Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... |
ORPHA:2134 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
Complement Factor H Deficiency |
|
Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Depletion of component... |
OMIM:609814 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... |
OMIM:608709 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level |
OMIM:235900 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... |
OMIM:613913 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
OMIM:610163 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria |
ORPHA:163693 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria |
ORPHA:419 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon... |
OMIM:603233 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... |
OMIM:615008 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th... |
OMIM:619155 |
Hydroxyprolinemia |
|
Hydroxyprolinemia, Microscopic hematuria |
OMIM:237000 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacem... |
OMIM:617006 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased circulating IgG level, Increased circulating IgA level, Splenomegaly, Hepatosplenomegal... |
OMIM:618534 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Mono... |
ORPHA:91139 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Increased circulating antibody ... |
ORPHA:100024 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive |
ORPHA:172 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Neoplasm of the liver |
ORPHA:69077 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Decreased circulating complement C3 concentration, Microscopic hemat... |
ORPHA:79087 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... |
OMIM:613493 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, In... |
OMIM:308230 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai... |
OMIM:239199 |
Transcobalamin Deficiency |
|
Methylmalonic aciduria, Decreased circulating antibody level, Decreased circulating total IgM, De... |
ORPHA:859 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Failure to thrive, Hypourice... |
ORPHA:411634 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Glomerulonephritis |
OMIM:247800 |
Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Nephrolithiasis, Cystinuria, Hypocalcemia,... |
OMIM:606407 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic ... |
ORPHA:97362 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:613502 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Hypocalcemia, Dysgammaglobulinemia |
ORPHA:100025 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Proteinuria, Macronodular cirrhosis, Nephrotic syndrome, Mucopolysacch... |
OMIM:215250 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP res... |
ORPHA:94090 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria |
ORPHA:79238 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,... |
ORPHA:276621 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Cr... |
OMIM:123550 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Preeclampsia |
|
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... |
ORPHA:275555 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Nephroblastoma, Weight loss |
ORPHA:654 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased... |
OMIM:618048 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine... |
OMIM:614455 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In... |
OMIM:620010 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... |
ORPHA:3467 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Decreased circulating antibody level, Weight loss, Decreased circulating tot... |
ORPHA:90362 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:613500 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Nep... |
OMIM:603909 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:42 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Decreased body weight, Proteinuria, Abnormality of body... |
ORPHA:2298 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Severe Combined Immunodeficiency, X-Linked |
|
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... |
OMIM:300400 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... |
OMIM:618347 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Papillary renal c... |
OMIM:145001 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, Elevated circulatin... |
OMIM:614034 |
Pseudohypoparathyroidism, Type Ic |
|
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon... |
OMIM:612462 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria |
OMIM:120433 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:375 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Cryptorchidism, Splenomeg... |
OMIM:618440 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Hepatosplenomegaly, Increased c... |
ORPHA:169154 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Nephropathy, Nephrolithiasis |
ORPHA:2196 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:614652 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir... |
OMIM:618944 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidemia, Increased hepatic glycogen ... |
ORPHA:369 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypospadias, Small for gestational age, Cryptorchidism, Patent ductus arterios... |
OMIM:607143 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Decreased cir... |
ORPHA:90060 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,... |
ORPHA:29072 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... |
OMIM:308940 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalc... |
ORPHA:36913 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... |
OMIM:617388 |
Majeed Syndrome |
|
Glomerulopathy, Hepatomegaly, Proteinuria, Microscopic hematuria, Cachexia, Splenomegaly, Weight ... |
ORPHA:77297 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Hem... |
OMIM:232800 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Abnormal circula... |
OMIM:241600 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:612692 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr... |
ORPHA:48435 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia |
ORPHA:94086 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
X-Linked Agammaglobulinemia |
|
Hepatitis, Weight loss, Agammaglobulinemia, Hypocalcemia, Failure to thrive |
ORPHA:47 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Circulating immu... |
ORPHA:91138 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Nephropathy, Hypocalcemia |
ORPHA:2238 |
Galactosemia I |
|
Hepatomegaly, Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosuria, ... |
OMIM:230400 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Increased circulating antibody level, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Jaundice, Nephroc... |
OMIM:613404 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Refractory Celiac Disease |
|
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia, Ab... |
ORPHA:398063 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Orotic Aciduria |
|
Orotic acid crystalluria, Impaired T cell function, Oroticaciduria, Hematuria, Failure to thrive |
OMIM:258900 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Cholestatic liver dise... |
OMIM:619858 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Decreas... |
OMIM:617744 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypocalcemia, Secondary hyperparathyroidism, Hypophosphatemia, Failure... |
OMIM:264700 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria |
OMIM:245900 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... |
ORPHA:63 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Glanzmann Thrombasthenia |
|
Impaired thrombin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... |
ORPHA:849 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism |
OMIM:203330 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Proteinuria, Small for gestational age, Impaired T cell function, Minimal chan... |
ORPHA:1830 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... |
ORPHA:251004 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia, Splenomegaly, Increased circulating IgE level, Abnormal b... |
ORPHA:37042 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Nephropathy, Renal insufficiency, Hypocalcemia |
ORPHA:1563 |
Cystinuria |
|
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia |
ORPHA:214 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Patent ductus arteriosus |
ORPHA:2123 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Nephrocalc... |
OMIM:616026 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Crypt... |
OMIM:617575 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Adrenocorticotropic hormone excess, Weight loss |
ORPHA:100083 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Patent ductus arteriosus, Hypoalbuminemia, Small for gestational age |
OMIM:617021 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis, Failure to thrive |
OMIM:602361 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thicken... |
OMIM:146255 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Splenomegaly, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... |
OMIM:619824 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... |
OMIM:145980 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... |
OMIM:618969 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria |
ORPHA:1473 |
Renpenning Syndrome |
|
Hypospadias, Decreased testicular size, Cachexia |
ORPHA:3242 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria |
ORPHA:225 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Frasier Syndrome |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... |
OMIM:136680 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Nocturia, Weight loss |
ORPHA:178029 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Failure to thrive, Increased circulating IgA level |
OMIM:616395 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Decreased circulating antibody leve... |
OMIM:618183 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia |
OMIM:175500 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... |
ORPHA:73224 |
Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of the ureter, Cachexia |
ORPHA:1133 |
Angiostrongyliasis |
|
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Failure to thrive in infancy, Elevated circulating C-reactive pr... |
OMIM:617099 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Hematuria, Bon... |
ORPHA:549 |
Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Obesity, Hyperuri... |
ORPHA:261222 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... |
ORPHA:449400 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper... |
OMIM:239200 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Increased circulating IgA level |
ORPHA:555905 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Abnormality of T cell physiology, Unila... |
ORPHA:2237 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgG level, Failure to thrive, Elevated circulating C-reactive protein conce... |
OMIM:615934 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Intrahepatic cholestasis, ... |
OMIM:227810 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Hypokalemia, Am... |
ORPHA:213 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pituitary null cell adenoma, Hypercalcemia, Pancreatic islet cell adenom... |
ORPHA:97289 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circ... |
ORPHA:98813 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Decreased circulating total IgM, Defective T cell proliferation, De... |
OMIM:619774 |
Castleman Disease |
|
Renal insufficiency, Increased circulating interleukin 6 concentration, Elevated circulating C-re... |
ORPHA:160 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemia, Secondary hyperparathyroidism, Hypophosphatemia, Failure... |
ORPHA:289157 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619281 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Jaundice, Elevated circulating creatinine ... |
ORPHA:91547 |
Attrv30M Amyloidosis |
|
Nephropathy, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Hype... |
ORPHA:94089 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Cryptorchidism... |
OMIM:614732 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... |
