Cirrhosis, Familial |
|
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Decreased serum complement C4b |
OMIM:614379 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... |
OMIM:608106 |
Complement Component C1S Deficiency |
|
Abnormality of complement system, Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
Complement Component C1R/C1S Deficiency |
|
Complement deficiency, Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... |
OMIM:606843 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... |
OMIM:613494 |
Hepatocellular Carcinoma |
|
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma |
OMIM:114550 |
Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency |
OMIM:161900 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Bronchiectasis, Splenomegaly, Increased circulati... |
OMIM:615513 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... |
OMIM:618944 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Bronchiectasis, Recurrent otitis media, Increased circulating IgG level... |
OMIM:619220 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure, Jaundice |
ORPHA:60 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Immunodeficiency 25 |
|
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating... |
OMIM:300635 |
Immunodeficiency, Common Variable, 3 |
|
Reduced isohemagglutinin level, Decreased circulating IgA level, Recurrent otitis media, Decrease... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Stomatitis, Decreased circulating IgA level, Impaired memory B cell generation, Dec... |
OMIM:308230 |
Cyanosis And Hepatic Disease |
|
Hepatitis |
OMIM:219400 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Glomerulonephritis, Pneumonia |
OMIM:247800 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulatin... |
OMIM:308240 |
Halothane Hepatitis |
|
Viral hepatitis, Hepatitis, Jaundice |
OMIM:234350 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Gout, Nephropathy, Renal insufficiency |
OMIM:162000 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level |
OMIM:162700 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Hepati... |
ORPHA:169160 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... |
OMIM:617765 |
Immunodeficiency 64 |
|
Defective T cell proliferation, Bronchiectasis, Increased circulating IgA level, Decreased circul... |
OMIM:618534 |
Immune Deficiency Disease |
|
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM |
OMIM:242850 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... |
OMIM:607271 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Reduced natural kil... |
OMIM:300400 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Glomerulonephritis, Hematuria |
OMIM:314000 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... |
OMIM:617241 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infections, Increased... |
OMIM:618495 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Eczema, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 27A |
|
Pneumonia, Salmonella osteomyelitis, Increased circulating IgG level, Splenomegaly, Increased inf... |
OMIM:209950 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent pneumonia |
OMIM:613500 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Schnitzler Syndrome |
|
Hepatomegaly, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash |
ORPHA:37748 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... |
ORPHA:2137 |
Immunodeficiency 56 |
|
Cholangitis, Bronchiectasis, Recurrent otitis media, Cirrhosis, Panhypogammaglobulinemia, Recurre... |
OMIM:615207 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Nephrotic syndrome, Monoclonal immunoglobulin M proteinemia, Nephr... |
ORPHA:91139 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Decreased circulating IgA level, Bronchiectasi... |
OMIM:607594 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased specific antibody res... |
OMIM:616452 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Elevated circulating alkaline p... |
OMIM:613812 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... |
ORPHA:562639 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Splenomegaly |
ORPHA:444463 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Nephrotic synd... |
OMIM:617006 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme... |
ORPHA:567544 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgG le... |
OMIM:618982 |
Complement Factor I Deficiency |
|
Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Decreased... |
OMIM:610984 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... |
OMIM:618969 |
Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema, Skin r... |
ORPHA:83313 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Biliary tract abnormality, Cutaneous an... |
OMIM:209920 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Nephrotic syndrome, Decreased lymphocyte apoptosis, Increased circulating IgA level... |
