Hepatorenocardiac Degenerative Fibrosis |
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Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Insulin Autoimmune Syndrome |
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Increased circulating antibody level, Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia... |
ORPHA:411593 |
Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Immunodeficiency, Common Variable, 6 |
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Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Diabetes Mellitus, Ketosis-Prone |
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Insulin resistance, Autoimmunity, Diabetes mellitus |
OMIM:612227 |
Complement Component 4, Partial Deficiency Of |
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Systemic lupus erythematosus |
OMIM:120790 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Aa Amyloidosis |
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Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Malabsorption, Abnormality of the kidne... |
ORPHA:85445 |
Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
Nephronophthisis 16 |
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Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... |
OMIM:615382 |
Congenital Megacalycosis |
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Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Colonic Varices Without Portal Hypertension |
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Colonic varices, Intestinal bleeding |
OMIM:120440 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Autoimmune Lymphoproliferative Syndrome |
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Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... |
OMIM:601859 |
Nephronophthisis 2 |
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Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Hashimoto Thyroiditis |
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Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia |
OMIM:615415 |
Glycogen Storage Disease Ib |
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Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Immunoglobulin A Deficiency 2 |
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Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Anal atresia, Urethral atresia, Tracheoesophageal fistula, Enlarged kidney, Hydronephrosis |
OMIM:314390 |
Autosomal Dominant Polycystic Kidney Disease |
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Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Hypoplasia of the s... |
OMIM:200995 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
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Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Abnormal esophagus physiology, Dyspha... |
ORPHA:2198 |
Tyrosinemia, Type I |
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Melena, Hypophosphatemic rickets, Paralytic ileus, Hepatomegaly, Splenomegaly, Elevated alpha-fet... |
OMIM:276700 |
Renal Dysplasia |
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Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp... |
ORPHA:731 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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High palate, Hepatomegaly, Enlarged kidney, Elevated circulating creatinine concentration, Cardio... |
OMIM:608836 |
Mucopolysaccharidosis-Plus Syndrome |
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Nephrotic syndrome, Hepatomegaly, Nephritis, Macroglossia, Splenomegaly, Renal tubular atrophy, L... |
OMIM:617303 |
C1Q Deficiency |
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Systemic lupus erythematosus, Autoimmunity |
OMIM:613652 |
Immunoglobulin A Deficiency 1 |
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Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Immunodeficiency 64 |
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Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... |
OMIM:618534 |
Glycogen Storage Disease Ia |
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Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232200 |
Kaposiform Lymphangiomatosis |
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Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,... |
ORPHA:464329 |
Caspase 8 Deficiency |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607271 |
Igg4-Related Kidney Disease |
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Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... |
ORPHA:449395 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
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Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Reticular Dysgenesis |
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Lack of T cell function, Impaired T cell function |
OMIM:267500 |
H Syndrome |
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Histiocytosis, Malabsorption, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged... |
ORPHA:168569 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... |
ORPHA:251004 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... |
OMIM:603909 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, ... |
ORPHA:79259 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... |
OMIM:240500 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Autoimmunity, Lack ... |
ORPHA:277 |
Diaphanospondylodysostosis |
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Nephrogenic rest, Cleft palate, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidne... |
OMIM:608022 |
Type 1 Diabetes Mellitus |
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Autoimmunity, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Anal atresia, Cleft palate, Micropenis, Intestinal malrotation, Bifid tongue, Enlarged kidney, Ha... |
OMIM:613091 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Decreased specific pneumococcal antibody level, Autoimmunity |
OMIM:617006 |
Visceral Myopathy 2 |
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Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Recurrent gastroenteritis, Nephrotic syndrome, Macroglossia, Hepatosplenomegaly, Leukopenia, Hepa... |
ORPHA:505248 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
Gracile Bone Dysplasia |
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Hypocalcemia, Micropenis, Hypoplastic spleen, Ankyloglossia, Asplenia |
OMIM:602361 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... |
OMIM:619313 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity |
OMIM:607624 |
Leprechaunism |
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Hypokalemia, Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Increased circulating ren... |