OMIM:615513 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hyperphosphatemia, Hypocal... |
OMIM:241410 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to unconjugated pn... |
OMIM:240500 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Increased circulating IgA level, Increased circulating ... |
ORPHA:443811 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Functional abnormality of the bladder, Decreased circulating IgA level |
DECIPHER:45 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Recurrent urinary tract infections, Elevated circulating C-reactive protein concent... |
OMIM:615559 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... |
ORPHA:284426 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Jaundice, Bi... |
ORPHA:186 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Renal insufficiency, Glomerulonephritis, Increased circulating IgA level, Hypersple... |
ORPHA:3261 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Compleme... |
ORPHA:36412 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Incr... |
ORPHA:26793 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Hypocalcemia, Micropenis... |
OMIM:235255 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis, Hyperalaninemia |
ORPHA:298 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Hematuria, Increased circulating antibody... |
ORPHA:77259 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyuria,... |
OMIM:601678 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Nephrotic syndrome |
ORPHA:834 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... |
OMIM:617913 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ... |
OMIM:274150 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... |
ORPHA:31824 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Cryptorchidism |
ORPHA:1192 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... |
ORPHA:93552 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Abnormal renal morphology, Pancreatic lymphangiectasi... |
ORPHA:1655 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S... |
OMIM:301050 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hyperma... |
ORPHA:358 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Decreased response to growth hormone stimulation test, Reduced circulating prolactin ... |
ORPHA:79444 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:241500 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Glomerulo... |
ORPHA:2260 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas... |
OMIM:617241 |
Celiac Disease, Susceptibility To, 1 |
|
Weight loss, Failure to thrive, Hypocalcemia, Decreased circulating IgA level |
OMIM:212750 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... |
ORPHA:79078 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... |
ORPHA:1018 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Abno... |
ORPHA:400 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Increased circulating gonadotropi... |
ORPHA:347 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614069 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Acute pancrea... |
OMIM:619487 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... |
ORPHA:64744 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... |
OMIM:619377 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... |
ORPHA:31826 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss |
ORPHA:1979 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Splenomegaly, Hepatosplenomegaly, Renal angiomyolipoma, Increase... |
OMIM:260920 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentrati... |
ORPHA:263455 |
Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... |
ORPHA:85443 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria |
ORPHA:428 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Peritonitis, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Hematuria, ... |
OMIM:232240 |
Immunodeficiency 27A |
|
Splenomegaly, Hepatosplenomegaly, Weight loss, Increased circulating IgG level, Increased circula... |
OMIM:209950 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Weight loss, Hematuria, Tubulointerstitial neph... |
ORPHA:183 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Proteinuria, Glomerulonephritis, Chron... |
ORPHA:340 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Failure to thrive |
ORPHA:217346 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin... |
OMIM:614376 |
Pseudohypoparathyroidism, Type Ia |
|
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Low urinary cyclic AMP response to PTH admi... |
OMIM:103580 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level |
ORPHA:343 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Hypersplenism, Microvesicular h... |
ORPHA:275761 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Increased circulating IgE level |
OMIM:615767 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Urachal Cyst |
|
Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Urachus fistula, Peritoni... |
ORPHA:488 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni... |
ORPHA:2323 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Hematuria, Hepatosplenomegaly, Abnormality of... |
ORPHA:781 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... |
ORPHA:143 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Decreased response to growth hormone stimulation test, Reduced circulating prolactin ... |
ORPHA:79443 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Osteopetrosis, Autosomal Recessive 1 |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Hypocalcemia |
OMIM:259700 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:2930 |
Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Abnormality of the bladder |
ORPHA:1839 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:618394 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Decreased circulating antibody level |
ORPHA:33355 |
Klippel-Trénaunay Syndrome |
|
Hematuria, Hepatomegaly, Patent ductus arteriosus |
ORPHA:90308 |
Intermediate Osteopetrosis |
|
Hypocalcemia, Hepatosplenomegaly |
ORPHA:210110 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Wolman Disease |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:75233 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Hypospadias, Cachexia, Cryptorchidism, Obesity, Abnormality of the ... |