OMIM:603909 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Bronchiectasis, Chronic otitis media, Hepatitis, Arthritis, Osteom... |
ORPHA:33110 |
Agammaglobulinemia 8, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Transcobalamin Deficiency |
|
Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG level, Decreas... |
ORPHA:859 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:247630 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... |
OMIM:613496 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... |
OMIM:214950 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decrease... |
OMIM:240500 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Decreased serum complement C4, Hematuria, Stage 5 chronic kidney disease, Mes... |
ORPHA:329918 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulat... |
OMIM:601859 |
Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Decreased circulating IgA level, Reduced natural killer cell... |
OMIM:619281 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia |
OMIM:312863 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Inflammation of the large intes... |
OMIM:615767 |
Tubulointerstitial Nephritis With Uveitis |
|
Reversible renal failure, Circulating immune complexes, Anterior uveitis, Panuveitis, Uveitis, Gl... |
OMIM:607665 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... |
ORPHA:69126 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency |
ORPHA:3327 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Increased ... |
ORPHA:186 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6, Hepatitis, Splenomegaly, Increased inflammator... |
ORPHA:158061 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Cryoglobulinemia, Hematuria, Arthritis, Circulating imm... |
ORPHA:91138 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Atopic dermatitis, Decreased specific antibody response to polysaccharide vaccine, Rhi... |
ORPHA:70593 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Decreased circulating IgA level, D... |
OMIM:616100 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Nephrotic syndrome, Decreased serum complement C4, Reduced natural killer cell acti... |
OMIM:615559 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Fechtner syndrome |
|
Menorrhagia, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:153640 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... |
ORPHA:139402 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Increased circulating interleukin 6, Asplenia, Hematuria, Nephritis, Elevated circu... |
OMIM:614034 |
Wilson Disease |
|
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Arthritis, Acute hepatitis, Splenome... |
ORPHA:905 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... |
OMIM:618394 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Increased circulating IgM ... |
OMIM:242860 |
Lassa Fever |
|
Spontaneous abortion, Menometrorrhagia, Jaundice, Oliguria, Increased circulating IgM level, Conj... |
ORPHA:99824 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Conjunctivitis |
OMIM:612692 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chronic otitis media, Hepat... |
ORPHA:47 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Chronic sinusitis, Agammaglobulinemia, Recurrent pneumonia, Recurrent otitis media |
OMIM:613502 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Liv... |
ORPHA:183675 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Peritonitis, Hepatocellular ... |
ORPHA:139507 |
Myh9-Related Disease |
|
Menorrhagia, Nephritis, Nephropathy, Elevated hepatic transaminase, Proteinuria, Renal insufficiency |
ORPHA:182050 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Increased circulating IgM level |
ORPHA:2688 |
Xanthinuria, Type I |
|
Hydronephrosis, Xanthine nephrolithiasis, Pyelonephritis, Reduced xanthine dehydrogenase level, X... |
OMIM:278300 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
IgA deposition in the glomerulus, Increased circulating antibody level, Rheumatoid arthritis |
OMIM:178610 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Giant cell hepatitis, Cholelithiasis, Jaundice |
OMIM:214980 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Nephritis, Stage 5 chronic kidney disease |
OMIM:609057 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... |
OMIM:203780 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Increased circulating antibody level, Nephro... |
ORPHA:100024 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Portal fibrosis, Nephronophthisis, Stage 5 c... |
OMIM:615862 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Hashimoto thyr... |
OMIM:618549 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Lack of T cell function, Recurrent otitis media,... |
ORPHA:277 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Decreased circulating IgA level, Increased circ... |
