| Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
| Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
| Lichen Amyloidosis |
|
Pruritus |
ORPHA:49804 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis |
OMIM:114550 |
| Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... |
OMIM:615861 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
| RCAD (renal cysts and diabetes) |
|
Diabetes mellitus, Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... |
OMIM:618944 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Hydronephrosis, Chronic decreased circulating total IgG, Complete or... |
OMIM:613496 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Hepatic steatosis, Diabe... |
OMIM:608709 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Colitis,... |
OMIM:617006 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Decreased circulating IgA level, Increased ... |
OMIM:608106 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
| Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Glomerulonephritis, Pneumonia |
OMIM:247800 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly |
ORPHA:60 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus |
OMIM:146750 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... |
OMIM:617765 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Serositis, Glomerulonep... |
ORPHA:567544 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Chilblains, Type I diabetes mellitus, Membranoproliferative glomerulonephritis,... |
OMIM:619858 |
| Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Hematuria, Increased circulating IgA level |
OMIM:314000 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
| Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Folliculitis, Hepatitis, Erythema nodosum, Decreased circulating antibody level, Inflammation of ... |
OMIM:300635 |
| Amyloidosis, Primary Localized Cutaneous, 2 |
|
Pruritus |
OMIM:613955 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Pneumo... |
OMIM:617638 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
| Osteoarthritis Susceptibility 3 |
|
Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j... |
OMIM:607850 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn... |
OMIM:613779 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
| Mahvash Disease |
|
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
| Caspase 8 Deficiency |
|
Decreased T cell activation, Decreased circulating total IgM, Eczema, Complete or near-complete a... |
OMIM:607271 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
| Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating IgA level, Agammaglob... |
OMIM:619707 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... |
OMIM:613500 |
| C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Chronic oral candidiasis, ... |
OMIM:300400 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recur... |
OMIM:612692 |
| Complement Component 4B Deficiency |
|
Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Chronic active hepatitis |
OMIM:614379 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus |
OMIM:617920 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le... |
OMIM:618982 |
| Chondrocalcinosis 2 |
|
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy |
OMIM:118600 |
| Tubulointerstitial Nephritis With Uveitis |
|
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Panuve... |
OMIM:607665 |
| Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:610163 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
| Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Crohn's disease, Increased circulating IgE level, Decreased ... |
OMIM:615767 |
| Immunodeficiency 61 |
|
Decreased circulating total IgM, Arthritis, Decreased circulating IgG2 level, Recurrent sinusitis... |
OMIM:300310 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... |
OMIM:600803 |
| Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Increased circulating lactate dehydr... |
ORPHA:158061 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegaly |
OMIM:243300 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating alanine aminotransferase concentration, Absent isohemagglutinin level, Reduc... |
OMIM:615559 |
| Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
| African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Hepatic b... |
ORPHA:139507 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... |
OMIM:607765 |
| Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
| Low Phospholipid-Associated Cholelithiasis |
|
