Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent tonsillitis, Renal insufficiency, Recurrent bacterial infections, Nephrotic syndrome, R... |
OMIM:613779 |
Systemic Lupus Erythematosus 16 |
|
Perinuclear antineutrophil antibody positivity, Anti-dsDNA antibody positivity, Lupus nephritis, ... |
OMIM:614420 |
Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Podocyte foot process ef... |
OMIM:615861 |
Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Renal insufficiency, Glomerulonephritis, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
C1Q Deficiency 1 |
|
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Recurrent i... |
OMIM:613652 |
C3 Glomerulopathy 3 |
|
Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea... |
OMIM:614809 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... |
OMIM:619201 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity, Increased ... |
OMIM:617006 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Glomerul... |
OMIM:619375 |
Focal Segmental Glomerulosclerosis 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... |
OMIM:256020 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Pneumonia |
OMIM:247800 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Actinic Prurigo |
|
Cheilitis, Glomerulonephritis, Pyoderma |
OMIM:174770 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Nephrotic Syndrome, Type 16 |
|
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent herpes, Recurrent skin infections, Recurrent Kl... |
OMIM:614372 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmunity, Hepatomegaly, Recurrent lower respiratory tract infections, Anticardiolipin IgG ant... |
OMIM:615559 |
Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney dise... |
OMIM:613496 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Nephrotic Syndrome, Type 7 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure... |
OMIM:615008 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Myeloma, Multiple |
|
Amyloidosis |
OMIM:254500 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Autoimmunity, Acute kidney injury, Anti-d... |
ORPHA:567544 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 chr... |
OMIM:617609 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Recurrent i... |
OMIM:613913 |
Systemic Lupus Erythematosus |
|
Malar rash, Leukopenia, Hemolytic anemia, Nephritis, Lupus nephritis, Arthritis, Thrombocytopenia... |
OMIM:152700 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent streptococcus pneumoniae infections, Glomerulonephr... |
OMIM:610984 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Complement Factor H Deficiency |
|
Chronic kidney disease, Thickened glomerular basement membrane, Recurrent bacterial infections, G... |
OMIM:609814 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Hepatic ste... |
OMIM:608709 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... |
OMIM:614196 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Hematuria, Glomerulonephritis |
OMIM:314000 |
Immunodeficiency 31A |
|
BCGitis, Recurrent mycobacterium avium complex infections, Recurrent viral infections, Herpes sim... |
OMIM:614892 |
C3 Glomerulopathy |
|
Proteinuria, Acute kidney injury, Autoimmunity, Stage 5 chronic kidney disease, Chronic kidney di... |
ORPHA:329918 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Necrotizing enterocoliti... |
OMIM:613860 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilic liver infiltration, Atopic dermatitis, Recurrent viral infection... |
OMIM:618999 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent bacterial infections, Recurrent staphylo... |
ORPHA:70592 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Amyloidosis |
OMIM:105250 |
Tn Polyagglutination Syndrome |
|
Autoimmunity, Abnormal erythrocyte morphology |
OMIM:300622 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphop... |
ORPHA:444463 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Autoinflammatory-Pancytopenia Syndrome |
|
Hepatosplenomegaly, Proteinuria, Cholestatic liver disease, Hemophagocytosis, Intestinal inflamma... |
OMIM:619858 |
Nephrotic Syndrome, Type 24 |
|
Podocyte foot process effacement, Focal segmental glomerulosclerosis, Renal cortical hyperechogen... |
OMIM:619263 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Generalized amyloid deposition |
OMIM:105120 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Maculopapular exanthema, Hemophagocytosis, Hemolytic-uremic syndrome, Extrapu... |
OMIM:619644 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Glomerulonephriti... |
ORPHA:2137 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Glomerulonephritis, Rheumatoid factor positive, Antineutrophil antibody posit... |
ORPHA:99931 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Generalized amyloid deposition |
OMIM:105150 |
Variant Abeta2M Amyloidosis |
|
Cutaneous amyloidosis, Renal amyloidosis, Cardiac amyloidosis, Hepatic amyloidosis, Amyloidosis o... |