ORPHA:2442 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Erythroderma, Hepatitis, Arthritis, Increased circulating IgE level, Glomerulonephritis |
OMIM:304790 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Cholestatic liver disease, Nephro... |
OMIM:613404 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash |
OMIM:152700 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Discoid lupus rash, Malar rash, Increased circulating antib... |
ORPHA:90280 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... |
OMIM:307200 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:605258 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Hepatic failure, Ele... |
OMIM:607765 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Zika Virus Disease |
|
Infectious encephalitis, Spontaneous abortion, Arthritis, Increased circulating IgM level, Maculo... |
ORPHA:448237 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Increased circulating antibody... |
OMIM:615846 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Renal dysplasia, Nephritis, Pyelonephritis, Unilateral renal atrophy |
OMIM:314300 |
Candidiasis, Familial, 2 |
|
Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
Adult-Onset Still Disease |
|
Myocarditis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Arthritis, Splen... |
ORPHA:829 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Lack of T cell function, Rhinitis, Sclerosing cholangitis, Decreased circulating antib... |
ORPHA:572 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Infectious encephalitis, Colitis |
OMIM:616098 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... |
OMIM:614817 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... |
ORPHA:90003 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... |
ORPHA:171 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... |
OMIM:614878 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating antibody level, Skin rash |
OMIM:618048 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... |
OMIM:617303 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, Agammaglobulinemia, Pneumonia, Bronchiectasis, Decreased circulating antibody level, R... |
OMIM:601495 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Panniculitis, Increased circulating IgM level, Skin rash |
OMIM:617099 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:618987 |
Griscelli Syndrome |
|
Hepatomegaly, Hepatitis, Decreased circulating antibody level, Bone marrow hypocellularity, Splen... |
ORPHA:381 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hypospadias, Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decrease... |
OMIM:301045 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Rift Valley Fever |
|
Infectious encephalitis, Hematuria, Hepatitis, Spontaneous abortion, Increased circulating IgG le... |
ORPHA:319251 |
Legionnaires Disease |
|
Myocarditis, Infectious encephalitis, Pericarditis, Endocarditis, Hematuria, Hepatitis, Bone marr... |
ORPHA:549 |
Immunodeficiency 92 |
|
Cholangitis, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:619652 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Reduced sperm motility, Decreased glomerular filtration rate, Hematuria, Pyelon... |
ORPHA:730 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Bronchiectasis, Increased circulating IgG level, Chronic mucocutaneous... |
OMIM:615816 |
Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
Porphyria Cutanea Tarda |
|
Viral hepatitis, Abnormal erythrocyte enzyme level, Elevated hepatic iron concentration, Hepatoce... |
ORPHA:101330 |
Q Fever |
|
Myocarditis, Hepatomegaly, Pericarditis, Infectious encephalitis, Cryoglobulinemia, Pneumonia, En... |
ORPHA:781 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... |
OMIM:104200 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
Aspergillosis |
|
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti... |
ORPHA:1163 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Cholestatic liver disease, Nephro... |
OMIM:208085 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Cholelithiasis, Splenomegaly |
ORPHA:848 |
Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Hepatomegaly, Hepatitis, Colitis |
OMIM:614602 |
Melioidosis |
|
Abnormality of the spleen, Splenic abscess, Pneumonia, Prostatitis, Hepatitis, Septic arthritis, ... |
ORPHA:31202 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Myositis, Abnormality of the urinary system, Decreased serum complement C4, D... |
ORPHA:93552 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... |
OMIM:616576 |
Brucellosis |
|
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Liver abscess, P... |
ORPHA:1304 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Recurr... |
OMIM:615577 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, Pneumonia, Chronic otitis media, Increased circulating IgE level, Recurrent ba... |
ORPHA:217390 |
Wilson Disease |
|