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... |
ORPHA:69663 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
| Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, Arthritis, Sclerosing chola... |
ORPHA:2137 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
| Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level |
OMIM:300988 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Splenomegaly, Recurrent otitis media |
ORPHA:444463 |
| Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con... |
OMIM:214950 |
| Chondrocalcinosis 1 |
|
Chondrocalcinosis, Osteoarthritis |
OMIM:600668 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
| Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Sinusitis, Otitis media, Decreased circulating IgG level |
OMIM:312863 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, He... |
OMIM:618999 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cirrhosis, Jaundice, Hepatocellular carcinoma, Acholic stools, Cholestatic liver ... |
ORPHA:65682 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... |
ORPHA:79303 |
| Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Recurrent sinusitis, Decre... |
OMIM:618969 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis |
OMIM:614380 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
| Developmental Dysplasia Of The Hip 2 |
|
Arthritis, Hip osteoarthritis |
OMIM:615612 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Inflammatory abnormality of the skin, Recurrent otitis media, Recurrent ... |
ORPHA:277 |
| Immunodeficiency 56 |
|
Hepatic failure, Cirrhosis, Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurr... |
OMIM:615207 |
| Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:616636 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer... |
ORPHA:567548 |
| Actinic Prurigo |
|
Pyoderma, Cheilitis, Glomerulonephritis |
OMIM:174770 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced antigen-specific T cell proliferation, Eczema, Increased circulating IgM level, Reduced d... |
OMIM:617241 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Arthritis, Type I diabetes mellitus, Eczema, Glomerulonephritis, Erythroderma, Increas... |
OMIM:304790 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
| Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent sinusitis, Recurrent o... |
OMIM:607594 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Bronchiectasis, Cutaneous abscess, Chronic mucocutaneous candidi... |
OMIM:619752 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Thyroiditis, Increased circulating IgE level, Eczema |
OMIM:618985 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Hashimoto thyroidi... |
OMIM:618549 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinusitis, Recurrent o... |
OMIM:618282 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum |
OMIM:615214 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... |
ORPHA:209902 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Recurrent sinusitis, Infla... |
OMIM:619281 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Hepatitis, Increased circulating antibody level, Hepatosplenomegaly, Re... |
ORPHA:169160 |
| Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia,... |
OMIM:240500 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis |
OMIM:620137 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Increased circulating antibody level, Jaundice, ... |
ORPHA:400 |
| Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
ORPHA:859 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Maculopapular exanthema, Nephrotic syndrome, Elevated hepatic transami... |
OMIM:619644 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Hepatic steatosis |
OMIM:619386 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating total IgM, Decreased circulating antibody level, Complete or... |
OMIM:301081 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Arthritis, Crescentic glomerulonephritis |
OMIM:616414 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Bronchiectasis, Eosinophilic infiltration of the esophagus, Ecze... |
OMIM:243700 |
| Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
| Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Eczema, Recurrent otitis media, Keratitis, Increased circulating IgE level |
OMIM:618523 |
| Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
| Wilson Disease |
|
Cirrhosis, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hepa... |
ORPHA:905 |
| Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Abnormal circulating porphyrin concentration, Periportal fib... |