ORPHA:314652 |
Cd8 Deficiency, Familial |
|
Bronchiectasis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral... |
OMIM:608957 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent viral infections,... |
OMIM:611521 |
Complement Component C1S Deficiency |
|
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis |
OMIM:613783 |
Complement Component C1R/C1S Deficiency |
|
Nephritis, Discoid lupus rash, Autoimmunity, Arthritis |
OMIM:216950 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Sple... |
OMIM:619437 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Proteinuria, Diffuse mesangial sclerosis, Chronic kidney disease, Stage 5 chronic ki... |
ORPHA:656 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Antinuclear antibody positivity, Mesangial hypercellularity, Arthritis, Crescentic glomerulonephr... |
OMIM:616414 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Anemia, Autoimmune thrombocytopenia, Neutropenia, Erythroderma, Severe infect... |
OMIM:304790 |
Amyloidosis, Familial Visceral |
|
Generalized amyloid deposition, Skin rash |
OMIM:105200 |
Idiopathic Trachyonychia |
|
Autoimmune thrombocytopenia, Atopic dermatitis, Amyloidosis |
ORPHA:79153 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:620049 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune thrombocytopenia, Recurrent infection of the gastrointestinal tract, Autoimmune hemoly... |
OMIM:608184 |
Acys Amyloidosis |
|
Cerebral amyloid angiopathy, Amyloidosis |
ORPHA:100008 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Autoimmunity, Inflammatory abnormality of the skin, Insulin receptor antib... |
ORPHA:37042 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Pgm3-Cdg |
|
Chronic otitis media, Chronic sinusitis, Autoimmunity, Hemolytic anemia, Decreased proportion of ... |
ORPHA:443811 |
Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Meningitis, Hepatomegaly, Recurrent bacterial infections, Follicular hyperplasia, R... |
OMIM:240500 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Proteinuria, Acute kidney injury, Diffuse mesangial sclerosis, Stage 5 chronic kidne... |
ORPHA:567548 |
Complement Factor B Deficiency |
|
Peritonitis, Meningitis, Recurrent bacterial infections, Pneumonia, Recurrent meningococcal disease |
OMIM:615561 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Abnormal l... |
OMIM:609529 |
Nephrotic Syndrome, Type 20 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:301028 |
Nephrotic Syndrome, Type 18 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618178 |
Q Fever |
|
Myocarditis, Maculopapular exanthema, Endocarditis, Lupus anticoagulant, Rheumatoid factor positi... |
ORPHA:781 |
Focal Segmental Glomerulosclerosis 8 |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Chronic rhinitis, Cutaneous macular amyloidosis, Amyloidosis |
OMIM:615225 |
Pauci-Immune Glomerulonephritis |
|
Microscopic hematuria, Cytoplasmic antineutrophil antibody positivity, Proteinuria, Glomeruloneph... |
ORPHA:93126 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Persistent CMV viremia, Aut... |
OMIM:618495 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Molluscum contagiosum, Rheumatoid factor posi... |
OMIM:615816 |
Periodic Fever, Familial, Autosomal Dominant |
|
Maculopapular exanthema, Oligoarthritis, Skin rash, Erysipelas, Myositis, Hepatic amyloidosis, Co... |
OMIM:142680 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Autoimmunity, Inflammatory abnormality of the skin, Absent tonsils, Lymphopenia, Recurrent otitis... |
ORPHA:277 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerulonephriti... |
OMIM:301006 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... |
OMIM:616730 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Inflammatory abnormality of the skin, Bacterial endoca... |
ORPHA:48435 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Hemolytic anemia, Leukemia,... |
OMIM:614470 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
Immunodeficiency 27B |
|
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections, Osteomyelit... |
OMIM:615978 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Rheumatoid factor positive, Hepatomegaly, Colitis, Gastritis, Decreased proportion ... |
ORPHA:3261 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Rheumatoid factor positive, Ureteropelvic junct... |
ORPHA:49041 |
Immunodeficiency 7 |
|
Hypereosinophilia, Recurrent respiratory infections, Autoimmunity, Autoimmune hemolytic anemia, H... |
OMIM:615387 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
BCGosis, Severe toxoplasmosis, Lymphadenitis, Coccidioidomycosis, Salmonella osteomyelitis, Recur... |
ORPHA:319552 |
Thymoma |
|
Glomerulonephritis, Autoimmunity, Aplastic anemia, Pure red cell aplasia, Leukemia, Anti-acetylch... |
ORPHA:99867 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, Sepsis, Autoimmune hemolytic ... |