Hyperphosphaturia, Hepatomegaly, Renal tubular dysfunction, Aminoaciduria, Hepatocellular carcino... |
OMIM:277900 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating aspartate aminotransferase concentration, Interface hepatitis, Elevated seru... |
OMIM:611182 |
Autoimmune Lymphoproliferative Syndrome |
|
Recurrent aphthous stomatitis, Hepatitis, Splenomegaly, Gastritis, Hypersplenism, Uveitis, Abnorm... |
ORPHA:3261 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... |
ORPHA:37042 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Otiti... |
ORPHA:275 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Increased circulating antibody level, Splenomegaly |
OMIM:615285 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level |
OMIM:618523 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... |
ORPHA:39812 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG level, De... |
ORPHA:331206 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Increased circu... |
OMIM:619632 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Nephrotic syndrome, Macronodular cirrhosis, Decreased circulating IgA leve... |
OMIM:215250 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Aplasia/Hypoplasia ... |
ORPHA:227990 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Hemoglobinuria, Hepatitis, Cholelithiasis, Splenomegaly, Jaundice |
OMIM:194380 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Increased circulating IgG1 level, Inflammat... |
ORPHA:449395 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Hepatitis, Acute pancreatitis, Maculopapular exanthema |
ORPHA:319218 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Pneumonia, Decreased circulating IgA level, Abnormal immunoglobulin level, Decrease... |
ORPHA:276 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... |
OMIM:147060 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... |
ORPHA:209902 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Bacterial endocarditis, Cryoglobulinemia, Pneumonia, Increa... |
ORPHA:48435 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Tubulointerstitial nephritis, Nephritis, Hepatic steatosi... |
OMIM:203800 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Aplasia/Hypoplasia ... |
ORPHA:227982 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Hypogonadism, Abnormal enzyme/co... |
ORPHA:79095 |
Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... |
ORPHA:63 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Gastri... |
OMIM:618108 |
Dyschondrosteosis And Nephritis |
|
Nephritis |
OMIM:127350 |
Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Hepatitis |
ORPHA:199296 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Myositis, Fasciitis, Hep... |
ORPHA:36234 |
Retinal Venous Beading |
|
Nephritis |
OMIM:180080 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Decreased circulating IgA level, Hepatitis, Splenomegaly, Hypersplenism, Hashimoto ... |
OMIM:613385 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Hydronephrosis, Increased hepatic glycogen content, Elevated hepatic transaminase, ... |
OMIM:614921 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the spleen, Pericarditis, Folliculitis, Pneumonia, Peri... |
ORPHA:228123 |
Igg4-Related Aortitis |
|
Hydronephrosis, Increased circulating IgG4 level, Complement deficiency, Increased circulating Ig... |
ORPHA:449400 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Rheumatoid arthritis, Pustule |
ORPHA:48377 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Cholestatic liver disease, Abnormal renal tubule morphology, Cholestasis, Portal hyper... |
ORPHA:440713 |
Microsporidiosis |
|
Sinusitis, Cholangitis, Myocarditis, Hepatitis, Abnormality of the urinary system physiology, Inf... |
ORPHA:2552 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... |
OMIM:301050 |
Avian Influenza |
|
Infectious encephalitis, Pneumonia, Hepatitis, Spontaneous abortion, Acute kidney injury, Increas... |
ORPHA:454836 |
Thymic Aplasia |
|
Sinusitis, Eczematoid dermatitis, Pneumonia, Chronic otitis media, Chronic oral candidiasis, Decr... |
ORPHA:83471 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease,... |
OMIM:616629 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG level... |
ORPHA:74 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Hematuria, Hepatitis, Dyspareunia, Recurrent urinary tract infections, Skin rash |
ORPHA:1334 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Decreased specific antibody response to vaccination, Pneumon... |
OMIM:614700 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Pustule, Lack of T cell function, Decreased circulating IgG level, Partial IgA deficiency, Decrea... |
ORPHA:35078 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Biliary tract obstruction... |
ORPHA:400 |
Relapsing Polychondritis |
|
Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hematuria, Hepatitis, A... |