ORPHA:101330 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Recurrent sinusitis, Pneumonia, Increased... |
ORPHA:217390 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Interface hepatitis, Elevated circulating asparta... |
OMIM:611182 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Portal inflammati... |
OMIM:603471 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
| Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Arthritis, Skin rash, Sinusitis, Recurr... |
ORPHA:33110 |
| Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
OMIM:618805 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis |
OMIM:167800 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Thyroiditis, Splenomegaly, Hepatomegaly |
OMIM:619375 |
| Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
| Systemic Lupus Erythematosus |
|
Malar rash, Arthritis, Nephritis, Pericarditis, Lupus nephritis |
OMIM:152700 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Skin rash, Arthritis, Elevated hepatic trans... |
ORPHA:829 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Hepatom... |
OMIM:614376 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Increased circulating IgE level, Pustule |
OMIM:616069 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Wrist flexion contracture, Congenital finger flexion contractures, Synovial hypertrophy, Arthropa... |
OMIM:208250 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Cirrhosis, Abnormal circulating IgM level, Chronic oral candidiasis, He... |
OMIM:308230 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... |
ORPHA:562639 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Eczematoid ... |
OMIM:147060 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Splenomegaly, Hepatitis, Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Ch... |
OMIM:194380 |
| Immunodeficiency 15B |
|
Agammaglobulinemia, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to m... |
OMIM:615592 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Nephrotic syndrome, Arthritis, Abnormality of the kidney... |
ORPHA:91139 |
| Immunodeficiency 11 |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
| Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Abnormal circulating lipid conce... |
ORPHA:186 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Impaired neutrophil bactericidal activity, Pigment gallsto... |
OMIM:613470 |
| Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Skin rash, Decreased circu... |
OMIM:619924 |
| Complement Factor I Deficiency |
|
Septic arthritis, Recurrent urinary tract infections, Pyelonephritis, Recurrent sinusitis, Recurr... |
OMIM:610984 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
| Congenital Isolated Acth Deficiency |
|
Hepatitis, Prolonged neonatal jaundice, Hyperkalemia, Hyponatremia |
ORPHA:199296 |
| Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Eczema, Recurrent otitis media, ... |
OMIM:619774 |
| Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Decreased c... |
OMIM:618394 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Hepatomegaly |
OMIM:608600 |
| Immunodeficiency 37 |
|
Infectious encephalitis, Colitis, Decreased circulating antibody level |
OMIM:616098 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
| Rat-Bite Fever |
|
Endocarditis, Septic arthritis, Lymphadenitis, Oligoarthritis, Maculopapular exanthema, Erythema ... |
ORPHA:31205 |
| Nephronophthisis 19 |
|
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... |
OMIM:616217 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Glucos... |
OMIM:606069 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgE, Recurrent pneumonia, Decreased circul... |
OMIM:619824 |
| X-Linked Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Recurrent cutaneous abscess forma... |
ORPHA:47 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Splenomegaly |
ORPHA:848 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria |
OMIM:619428 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Hepatomegaly |
ORPHA:289916 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Splenomegaly, Hepatomegaly |
ORPHA:79312 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Intrahepatic bile ... |
OMIM:614377 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hyperparathyroidism |
OMIM:145001 |
| Hereditary Chronic Pancreatitis |
|
Recurrent pancreatitis, Jaundice, Pancreatic calcification |
ORPHA:676 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Blepharitis, Increased circulating IgE level, Erythroderma |