ORPHA:231154 |
Alport Syndrome 3, Autosomal Dominant |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocal... |
OMIM:104200 |
Cystic Echinococcosis |
|
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re... |
ORPHA:400 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se... |
OMIM:603965 |
Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Autoimmunity, Meningitis... |
ORPHA:229717 |
Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Myocarditis, Severe infection, Severe varicella zoster infection, Severe viral infec... |
ORPHA:36234 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Colitis, Chronic oral candidiasis, Hepatosplenomegaly, Recurrent bacterial skin infections, Lymph... |
ORPHA:911 |
Schimke Immuno-Osseous Dysplasia |
|
Microscopic hematuria, Proteinuria, Decreased proportion of naive CD8 T cells, Autoimmunity, Stag... |
ORPHA:1830 |
Aa Amyloidosis |
|
Renal amyloidosis, Amyloidosis |
ORPHA:85445 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Recurrent viral infections, Hashimoto thyroiditis, Decreased proportion of CD3-posi... |
ORPHA:275 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614376 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... |
OMIM:618348 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... |
OMIM:615573 |
Eosinophilopenia |
|
Allergic rhinitis, Autoimmunity |
OMIM:131430 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... |
OMIM:310468 |
Lymphatic Filariasis |
|
Hypereosinophilia, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Knee osteoarthriti... |
ORPHA:2035 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Recurrent viral infections, Anemia, Recurrent bacterial infections, Lymphopenia, Th... |
ORPHA:169079 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic otitis media, Eczematoid dermatitis, Autoimmunity, Severe infection, Chronic oral candidi... |
ORPHA:83471 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Autoimmunity, Recurrent viral infections, Hemolytic anemia, Meningitis, Sep... |
ORPHA:169090 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... |
ORPHA:93109 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Persistent CMV viremia, Autoimmunity, Chronic lymphati... |
OMIM:616005 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Anemia, Tubul... |
OMIM:613092 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Proteinuria, Glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Hypospadias |
OMIM:619428 |
Selective Igm Deficiency |
|
Chronic sinusitis, Autoimmunity, Recurrent shingles, Decreased proportion of CD3-positive T cells... |
ORPHA:331235 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Decreased glomerular filtration rate, Hyperlysinuria, Hemophagocytosis, Argininur... |
ORPHA:470 |
Igg4-Related Kidney Disease |
|
Chronic sinusitis, Inflammatory abnormality of the skin, Enlarged kidney, Rheumatoid factor posit... |
ORPHA:449395 |
Familial Mediterranean Fever |
|
Peritonitis, Orchitis, Renal amyloidosis, Erysipelas, Arthritis, Amyloidosis, Crohn's disease, Pe... |
OMIM:249100 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:614377 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Leukocytosis, Polycythemia, Chronic oral candidiasis, Recurrent fungal infections, P... |
ORPHA:2968 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmunity, Recurrent herpes, Recurrent fungal infections, Decreased proportion of CD4-positive... |
ORPHA:572 |
Simple Cryoglobulinemia |
|
Microscopic hematuria, Proteinuria, Abnormality of the kidney, Chronic lymphatic leukemia, Rheuma... |
ORPHA:91139 |
Felty Syndrome |
|
Chronic otitis media, Autoimmunity, Hepatomegaly, Episcleritis, Synovitis, Recurrent infections, ... |
ORPHA:47612 |
Brucellosis |
|
Myocarditis, Leukocytosis, Rheumatoid factor positive, Hepatomegaly, Intrarenal abscess, Sacroili... |
ORPHA:1304 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... |
OMIM:614650 |
Lymphoproliferative Syndrome 1 |
|
Autoimmunity, Leukopenia, Stomatitis, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic a... |
OMIM:613011 |
Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmunity, Anemia, Skin rash, Autoimmune thrombocytopenia, A... |
ORPHA:100026 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Renal insufficiency, Membranoproliferative glomerulonephritis, Abnormal r... |
OMIM:137940 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Autoimmunity, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:56425 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Autoimmunity, Skin rash, Juvenile rheumatoid arthritis, Hepatomegaly, Lymphadenopathy, Anterior u... |
ORPHA:85414 |
Aapoaiv Amyloidosis |
|
Renal amyloidosis, Cardiac amyloidosis, Renal interstitial amyloid deposits, Cutaneous amyloidosis |
ORPHA:439232 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Recurrent pneumonia, Colitis, Cutaneous amyloidosis |