ORPHA:728 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Decreased circulating antibody level, Parotitis, Optic neuritis, Cr... |
ORPHA:289390 |
Tularemia |
|
Pneumonia, Increased circulating antibody level, Otitis media, Inflammatory abnormality of the ey... |
ORPHA:3392 |
Interstitial Lung Disease 2 |
|
Cirrhosis, Increased circulating antibody level |
OMIM:178500 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Splenomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:170100 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Cirrhosis, Chronic hepatitis, Keratoconju... |
OMIM:269200 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced red cell adenosine d... |
OMIM:102700 |
Congenital Enterovirus Infection |
|
Myocarditis, Infectious encephalitis, Hepatitis, Skin rash, Cholestasis, Hepatic failure |
ORPHA:292 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Hepatomegaly, Acute hepatitis |
OMIM:238970 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... |
OMIM:617388 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Heavy proteinuria, Nephrotic syndrome, Decreased circulating IgG level, Bone marrow hypocellulari... |
ORPHA:505248 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cholangitis, Hepatitis, Cirrhosis, Hepatosplenomegaly, Thyroiditis, Hypersplenism, Acute hepatic ... |
ORPHA:228426 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... |
OMIM:600903 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in response to ... |
ORPHA:169154 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... |
ORPHA:555905 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Tubulointerstitial nephritis, Elevated gamma-glutamyltransferase level, Hepatic ste... |
OMIM:614582 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Decreased circulating total IgM |
ORPHA:2643 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, Parotitis, C... |
ORPHA:449427 |
Leishmaniasis |
|
Hepatomegaly, Rhinitis, Splenomegaly, Increased circulating antibody level, Elevated hepatic tran... |
ORPHA:507 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Psoriasiform dermatitis, Interface hepatitis |
OMIM:243150 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Asplenia, Nephrocalcinosis, Chronic oral candidiasis, Cholelithiasis, C... |
OMIM:240300 |
Myasthenia Gravis |
|
Myositis, Hepatitis, Glycosuria, Rheumatoid arthritis, Hashimoto thyroiditis |
ORPHA:589 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:611926 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Myositis, Increased circulating IgA lev... |
ORPHA:79078 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Hepatomegaly, Myositis, Panniculitis, Arthritis, Splenomegaly, Increased circulating a... |
OMIM:617591 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Increased circulating antibody level, Splenomegaly, Decreased lymphocyte apoptosis |
OMIM:614470 |
Plasminogen Deficiency, Type I |
|
Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis |
OMIM:217090 |
Immunodeficiency 47 |
|
Hepatomegaly, Decreased circulating total IgA, Hepatic fibrosis, Decreased circulating total IgG,... |
OMIM:300972 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Renal tubular dysfunction, Hepatitis, Bone marrow hypocellularity, Pancreatiti... |
ORPHA:562 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Hepatomegaly, Hematuria, Epididymitis, Increased circulating IgG level, Parotitis, S... |
ORPHA:99827 |
Netherton Syndrome |
|
Eczema, Hydronephrosis, Erythroderma, Decreased circulating antibody level, Increased circulating... |
ORPHA:634 |
Spondyloenchondrodysplasia |
|
Pneumonia, Hematuria, Hepatitis, Arthritis, Juvenile rheumatoid arthritis, Skin rash, Chronic kid... |
ORPHA:1855 |
Selective Igm Deficiency |
|
Non-infectious meningitis, Fasciitis, Crohn's disease, Decreased circulating total IgM, Allergic ... |
ORPHA:331235 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:251190 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Yellow Fever |
|
Increased circulating interleukin 6, Anuria, Elevated circulating aspartate aminotransferase conc... |
ORPHA:99829 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Increased circulating IgA level, Nephritis, Decreased serum complement factor B, Incre... |
ORPHA:2298 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Myotonic Dystrophy 2 |
|
Oligospermia, Decreased circulating IgG level, Hypogonadism, Decreased circulating total IgM |
OMIM:602668 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:228302 |
Tick-Borne Encephalitis |
|
Abnormality of serum cytokine level, Increased circulating IgG level, Increased circulating IgM l... |
ORPHA:297 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgA, Decreased circulating total IgG, Pneumonia, Bronchiectasis, Hepa... |
OMIM:619381 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Prostatitis, Retroperitoneal fibrosis, Increased circulating IgG4 level, Increased c... |