OMIM:614328 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Arteri... |
ORPHA:93126 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti... |
ORPHA:449395 |
| Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Arthritis, Limitation of joint mobility, Joint swelling, Chondrocalcinosis, Os... |
ORPHA:1416 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Graft Versus Host Disease |
|
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit... |
ORPHA:39812 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Elevated ci... |
ORPHA:79095 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
| Microscopic Polyangiitis |
|
Skin rash, Arthritis, Uveitis, Pericarditis, Sinusitis, Episcleritis, Peritonitis, Increased infl... |
ORPHA:727 |
| Bullous Lichen Planus |
|
Pruritus |
ORPHA:33408 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Crusting erythematous dermatitis, Elevated hepatic transaminase, Eczema, Myositis, Gastritis, Col... |
ORPHA:37042 |
| Gcgr-Related Hyperglucagonemia |
|
Increased glucagon level, Neoplasm of the pancreas, Stomatitis, Diabetes mellitus, Abnormal bilia... |
ORPHA:438274 |
| Metachromatic Leukodystrophy |
|
Urinary incontinence, Cholecystitis, Gallbladder dysfunction |
OMIM:250100 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Bronchiectasi... |
OMIM:301082 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Myocarditis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumo... |
ORPHA:139402 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
| Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Splenomegaly, Hepatomegaly, Colitis, Pancreatitis |
OMIM:615947 |
| Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Decreased serum iron, Colitis, Hepatomegaly, Chronic hepatitis |
OMIM:614602 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperammonemia, Hepatomegaly, Hyperornithinemia, Decreased liver function, Acute hepatitis |
OMIM:238970 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly |
ORPHA:27 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Biliary tract abnormality, Cholangitis, Viral hepatitis, Chronic mucocu... |
OMIM:209920 |
| Cach Syndrome |
|
Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Eczema, Ulcerative colitis, Hepatosplenomegaly,... |
OMIM:618935 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:300861 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... |
OMIM:614921 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased... |
ORPHA:183675 |
| Melioidosis |
|
Septic arthritis, Prostatitis, Hepatitis, Liver abscess, Osteoarthritis, Cutaneous abscess, Foot ... |
ORPHA:31202 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Decreased circulating antibody level, Hepatitis, Jaundi... |
ORPHA:381 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pancreatitis |
ORPHA:70578 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Jaundice, Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Cholestatic liver di... |
OMIM:613404 |
| Avian Influenza |
|
Conjunctivitis, Myelitis, Hepatitis, Elevated hepatic transaminase, Elevated circulating creatine... |
ORPHA:454836 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgA ... |
OMIM:614069 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Erythroderma |
OMIM:270300 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Dec... |
OMIM:614878 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... |
ORPHA:275 |
| Somatostatinoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Intrahepatic cholestas... |
ORPHA:97283 |
| Legionnaires Disease |
|
Endocarditis, Splenomegaly, Hepatitis, Jaundice, Pericarditis, Infectious encephalitis, Myocardit... |
ORPHA:549 |
| Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Decreased circulating total IgM, Eczema, Decreased circulating IgE, Decreased cir... |
OMIM:619510 |
| Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating antibody level, Increased inflammatory re... |
ORPHA:449400 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, N... |
ORPHA:1830 |
| Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Myocarditis, Osteomyelitis, Renal insufficiency, Infectious encephalitis, Recur... |
ORPHA:36234 |
| Congenital Enterovirus Infection |
|
Hepatic failure, Hepatitis, Skin rash, Hyperammonemia, Cholestasis, Infectious encephalitis, Myoc... |
ORPHA:292 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:435651 |
| Immunodeficiency 92 |
|
Osteomyelitis, Sclerosing cholangitis, Esophagitis, Cholangitis, Pneumonia, Decreased circulating... |