ORPHA:813 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Methylmalonic aciduria, Decreased circulating tota... |
OMIM:275350 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis... |
ORPHA:2785 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... |
ORPHA:90003 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:86893 |
Stormorken Syndrome |
|
Hematuria, Hypoplastic spleen, Elevated circulating creatine kinase concentration, Asplenia |
OMIM:185070 |
Ddost-Cdg |
|
Hepatic steatosis, Failure to thrive, Nephrotic range proteinuria |
ORPHA:300536 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
Ruvalcaba Syndrome |
|
Hematuria, Cryptorchidism, Abnormal localization of kidney |
ORPHA:3121 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Increased circulating interleukin 6 concentration, Anuria, Pancreatitis, Hyperkalem... |
ORPHA:544482 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Abnormal immunoglobulin level, Bilat... |
OMIM:242900 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Micronodular cirrhosis, Proteinuria |
OMIM:192315 |
Papa Syndrome |
|
Increased circulating antibody level, Proteinuria |
ORPHA:69126 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Timothy Syndrome |
|
Patent ductus arteriosus, Hypocalcemia |
OMIM:601005 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea... |
ORPHA:746 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Acute Promyelocytic Leukemia |
|
Hematuria, Weight loss |
ORPHA:520 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Increased circulating IgM leve... |
OMIM:617303 |
Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of the pancreas, Decreased circulating antibody level, Mucopolysacchari... |
ORPHA:175 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Mastocytosis, Weight loss |
ORPHA:66661 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Circulating immune complexe... |
ORPHA:2035 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Renal phosphate wasting, Hypophospha... |
OMIM:612089 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
OMIM:220110 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... |
OMIM:607426 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Failure to thrive, Hypocalcemia |
ORPHA:3426 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Peritonitis, Oliguria, Hematuria, Pancreatitis |
ORPHA:727 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, H... |
ORPHA:60025 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic... |
OMIM:619991 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly |
ORPHA:824 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level |
OMIM:617638 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, ... |
ORPHA:54251 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia |
ORPHA:300605 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, Failure to thrive secondary ... |
ORPHA:169160 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperkalemia |
ORPHA:57 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Increased circulating IgG level, ... |
OMIM:618495 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... |
ORPHA:65682 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Weight loss, Hypoalbuminemia, Increased circulating antibody level |
ORPHA:507 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:619510 |
Giant Cell Arteritis |
|
Hematuria, Renal insufficiency, Weight loss |
ORPHA:397 |
X-Linked Intellectual Disability, Cabezas Type |
|
Decreased testicular size, Hypoplasia of penis, Obesity, Cachexia |
ORPHA:85293 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Microscopic hematuria |
ORPHA:86818 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Splenomegaly, Increa... |
OMIM:256550 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium... |
ORPHA:95409 |
Wiskott-Aldrich Syndrome |
|
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Failure to thrive, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopath... |
OMIM:212065 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Fo... |
OMIM:232220 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228305 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp... |
OMIM:156400 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill... |
OMIM:308240 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Cachexia |
ORPHA:52503 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Splenic infarction, Hematuria, Choleli... |
OMIM:603903 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... |
ORPHA:411629 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad... |
ORPHA:79403 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... |
OMIM:619752 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Malakoplakia |
|
Proteinuria, Dysuria, Orchitis, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary... |
ORPHA:556 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise... |
OMIM:201475 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Hypophosphatasia |
|
Failure to thrive in infancy, Hypercalcemia |
ORPHA:436 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Small for gestational age, Hyperphosphatemia, Hyp... |
OMIM:127000 |
Hemophilia B |
|
Hematuria |
ORPHA:98879 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Hepatic steatosis, Hepatic necrosis |
OMIM:231530 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Hypercalciuria... |
ORPHA:369837 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... |
OMIM:232200 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Hyperammonemia, Weight loss |
ORPHA:79242 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Aminoaciduria, Proteinuria |
OMIM:603585 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Decreased circulating copper con... |
OMIM:300972 |
Pheochromocytoma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery... |
OMIM:171300 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Mild proteinuria, Hyper... |
OMIM:619147 |
Spondyloenchondrodysplasia |
|
Proteinuria, Decreased response to growth hormone stimulation test, Chronic kidney disease, Hepat... |