OMIM:301220 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Amyloidosis |
OMIM:105210 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Recurrent upper and lower respiratory tract infections, Abnormal B cell count... |
ORPHA:331206 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Liver abscess, Granulomatosis, Impaired oxid... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Liver abscess, Granulomatosis, Impaired oxid... |
OMIM:233710 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic sinusitis, Autoimmunity, Recurrent shingles, Recurrent lower respiratory tract infections... |
ORPHA:183675 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Systemic Sclerosis |
|
Myocarditis, Proteinuria, Glomerulonephritis, Anti-centromere antibody positivity, Acute kidney i... |
ORPHA:90291 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Proteinuria, Enlarged kidney, Macroscopic hematuria, Membranoprolifera... |
ORPHA:251004 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Jaundice, Autoimmunity, Chronic lymphatic leukemia, Autoimmune hemolytic ... |
ORPHA:90033 |
Primary Sjögren Syndrome |
|
Abnormality of the kidney, Chronic hepatitis, Chronic active hepatitis, Keratoconjunctivitis sicc... |
ORPHA:289390 |
Primary Sclerosing Cholangitis |
|
Autoimmunity, Pancreatitis, Uveitis, Ulcerative colitis, Hepatitis, Amyloidosis, Thyroiditis |
ORPHA:171 |
Hemorrhagic Fever-Renal Syndrome |
|
Proteinuria, Glomerulonephritis, Acute kidney injury, Decreased urine output, Chronic kidney dise... |
ORPHA:340 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Rheumatoid arthritis |
OMIM:270150 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Autoimmunity, Hemophagocytosis, Anemia, Pancytopenia, Splenomegaly, Panniculitis |
OMIM:618398 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Chronic kidney disease, Macroscopic hematu... |
ORPHA:567546 |
Pemphigus Erythematosus |
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Malar rash, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythem... |
ORPHA:79480 |
Familial Mediterranean Fever, Autosomal Dominant |
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Renal amyloidosis, Erysipelas, Peritonitis |
OMIM:134610 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Amyloidosis |
ORPHA:98849 |
Familial Cold Autoinflammatory Syndrome 1 |
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Skin rash, Renal amyloidosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
Goodpasture Syndrome |
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Glomerular crescent formation, Proteinuria, Cytoplasmic antineutrophil antibody positivity, Glome... |
OMIM:233450 |
Autoimmune Polyendocrinopathy Type 4 |
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Thymoma, Autoimmunity, Leukopenia, Tubulointerstitial nephritis, Aplasia/Hypoplasia of the spleen... |
ORPHA:227990 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Anem... |
OMIM:174000 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Microscopic hematuria, Anemia, Bile duct proliferation, Moderate albuminuria, Prolonged neonatal ... |
OMIM:619525 |
Nail-Patella Syndrome |
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Proteinuria, Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Hematuria |
OMIM:161200 |
Autoimmune Polyendocrinopathy Type 3 |
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Thymoma, Autoimmunity, Leukopenia, Tubulointerstitial nephritis, Aplasia/Hypoplasia of the spleen... |
ORPHA:227982 |
Muckle-Wells Syndrome |
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Renal amyloidosis, Recurrent aphthous stomatitis, Maculopapular exanthema, Conjunctivitis |
OMIM:191900 |
Cocaine Intoxication |
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Proteinuria, Glomerulonephritis, Acute kidney injury, Tubulointerstitial nephritis, Colitis, Hema... |
ORPHA:90068 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Gastrointestinal inflammation, Glomerulonephritis, Chronic kidney disease, Anemia, Renal amyloido... |
ORPHA:79408 |
Multiple Endocrine Neoplasia, Type Iia |
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Cutaneous lichen amyloidosis |
OMIM:171400 |
Muckle-Wells Syndrome |
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Skin rash, Renal amyloidosis, Recurrent aphthous stomatitis, Uveitis, Arthritis, Episcleritis, Co... |
ORPHA:575 |
Inherited Creutzfeldt-Jakob Disease |
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Amyloidosis of peripheral nerves |
ORPHA:282166 |
Alström Syndrome |
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Urinary retention, Hepatomegaly, Hepatosplenomegaly, Recurrent urinary tract infections, Micropen... |
ORPHA:64 |
Multiple Endocrine Neoplasia Type 2 |
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Cutaneous lichen amyloidosis |
ORPHA:653 |
Attrv122I Amyloidosis |
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Cardiac amyloidosis |
ORPHA:85451 |