ORPHA:449432 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Decreased circulating IgA level, Chronic oral cand... |
OMIM:606367 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Allergic rhinitis, Erythroderma |
OMIM:256500 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Infectious encephalitis, Bronchiectasis, Renovascul... |
ORPHA:391487 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Pancreatic cysts, Bile duct proliferation, Nephritis, Renal cyst, Polycystic li... |
OMIM:208500 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Bloom Syndrome |
|
Bronchiectasis, Decreased circulating IgA level, Azoospermia, Decreased circulating IgG level, Ma... |
OMIM:210900 |
Pneumocystosis |
|
Interstitial pneumonitis, Chronic oral candidiasis, Increased circulating lactate dehydrogenase c... |
ORPHA:723 |
Listeriosis |
|
Myocarditis, Infectious encephalitis, Pericarditis, Pustule, Pneumonia, Endocarditis, Peritonitis... |
ORPHA:533 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis |
OMIM:270150 |
Mucopolysaccharidosis Type 7 |
|
Mucopolysacchariduria, Hepatitis, Splenomegaly |
ORPHA:584 |
Zygomycosis |
|
Sinusitis, Myocarditis, Pericarditis, Infectious encephalitis, Pustule, Endocarditis, Peritonitis... |
ORPHA:73263 |
Japanese Encephalitis |
|
Infectious encephalitis, Increased circulating antibody level, Increased circulating IgM level |
ORPHA:79139 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Lymphadenitis, Chronic oral candidiasis, Arthritis, Splenomegaly... |
OMIM:260920 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Increased circulating IgA level, Arthritis, Recurrent aphthous stomatitis |
ORPHA:343 |
Lead Poisoning |
|
Oligospermia, Abnormal sperm morphology, Infertility, Tubulointerstitial nephritis, Renal tubular... |
ORPHA:330015 |
Hardikar Syndrome |
|
Cholangitis, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Hypop... |
OMIM:301068 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
Alveolar Echinococcosis |
|
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Renal cyst, Ab... |
ORPHA:284 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Renal tubular atrophy, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndro... |
ORPHA:85450 |
Vulvovaginitis, Allergic Seminal |
|
Vaginitis |
OMIM:193450 |
Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Decreased circulating antibody level, Exocrine pancreatic insuff... |
ORPHA:586 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Eczema |
OMIM:313900 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Nephrotic syndrome, Decreased circulating IgA level, Proximal tub... |
OMIM:212065 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Methylmalonic aciduria, Decreased circulating IgG level, Decreas... |
OMIM:275350 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Psoriasiform dermatitis, Decreased circulating total IgA, Decreased specific antibody response to... |
ORPHA:221139 |
Pgm3-Cdg |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Bronchiectasis, Increased circulating IgA level, Ch... |
ORPHA:443811 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Kawasaki Disease |
|
Myocarditis, Pericarditis, Cheilitis, Sterile pyuria, Hepatitis, Arthritis, Jaundice, Skin rash, ... |
ORPHA:2331 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... |
ORPHA:93126 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hyperspl... |
ORPHA:231226 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Biliary tract obstruction, Hematuria, Splenomegaly, Cirrhosis, Increased circulatin... |
ORPHA:77259 |
Hand-Foot-Genital Syndrome |
|
Hypospadias, Chordee, Pyelonephritis, Micropenis, Ureteropelvic junction obstruction, Vesicourete... |
OMIM:140000 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustule, Myositis, Increased circulating IgA level, Increased circulating IgG level, Malar rash, ... |
OMIM:615934 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
Urban-Rogers-Meyer Syndrome |
|
Hypogonadism, Increased circulating IgE level, Abnormality of the ureter, Hypoplasia of penis |
ORPHA:3409 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... |
ORPHA:470 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Oroticaciduria, Hepatitis, Decreased liver function, Hepatic failure, Elevated hepa... |
ORPHA:415 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic aciduria, Stage 5 chronic kidney diseas... |
OMIM:251000 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Rec... |
OMIM:612301 |
Gaucher Disease |
|
Hepatomegaly, Hematuria, Hepatitis, Osteomyelitis, Splenomegaly, Cirrhosis, Increased circulating... |
ORPHA:355 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level, Functional abnormality of the bladder |
DECIPHER:45 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Birk-Landau-Perez Syndrome |
|
Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal insufficiency |
OMIM:617595 |
Bloom Syndrome |
|