ORPHA:508 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Autoimmune th... |
OMIM:300853 |
Mirage Syndrome |
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Lymphopenia, Gastroesophageal reflux, Hypospadias, Leukopenia, Recurrent urinary tract infections... |
OMIM:617053 |
Beckwith-Wiedemann Syndrome |
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Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Cleft palate, Enlarged kidney, C... |
ORPHA:116 |
Endocrine-Cerebroosteodysplasia |
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Cleft palate, Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus |
OMIM:612651 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
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Colonic diverticula, Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
Lymphoid Interstitial Pneumonia |
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Mediastinal lymphadenopathy, Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Beckwith-Wiedemann Syndrome |
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Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Macroglossia, Pancreatic hyp... |
OMIM:130650 |
Subcorneal Pustular Dermatosis |
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Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney |
ORPHA:276280 |
Heterotaxy, Visceral, 1, X-Linked |
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Posteriorly placed anus, Anal atresia, Duodenal atresia, Hepatomegaly, Biliary atresia, Renal age... |
OMIM:306955 |
Alg9-Cdg |
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Ureteral hypoplasia, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Hypoplasia of th... |
ORPHA:79328 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Dysphagia, Hypoplastic spleen |
ORPHA:89844 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... |
OMIM:617241 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Macroglossia, Splenomegaly, Increased serum beta-hexosaminidase, Enlarged kidney, M... |
OMIM:252500 |
Immunodeficiency 81 |
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Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k... |
OMIM:619374 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Acute colitis, Hypokalemia, Pancreatitis, Leukocytosis, Intussusception, Hemoglobinuria, Peritoni... |
ORPHA:90038 |
Meacham Syndrome |
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Accessory spleen, Horseshoe kidney, Enlarged kidney |
OMIM:608978 |
Pearson Syndrome |
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Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Glycosuria, Median cleft lip and pa... |
ORPHA:699 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Macroglossia, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney, Chroni... |
ORPHA:500095 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i... |
ORPHA:572 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Decreased circ... |
OMIM:615952 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Systemic lupus erythematosus, Increased circulat... |
ORPHA:2298 |
Bullous Pemphigoid |
|
Autoimmunity, Diabetes mellitus |
ORPHA:703 |
Nk-Cell Enteropathy |
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Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... |
ORPHA:263665 |
Ogden Syndrome |
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High palate, Global glomerulosclerosis, Narrow palate, Microvesicular hepatic steatosis, Hyperbil... |
OMIM:300855 |
Microphthalmia, Syndromic 9 |
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Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplastic spleen, Hydronephrosis, Pe... |
OMIM:601186 |
Cardiac-Urogenital Syndrome |
|
Micropenis, Intestinal malrotation, Accessory spleen, Hepatopulmonary fusion, Enlarged kidney, Pe... |
OMIM:618280 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Systemic lupus erythematosus, Autoimmunity, Anti-acetylcholine r... |
ORPHA:79480 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Anal atresia, Narrow palate, Hepatomegaly, Hepatoblastoma, Cleft palate, Splenomegaly, Macrogloss... |
OMIM:312870 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Primary Hyperoxaluria Type 1 |
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Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... |
ORPHA:93598 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Cholestatic liver disease, Elevated fecal osmolality, Abnormal large... |
ORPHA:92050 |
Systemic Sclerosis |
|
Chronic kidney disease, Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology... |
ORPHA:90291 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity |
ORPHA:231154 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
Sjogren Syndrome |
|
Rheumatoid arthritis, Autoimmunity |
OMIM:270150 |
Scleroderma |
|
Chronic kidney disease, Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology... |
ORPHA:801 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:179494 |
Autoimmune Polyendocrinopathy Type 4 |
|
Antiphospholipid antibody positivity, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimmu... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
|
Antiphospholipid antibody positivity, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimmu... |
ORPHA:227982 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Abnormality of B ce... |
OMIM:600802 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function, Autoimmunity |
ORPHA:1830 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
Fg Syndrome Type 1 |
|
High palate, Anal atresia, Malrotation of colon, Gastroesophageal reflux, Hypospadias, Pyloric st... |
ORPHA:93932 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Autoimmunity, Oligoclonal T cell expan... |
ORPHA:83471 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... |
OMIM:600903 |
Vici Syndrome |
|
Decreased T cell activation, Cutaneous anergy, Decreased circulating IgG level, Decreased circula... |
OMIM:242840 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... |
OMIM:301000 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Hamartomatous polyposis, Abnormal large intestine morphology, Narrow palate |
ORPHA:109 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... |
OMIM:618131 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Diabetes mellitus |
ORPHA:2237 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Decreased T cell activation, Increased circulating IgE level, Defective T cell proliferation, Inc... |
OMIM:618213 |
Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function, Diabetes mellitus |
OMIM:176690 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Autoimmunity |
ORPHA:567 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Abnormality of T cell physiology |
OMIM:181000 |
Digeorge Syndrome |
|
Impaired T cell function |
OMIM:188400 |