OMIM:619652 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:611926 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Skin rash, Inflammation o... |
OMIM:618108 |
| Maple Syrup Urine Disease |
|
Pancreatitis |
OMIM:248600 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... |
OMIM:617394 |
| Primary Sclerosing Cholangitis |
|
Elevated alkaline phosphatase of hepatic origin, Cholangiocarcinoma, Elevated hepatic transaminas... |
ORPHA:171 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Agammaglobulinemia, Decreased c... |
OMIM:619705 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Glomerulonephritis, Gastritis, Bone marrow hypocellularity, Hepatomegal... |
ORPHA:3261 |
| Propionic Acidemia |
|
Pancreatitis, Eczema, Hepatomegaly |
OMIM:606054 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Portal hypertens... |
ORPHA:131 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Fulminant hepatitis, Decreased circulating antibody level, Dysgammaglobulinemia,... |
OMIM:308240 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Pancreatitis |
ORPHA:188 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Aspiration pneumonia, Pancreatitis |
ORPHA:431361 |
| Microsporidiosis |
|
Lymphadenitis, Endocarditis, Myocarditis, Rhinitis, Osteomyelitis, Infectious encephalitis, Prost... |
ORPHA:2552 |
| Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
| Pgm3-Cdg |
|
Osteomyelitis, Bronchiectasis, Allergic rhinitis, Reduced antigen-specific T cell proliferation, ... |
ORPHA:443811 |
| Aspergillosis |
|
Osteomyelitis, Bronchiectasis, Hepatitis, Sinusitis, Keratitis, Infectious encephalitis, Pneumoni... |
ORPHA:1163 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Biliary tract abnormality, Multiple glomerular cysts, Nephrolithia... |
OMIM:137920 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Pancreatitis, Hepatomegaly |
OMIM:251000 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatic steatosis, Pancreatitis, Splenomegaly, Hepatomegaly |
ORPHA:2348 |
| Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Elevated hepatic transaminase, Hepatosplenomegaly, Glomerulonephrit... |
ORPHA:470 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Intrahepatic biliary atresia, Jaundice, Elevated hepatic transaminase, Elevated gamma-glutamyltra... |
OMIM:208085 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Joint hypermobility, Abnormality of ... |
ORPHA:85410 |
| Primary Lipodystrophy |
|
Hepatic steatosis, Cirrhosis, Pancreatitis, Splenomegaly |
ORPHA:90970 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Pancreatitis, Iridocyclitis |
ORPHA:412057 |
| Immunodeficiency 23 |
|
Bronchiectasis, Allergic rhinitis, Eczema, Membranoproliferative glomerulonephritis, Increased ci... |
OMIM:615816 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia... |
OMIM:615577 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Dysuria, Rheumatoid... |
ORPHA:49041 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Splenomegaly, Hepatic steatosis, Hepatomegaly, Pancreatitis |
ORPHA:79083 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level |
OMIM:610475 |
| Netherton Syndrome |
|
Erythroderma, Increased circulating IgE level, Allergic rhinitis, Decreased circulating IgG level |
OMIM:256500 |
| Q Fever |
|
Endocarditis, Myocarditis, Maculopapular exanthema, Abnormality of the liver, Osteomyelitis, Hepa... |
ORPHA:781 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Prostatitis, Pyoderma, Enteroviral he... |
OMIM:307200 |
| Acute Lung Injury |
|
Acute pancreatitis, Pneumonia |
ORPHA:178320 |
| Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid factor positive, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Rhinitis, Panhypogammaglobulinemia, Decreased circulating antibody level, Skin rash, Sclerosing c... |
ORPHA:572 |
| Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... |
ORPHA:1304 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Thyroiditis, Eczema, Decreased lymphocyte proliferation in response to ... |
OMIM:606367 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Systemic lupus erythematosus, Autoimmunity, Limitation of joint mobility, Rheumatoid arthritis |
ORPHA:399180 |
| Thymoma |
|
Rheumatoid arthritis, Decreased circulating antibody level, Ulcerative colitis, Myositis, Glomeru... |
ORPHA:99867 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Cirrhosis, Keratoconjunctivitis, Hepatitis, Chronic mucocutaneous candidiasis, Chronic ... |
OMIM:269200 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly |
OMIM:238600 |
| Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Viral hepatitis, Hepatomegaly, S... |