ORPHA:1855 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Decreased circulating antibody level, Hepatospleno... |
ORPHA:331206 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypoammonemi... |
ORPHA:534 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:264580 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increased circulatin... |
OMIM:256040 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly |
ORPHA:3452 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Increased circulating antibody level |
ORPHA:77261 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:616100 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... |
ORPHA:488627 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Increased circulating IgE level, Abnormality of the ureter, ... |
ORPHA:3409 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hepatic steatosis, Recurrent urinary tract infections, Small for gestational age, Portal hyperten... |
OMIM:613658 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, Hydronep... |
OMIM:300712 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Weight loss |
ORPHA:545 |
Prolidase Deficiency |
|
Hepatomegaly, Hyperimidodipeptiduria, Splenomegaly, Increased circulating antibody level, Prolong... |
OMIM:170100 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... |
ORPHA:99880 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Absent specific antibody response, Failure to thrive, Hepatomegaly, ... |
OMIM:102700 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
Rift Valley Fever |
|
Jaundice, Hepatitis, Hematuria, Increased circulating IgG level, Increased circulating IgM level |
ORPHA:319251 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Oliguria, Weight loss, Pancreatitis, Abnormal renal tubule morphology |
ORPHA:188 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato... |
OMIM:277900 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:614878 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Hennekam Syndrome |
|
Ectopic kidney, Splenomegaly, Horseshoe kidney, Decreased circulating antibody level, Hypocalcemia |
ORPHA:2136 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... |
ORPHA:2614 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal immunoglobulin level, Jaundice, Increased... |
ORPHA:276 |
Autoimmune Hepatitis |
|
Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis... |
ORPHA:2137 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... |
ORPHA:171876 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d... |
OMIM:218330 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, Hyperbil... |
ORPHA:163979 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level... |
ORPHA:397596 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Cryptorchidism, Hyperkalemi... |
ORPHA:361 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Polyarteritis Nodosa |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Microsporidiosis |
|
Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Urethriti... |
ORPHA:2552 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Urin... |
ORPHA:2126 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hypokalemia, Weight loss |
OMIM:188580 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Failure to thrive, Increased circulating IgE level, Lack of T ce... |
ORPHA:277 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hematuria |
ORPHA:79 |
Chronic Mucocutaneous Candidiasis |
|
Hematuria, Recurrent urinary tract infections, Hepatitis |
ORPHA:1334 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Glycogen Storage Disease Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Alg12-Cdg |
|
Hyponatremia, Hypospadias, Partial absence of specific antibody response to Haemophilus influenza... |
ORPHA:79324 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Increased circulating IgE level |
OMIM:616069 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Adrenocorticotropic hormone deficiency, Increased body weight, ... |
ORPHA:1501 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypospadias, Impaired T cell function, Cryptorchidism, Splenomegaly, Patent d... |
ORPHA:567 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:42642 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria |
OMIM:618886 |
Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent urinary tract infections, Hypertriglyceridemia, Increased circulating ferritin concentr... |
OMIM:619802 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... |
ORPHA:99885 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Aplasia of the thymus, Atypical or prolonged hepatitis, Decre... |
ORPHA:83471 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Hematuria, Decreased circulating complement C3 concentratio... |
ORPHA:536 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Thymoma |
|
Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Weight los... |
ORPHA:99867 |
Congenital Factor V Deficiency |
|
Hematuria |
ORPHA:326 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss |
ORPHA:50251 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria |
ORPHA:853 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Hypokalemia, Weight loss |
OMIM:613239 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper... |
OMIM:208500 |
Immunodeficiency 92 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... |
OMIM:619652 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, He... |
OMIM:194380 |
Addison Disease |
|
Hyponatremia, Hypoparathyroidism, Primary testicular failure, Hypercalcemia, Renal salt wasting, ... |
ORPHA:85138 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Large for gestational age, Cryptorchidism, Hypospadias, Decreased circulating IgA level |
ORPHA:457485 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney |
ORPHA:2591 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... |
ORPHA:284 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Hepatosplenomegaly, In... |
ORPHA:505248 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Increased circulating IgG4 level, Cholangitis, Re... |
ORPHA:449432 |
Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux, Weight loss |
