circulating antibody level, Decreased liver function... |
ORPHA:284 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia |
OMIM:602079 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Skin rash, Splenome... |
OMIM:603553 |
Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Abnormality of the ... |
ORPHA:284227 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Asthma, Systemic lupus erythematosus, Eczema, Monocytosis, Leukopenia, Refractory anemia, Bone ma... |
OMIM:616871 |
Ciliary Dyskinesia, Primary, 9 |
|
Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis... |
OMIM:612444 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Anti-granulocyte-macrophage colony stimulating factor antibody positivity, Intraalveolar phosphol... |
OMIM:610910 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase... |
OMIM:613327 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:36238 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level, Erythroderma |
OMIM:617425 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... |
ORPHA:79095 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Antinuclear antibody positivity, Myositis, Thrombocytopenia, Inc... |
ORPHA:79078 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgA level, Nephrotic syndrome, Hepatomegaly, Decreased circulating IgG leve... |
OMIM:212065 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Micropenis, Hypospadias, Decreased circulating antibody level, Respiratory tract in... |
OMIM:607143 |
Catastrophic Antiphospholipid Syndrome |
|
Anti-beta 2 glycoprotein I antibody positivity, Antiphospholipid antibody positivity, Systemic lu... |
ORPHA:464343 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Icf Syndrome |
|
Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Recurrent ... |
ORPHA:2268 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia, Agammaglobulinemia |
ORPHA:52368 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Airway obstruction, Nephrotic syndrome, Decreased circulating IgG level, Re... |
ORPHA:505248 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hepatomegaly, Multiple pulmonary cysts, Rheumatoid arthritis, Ecze... |
ORPHA:79128 |
Vici Syndrome |
|
Decreased circulating IgG level, Left ventricular hypertrophy, Penile hypospadias, Decreased T ce... |
OMIM:242840 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Skin rash, Splenomegaly, Leukocytosis, Art... |
OMIM:611762 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P... |
OMIM:105200 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypertriglyceridemia, Decreased circulat... |
OMIM:618183 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Al Amyloidosis |
|
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Elevated circulating alka... |
ORPHA:85443 |
Hereditary Orotic Aciduria |
|
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Impaired T cell function,... |
ORPHA:30 |
Alport Syndrome |
|
Glomerular C3 deposition, Hematuria, Thickened glomerular basement membrane, Proteinuria, Thin gl... |
ORPHA:63 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Autoimmunity, Hyperventilation, Urinary incontinence |
ORPHA:83600 |
Anti-Glomerular Basement Membrane Disease |
|
Respiratory insufficiency, Hematuria, Arthritis, Cough, Autoimmunity, Renal insufficiency, Protei... |
ORPHA:375 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Trichohepatoenteric Syndrome 2 |
|
Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Decreased serum iron |
OMIM:614602 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hypospadias, Abnormality of the pancreas,... |
OMIM:222470 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Hyperornithinemia, Hepatomegaly, Hyperammonemia, Acute hepatitis |
OMIM:238970 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... |
OMIM:618549 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia |
ORPHA:97244 |
Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Elevated circulating cr... |
ORPHA:93126 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elevated cir... |
ORPHA:340 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev... |
ORPHA:567983 |
Popov-Chang syndrome |
|
Decreased circulating antibody level, Lymphopenia, Recurrent otitis media |
OMIM:618428 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... |
OMIM:614480 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... |
OMIM:619658 |
Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Cough, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal in... |
OMIM:619468 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Chro... |
ORPHA:231226 |
Mccune-Albright Syndrome |
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Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemia, Pancreatitis, Cholestasis, ... |
ORPHA:562 |
Hemochromatosis, Type 2A |
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Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Arthritis, I... |
OMIM:602390 |
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