ORPHA:91138 |
| Postinfectious Vasculitis |
|
Bacterial endocarditis, Inflammatory abnormality of the skin, Increased circulating antibody leve... |
ORPHA:48435 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Hypersplenism, Hashimoto thyroiditis, Decreased circulating IgA level, Hepatomegaly, P... |
OMIM:613385 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Inflammatory abnormality of the skin, Skin rash, Decreased circu... |
OMIM:102700 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cirrhosis, Hepatitis, Hypersplenism, Thyroiditis, Cholangitis, Hepatosplenomegaly, Portal hyperte... |
ORPHA:228426 |
| Agammaglobulinemia, X-Linked |
|
Conjunctivitis, Septic arthritis, Complete or near-complete absence of specific antibody response... |
OMIM:300755 |
| Immunodeficiency 22 |
|
Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating IgE, Pericarditi... |
OMIM:615758 |
| Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Portal hypertension, Cholestasis, Cholestatic liver disease |
ORPHA:440713 |
| Leukocyte Adhesion Deficiency |
|
Hemolytic-uremic syndrome, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Hype... |
ORPHA:2968 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Jaundice, Cholecystitis, Hepatomegaly, Cholelithiasis |
OMIM:266200 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... |
ORPHA:567546 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Cholestasis, ... |
OMIM:610199 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Chronic oral candidia... |
ORPHA:276 |
| Mirizzi Syndrome |
|
Cholesterol gallstones, Jaundice, Cholelithiasis, Abnormality of the ductus choledochus, Gallblad... |
ORPHA:521219 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Abnormal renal glomerulus morpholo... |
OMIM:137940 |
| Netherton Syndrome |
|
Decreased circulating antibody level, Skin rash, Eczema, Erythroderma, Increased circulating IgE ... |
ORPHA:634 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis |
ORPHA:90368 |
| Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
| Cirrhosis, Familial |
|
Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Increased le... |
OMIM:215600 |
| Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hyperuricemia, Chronic active hepatitis, Elevated hepatic transamin... |
OMIM:203800 |
| Wilson Disease |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Jaundice... |
OMIM:277900 |
| Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level, Eczema |
OMIM:313900 |
| Systemic Sclerosis |
|
Osteomyelitis, Acute kidney injury, Arthritis, Abnormality of the kidney, Pericarditis, Glomerulo... |
ORPHA:90291 |
| Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Biliary cirrhosis, Decreased circulating antibody level, Increased ... |
ORPHA:289390 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Conjunctivitis, Atrophic gastritis, Decreased circulating total IgM, Bronchiectasis, Erythema nod... |
OMIM:614700 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Mode... |
OMIM:619525 |
| Caroli Syndrome |
|
Cirrhosis, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Cholangiocarcinoma, Chola... |
ORPHA:480520 |
| Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Anuria, Acute tubulointerstitial nephritis, Acute kidney injury, De... |
ORPHA:340 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria |
ORPHA:251004 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Pancreatic fib... |
OMIM:232220 |
| Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Hyperinsulinemic hypoglycemia, Pneumonia, Fasting hyperinsulinemia, Glucose in... |
ORPHA:2298 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Familial Mediterranean Fever |
|
Skin rash, Arthritis, Pancreatitis, Erysipelas, Pericarditis, Orchitis, Peritonitis, Splenomegaly... |
ORPHA:342 |
| Ebola Hemorrhagic Fever |
|
Hepatitis, Acute pancreatitis, Maculopapular exanthema, Increased circulating antibody level |
ORPHA:319218 |
| Citrullinemia Type Ii |
|
Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Pancreatitis |
ORPHA:247585 |
| Rheumatoid Arthritis |
|
Rheumatoid arthritis, Rheumatoid factor positive, Anti-citrullinated protein antibody positivity,... |
OMIM:180300 |
| Behçet Disease |
|
Endocarditis, Recurrent aphthous stomatitis, Arthritis, Keratoconjunctivitis sicca, Pancreatitis,... |
ORPHA:117 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Decreased circulating total IgM, Decreased lymphocyte proliferation in response to... |
ORPHA:331206 |
| Zygomycosis |
|