Oligospermia, Pneumonia, Azoospermia, Decreased circulating IgA level, Cheilitis, Decreased circu... |
ORPHA:125 |
Acute Disseminated Encephalomyelitis |
|
Herpes simplex encephalitis, Viral hepatitis, Myelitis, Optic neuritis |
ORPHA:83597 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Nephritis, Arthritis, Stage 5 chronic kidney disease, Proteinuria,... |
ORPHA:2614 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A... |
ORPHA:420741 |
Feingold Syndrome Type 1 |
|
Horseshoe kidney, Hydronephrosis, Renal dysplasia, Nephritis, Vesicoureteral reflux, Renal insuff... |
ORPHA:391641 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly, Renal insu... |
ORPHA:33226 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Recurrent aphthous stomatitis, Hemolytic-uremic syndrome, Impaired platelet aggregatio... |
ORPHA:2968 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Elevated serum transaminases during infections, Hepatitis, Optic neur... |
ORPHA:509 |
Late-Onset Isolated Acth Deficiency |
|
Hashimoto thyroiditis, Hepatitis, Premature ovarian insufficiency |
ORPHA:199299 |
Ataxia-Telangiectasia |
|
Sinusitis, Bronchiectasis, Decreased circulating IgA level, Defective B cell differentiation, Dec... |
OMIM:208900 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Increased circulating IgE level |
ORPHA:2902 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Chronic otitis media, Osteomyelitis, Increased circulating IgE level, Skin rash |
ORPHA:2314 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Peritonitis, Anuria, Megacystis, Fetal megacystis, Pyelonephritis |
OMIM:619351 |
Al Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Abnormality of the liver, Renal interstitial amyloid deposits, ... |
ORPHA:85443 |
Multiple Myeloma |
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Nephrotic syndrome, Increased circulating IgA level, Decreased circulating antibody level, Increa... |
ORPHA:29073 |
Wiskott-Aldrich Syndrome |
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Eczema, Inflammation of the large intestine, Increased circulating IgA level, Recurrent otitis me... |
OMIM:301000 |
Alg12-Cdg |
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Hypospadias, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... |
ORPHA:79324 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level |
OMIM:246550 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Portal fibrosis, Arthrit... |
ORPHA:3260 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Psoriasiform dermatitis, Peritoneal abscess, Hepatitis, Abnormality of the ductus choledochus, Ha... |
ORPHA:436252 |
Tempi Syndrome |
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Abnormality of the kidney, Increased circulating IgG level |
ORPHA:284227 |
Eosinophilic Granulomatosis With Polyangiitis |
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Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuria, Arthriti... |
ORPHA:183 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... |
ORPHA:157 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Microscopic hematuria, Mild p... |
ORPHA:91500 |
Mevalonic Aciduria |
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Fluctuating splenomegaly, Fluctuating hepatomegaly, Hepatosplenomegaly, Increased circulating lac... |
OMIM:610377 |
Hypoplasminogenemia |
|
Periodontitis, Cervicitis, Nephrolithiasis |
ORPHA:722 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:90362 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
Leigh Syndrome With Nephrotic Syndrome |
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Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Acute Liver Failure |
|
Hepatocellular necrosis, Hepatitis, Hepatic necrosis, Acute kidney injury, Skin rash, Elevated he... |
ORPHA:90062 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Glomerular sclerosis, Renal interstitial amyloid deposits, Par... |
ORPHA:439232 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... |
ORPHA:228308 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Recurrent sk... |
ORPHA:33001 |
Mogs-Cdg |
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Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... |
ORPHA:79330 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Cholangitis, Microvesicular hepatic steatosis, Tubulointerstitial nephritis, Decreased liver func... |
OMIM:124000 |
Igg4-Related Thyroid Disease |
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Retroperitoneal fibrosis, Increased circulating IgG4 level, Thyroiditis, Hashimoto thyroiditis, P... |
ORPHA:64744 |
Celiac Disease, Susceptibility To, 1 |
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Eczema, Infertility, Stomatitis, Decreased circulating IgA level, Thyroiditis, Elevated hepatic t... |
OMIM:212750 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Increased circulating IgG level, Eosinophilic infiltration of the... |
OMIM:618213 |
Scalp-Ear-Nipple Syndrome |