Endocarditis, Enterocolitis, Hepatitis, Fasciitis, Peritonitis, Nephritis, Pericarditis, Pustule,... |
ORPHA:73263 |
| Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Atopic dermat... |
ORPHA:331235 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
| Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
| Dysbetalipoproteinemia |
|
Hypothyroidism, Hepatic steatosis, Gout, Acute pancreatitis, Hepatomegaly |
ORPHA:412 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Chilblains, Hepatosplenomegaly, Hepatic steatosis, Pericarditis... |
OMIM:619487 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Jaundice, Neoplasm of the pancreas, Pancreatitis |
ORPHA:370348 |
| Lymphatic Filariasis |
|
Lymphadenitis, Nephrotic syndrome, Abnormality of the kidney, Hematuria, Epididymitis, Glomerulon... |
ORPHA:2035 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Abnormality of the gallbladder, Renal cell carcinoma, Biliary tract ne... |
ORPHA:2869 |
| Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Acute ... |
ORPHA:444490 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Biliary cirrhosis, Atrophic gastritis, Iridocyclitis, Hepatitis, Rh... |
ORPHA:227990 |
| Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Extrahepatic cholestasis, Biliary tract neoplasm, Biliary tract obstructio... |
ORPHA:100086 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Hepatitis, Elevated hepatic transaminase, Hyperammonemia, Hepatomegaly, Hyperorn... |
ORPHA:415 |
| Mccune-Albright Syndrome |
|
Increased circulating prolactin concentration, Hyperthyroidism, Increased circulating cortisol le... |
ORPHA:562 |
| Rift Valley Fever |
|
Hepatitis, Skin rash, Jaundice, Elevated hepatic transaminase, Uveitis, Increased circulating IgM... |
ORPHA:319251 |
| Coccidioidomycosis |
|
Osteomyelitis, Abnormality of the liver, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Mo... |
ORPHA:228123 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Jaundice, Hepatocell... |
ORPHA:231226 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Biliary cirrhosis, Atrophic gastritis, Iridocyclitis, Hepatitis, Rh... |
ORPHA:227982 |
| Subcorneal Pustular Dermatosis |
|
Pustule, Systemic lupus erythematosus, Autoimmunity, Rheumatoid arthritis |
ORPHA:48377 |
| Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
| Myasthenia Gravis |
|
Myositis, Hashimoto thyroiditis, Rheumatoid arthritis, Hepatitis |
ORPHA:589 |
| Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Panniculitis, Hepatomegaly |
ORPHA:79086 |
| Triploidy |
|
Abnormality of the pancreas, Abnormality of the gallbladder, Hypoplasia of penis, Hypospadias, He... |
ORPHA:3376 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Joint swelling, Anterior uv... |
ORPHA:85414 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Crohn's disease, Osteomyelitis, Decreased circulating total IgM, Bronchiectasis, Hepatitis, Skin ... |
OMIM:619381 |
| Glycogen Storage Disease Ia |
|
Gout, Hepatocellular carcinoma, Pancreatitis, Hepatomegaly |
OMIM:232200 |
| Cystic Fibrosis |
|
Biliary cirrhosis, Cirrhosis, Bronchiectasis, Chronic sinusitis, Hepatosplenomegaly, Recurrent pn... |
OMIM:219700 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enterocolitis, Decreased circulating antibody level, Interface hepatitis, Psoriasiform dermatitis... |
OMIM:243150 |
| Vacterl/Vater Association |
|
Abnormality of the pancreas, Multicystic kidney dysplasia, Abnormality of the gallbladder, Renal ... |
ORPHA:887 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Increased circulating IgE level, Chronic otitis media |
ORPHA:2314 |
| Igg4-Related Pachymeningitis |
|
Lymphadenitis, Nephritis, Sinusitis, Parotitis, Pancreatitis |
ORPHA:449427 |
| Immunodeficiency 97 With Autoinflammation |
|
Enterocolitis, Decreased circulating total IgM, Decreased circulating antibody level, Eczema, Rec... |
OMIM:619802 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Panhypogammaglobulinemia, Otitis media, Increased circulating IgE level |
OMIM:602450 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Atrophic gastritis, Chronic oral candidiasis, Keratoconjunctivitis, Iridocyclitis, Chro... |
OMIM:240300 |
| Thymic Aplasia |
|
Hypocalcemic tetany, Chronic oral candidiasis, Thyroiditis, Atypical or prolonged hepatitis, Sinu... |
ORPHA:83471 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Acute pancreatitis, Hepatic periportal necrosis, Hepatomegaly |
ORPHA:26791 |
| Genitopalatocardiac Syndrome |
|
Abnormality of the gallbladder, Hypospadias, Multicystic kidney dysplasia, Abnormality of mesente... |
ORPHA:2075 |
| Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Atrophic gastritis, Hepatitis, Skin rash, Arthritis, Chilblains, Increased cir... |
OMIM:615846 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Enterocolitis, Periodontitis, Thyroiditis, Hepatocellular carcinoma, Ulcerative c... |
ORPHA:79259 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hepatitis, Hyperkalemia, Hashimoto thyroiditis, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Atopic dermatitis |
ORPHA:2902 |
| Relapsing Polychondritis |
|
Conjunctivitis, Recurrent aphthous stomatitis, Scleritis, Hepatitis, Arthritis, Inflammatory abno... |
ORPHA:728 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Bronchiectasis, Sinusitis, Decreased circulating IgA level, Increased circulating IgM level, Pneu... |
OMIM:242860 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatic steatosis, Pancreatitis, Splenomegaly, Hepatomegaly |
ORPHA:280365 |
| Granulomatosis With Polyangiitis |
|
Prostatitis, Skin rash, Inflammatory abnormality of the eye, Pericarditis, Chronic otitis media, ... |
ORPHA:900 |
| Spondyloenchondrodysplasia |
|
Juvenile rheumatoid arthritis, Hepatitis, Arthritis, Skin rash, Pneumonia |
ORPHA:1855 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Decreased T cell activation, Perianal abscess, Eosinophilic infiltration of the esophagus, Pancol... |
OMIM:618213 |
| Chronic Mucocutaneous Candidiasis |
|
Hepatitis, Skin rash, Cheilitis |
ORPHA:1334 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Mucopolysaccharidosis Type 7 |
|
Hepatitis, Splenomegaly |
ORPHA:584 |
| Neurotrophic Keratopathy |
|
Allodynia, Anterior uveitis |
ORPHA:137596 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Idiopathic Hypereosinophilic Syndrome |
|
Erythroderma, Inflammatory abnormality of the skin, Arthritis, Pancreatitis, Eczema, Portal fibro... |
ORPHA:3260 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Glycogen Storage Disease Xii |
|
Elevated circulating alanine aminotransferase concentration, Hemoglobinuria, Jaundice, Cholecysti... |
OMIM:611881 |
| Cocaine Intoxication |
|
Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Glomerulonephritis, Colitis, Protei... |
ORPHA:90068 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormality of the pancreas, Skin rash, Jaundice, Elevated hepatic transaminase, Cholecystitis |
ORPHA:69665 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Prostatitis, Increased circulating antibody level, Increased ci... |
ORPHA:449432 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Bronchiectasis, Decreased circulating IgA level, Increased circulating IgM level, Decreased circu... |
OMIM:616005 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Enterocolitis, Bronchiectasis, Inflammatory abnormality of the skin, Hepatitis, Thyroiditis, Ecze... |
ORPHA:391487 |
| Fucosidosis |
|
Abnormality of the gallbladder, Mucopolysacchariduria, Hepatomegaly |
ORPHA:349 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Pancreatitis, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the skin |
ORPHA:565612 |
| Seckel Syndrome 10 |
|
Hepatic steatosis, Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated c... |
OMIM:617253 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hypothyroidism, Recurrent pancreatitis, Recurrent otitis media, Hepatomegaly, Cholelithiasis, Exo... |
OMIM:618268 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Listeriosis |
|
Endocarditis, Septic arthritis, Myocarditis, Conjunctivitis, Osteomyelitis, Infectious encephalit... |
ORPHA:533 |
| Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Optic neuritis, Myelitis, Herpes simplex encephalitis |
ORPHA:83597 |
| Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Eczema, Recurrent sinusiti... |
OMIM:301000 |
| Kawasaki Disease |
|
Conjunctivitis, Hepatitis, Skin rash, Jaundice, Arthritis, Pericarditis, Cholecystitis, Myocardit... |
ORPHA:2331 |
| Igg4-Related Ophthalmic Disease |
|
Retroperitoneal fibrosis, Prostatitis, Thyroiditis, Cholangitis, Sinusitis, Orchitis, Keratitis, ... |
ORPHA:449563 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Acute pancreatitis, Lipid accumulation in hepatocytes, Hepatomegaly |
ORPHA:20 |
| Hereditary Hemorrhagic Telangiectasia |
|
Hepatic failure, Cirrhosis, Hematuria, Cholecystitis, Portal hypertension, Nephrolithiasis, Chole... |
ORPHA:774 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Acute colitis, Pancreatitis |
ORPHA:90038 |
| Visceral Myopathy 1 |
|
Pancreatitis |
OMIM:155310 |
| Bardet-Biedl Syndrome 20 |
|
Pancreatitis |