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Ureteral duplication, Pyelonephritis, Duplication of renal pelvis, Recurrent urinary tract infect... |
ORPHA:2036 |
Igg4-Related Ophthalmic Disease |
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Sinusitis, Cholangitis, Prostatitis, Retroperitoneal fibrosis, Increased circulating IgG4 level, ... |
ORPHA:449563 |
Secondary Intestinal Lymphangiectasia |
|
Constrictive pericarditis, Decreased circulating IgA level, Decreased circulating antibody level,... |
ORPHA:90363 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Renal hypoplasia, Renal agenesis, Pyelonephritis |
OMIM:181270 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pyelonephritis, Recurrent urinary tract infections, Urethral diverticulum, Multiple bladder diver... |
ORPHA:90349 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Horseshoe kidney, Hepatomegaly, Decreased circulating IgG level, Decreased lymphocyte proliferati... |
ORPHA:508533 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Increased circulating interleukin 6, Episcleritis, Increased circulating IgA level,... |
OMIM:256040 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... |
ORPHA:488627 |
Occipital Horn Syndrome |
|
Hepatitis, Esophagitis, Recurrent urinary tract infections, Cholestasis, Bladder diverticulum, Ja... |
ORPHA:198 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Decreased circulating IgA level, Renal dysplasia, Congenital megaureter, Abnorm... |
ORPHA:369837 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Rhinitis, Fulminant hepatitis, Microscopic hematuria, Oliguria, Increased circulatin... |
ORPHA:319213 |
Vaginal Atresia |
|
Cervicitis, Primary amenorrhea |
ORPHA:65681 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6, Tubulointerstitial nephritis, Decreased urine output, Pneumo... |
ORPHA:340 |
Intermediate Uveitis |
|
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis |
ORPHA:279914 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Decreased circulating IgA level, Splenomegaly, Hepatic steatosis, Elevated hepatic ... |
OMIM:613327 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level |
OMIM:616638 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Inflammation of the large intestine, Bronchiectasis, Arthritis, Splenomegaly, Incre... |
OMIM:181000 |
Alström Syndrome |
|
Oligospermia, Hepatitis, Splenomegaly, Micropenis, Hepatosplenomegaly, Chronic kidney disease, Po... |
ORPHA:64 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level, Hypospadias |
ORPHA:457485 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney |
ORPHA:459061 |
Congenital Analbuminemia |
|
Increased circulating antibody level, Spontaneous abortion |
ORPHA:86816 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Eczema, Hydronephrosis, Pancreatic hypoplasia, Superficial dermal perivascular infl... |
ORPHA:83617 |
Dubowitz Syndrome |
|
Hypospadias, Eczema, Decreased circulating IgA level, Decreased circulating IgG level, Otitis media |
OMIM:223370 |
Encephalitis Lethargica |
|
Urinary incontinence, Increased circulating antibody level |
ORPHA:83600 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Hematuria, Splenomegaly, Increased circulating antibody level, Proteinuria |
ORPHA:77261 |
Scleromyxedema |
|
Paraproteinemia, Abnormality of the kidney |
ORPHA:167635 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Arthritis, Pancreatitis, Increased circulating antibody level, Uveitis, Maculopapul... |
ORPHA:99826 |
Cysticercosis |
|
Increased circulating antibody level, Infectious encephalitis, Iridocyclitis |
ORPHA:1560 |
Poems Syndrome |
|
Hypogonadism, Increased circulating antibody level, Erectile dysfunction |
ORPHA:2905 |
Trichinellosis |
|
Increased circulating IgE level, Skin rash, Conjunctivitis |
ORPHA:863 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum, Bronchiectasis |
ORPHA:90348 |
Simpson-Golabi-Behmel Syndrome |
|
Hypospadias, Hepatomegaly, Ureteral duplication, Hydronephrosis, Hydroureter, Polysplenia, Hepato... |
ORPHA:373 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Hematuria, Acute kidney injury, Proteinuria, Increased circulating ... |
ORPHA:90068 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Tubulointerstitial nephritis, Hepatic fibrosis, Malformation of the hepatic ductal ... |
OMIM:218330 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level |
OMIM:208910 |
Gitelman Syndrome |
|
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Renal t... |
ORPHA:358 |
Monosomy 18Q |
|
Decreased circulating IgA level, Micropenis |
ORPHA:1600 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Sarcoidosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Tubulointerstitial nephritis, Bronchiectasis, Nephrocal... |
ORPHA:797 |
Viss Syndrome |
|
Atopic dermatitis, Eczema, Hydronephrosis, Decreased circulating IgA level, Increased circulating... |
OMIM:619472 |