ORPHA:3208 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Hypercalcemia, Pituitary adenoma, Adrenocorticotropic hormone d... |
ORPHA:199299 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... |
ORPHA:913 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level |
OMIM:212050 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the ureter, Nephroli... |
ORPHA:800 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Impaired T cell function, Unilateral ... |
OMIM:188400 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:26790 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced... |
ORPHA:274 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cholelithiasis |
ORPHA:774 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Abnormality of complement sy... |
ORPHA:79086 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:275 |
Trisomy 18 |
|
Cachexia, Hydronephrosis, Abnormality of the upper urinary tract, Cryptorchidism |
ORPHA:3380 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ... |
ORPHA:324 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated crea... |
OMIM:251900 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Decreased lymphocyte apoptosis, Increased circulating antibody level |
OMIM:614470 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Weight loss |
ORPHA:391 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:615758 |
Immunoglobulin A Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Hematuria |
ORPHA:761 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Bilateral cryptorchidism, Intrahepatic cholestasis, Mild proteinuria, Increased serum bile acid c... |
OMIM:619685 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Hypocalcemia, Impaired T cell function |
OMIM:192430 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Mildly elevated creatine kinase |
ORPHA:171442 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia |
ORPHA:713 |
Chilblain Lupus |
|
Increased circulating antibody level |
ORPHA:90280 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Failure to thrive, Decreased circulating IgA level |
OMIM:242860 |
Congenital Factor Ii Deficiency |
|
Microscopic hematuria |
ORPHA:325 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Nephrot... |
OMIM:251300 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, ... |
ORPHA:319213 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, Weight loss, Cirrhosis, A... |
ORPHA:905 |
Moderate Hemophilia A |
|
Hematuria |
ORPHA:169805 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Weight loss |
ORPHA:35858 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97278 |
Autoerythrocyte Sensitization Syndrome |
|
Hematuria, Impaired platelet adhesion |
ORPHA:324636 |
Cockayne Syndrome |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... |
ORPHA:191 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulating creatinine concentra... |
ORPHA:247691 |
Immunodeficiency 36 With Lymphoproliferation |
|
Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:616005 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Increased circulating IgE level, Glomerulonephritis, Hepatitis |
OMIM:304790 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaund... |
OMIM:300908 |
Gaucher Disease |
|
Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentration, Splenomegaly, H... |
ORPHA:355 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Patent ductus arteriosus, Failure to thrive, Weight loss |
ORPHA:1842 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In... |
ORPHA:86816 |
Netherton Syndrome |
|
Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Aminoacidu... |
ORPHA:634 |
Riddle Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Enuresis nocturna, Weight loss, Decreased c... |
ORPHA:420741 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Decreased circulating IgA level |
OMIM:618282 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, ... |
ORPHA:79259 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Hypercalcemia |
OMIM:602080 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Bilateral cryptorchidism, Obesity, Hypercholesterolemia, Micropenis, Pancreatitis |
OMIM:619471 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive in infancy, Decreased lymphocyte proliferation in response to anti-CD3, Increas... |
OMIM:606367 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Proteinuria, Elevated circulating creatine kinase concentration... |
ORPHA:99827 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Increased circul... |
ORPHA:465508 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Large for gestational age, Decreased circulating IgA level |
OMIM:616638 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Hepatitis, Weight loss, Tubulointerstitial nephritis, Nephrotic syndrome |
ORPHA:139402 |
Amme Complex |
|
Hematuria |
OMIM:300194 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:436159 |
Fabry Disease |
|
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria |
OMIM:301500 |
Fatal Familial Insomnia |
|
Urinary retention, Weight loss |
OMIM:600072 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97282 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Tubulo... |
ORPHA:33001 |
Ohdo Syndrome |
|
Cryptorchidism, Proteinuria |
OMIM:249620 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Congenital Factor X Deficiency |
|
Hematuria, Hemoperitoneum |
ORPHA:328 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Thyroid C cell hyperplasia, Elevated urinary... |
ORPHA:653 |
Graves Disease, Susceptibility To, 1 |
|
Goiter, Weight loss |
OMIM:275000 |
Wagro Syndrome |
|
Decreased testicular size, Nephroblastoma, Proteinuria, Obesity |
OMIM:612469 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Monosomy 13Q34 |
|
Fetal pyelectasis, Hepatic steatosis, Hypercalcemia, Obesity |
ORPHA:96168 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97283 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... |
ORPHA:276152 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Acquired Von Willebrand Syndrome |
|
Hematuria |
ORPHA:99147 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97261 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Failure to thrive, Hypercalcemia |
ORPHA:476126 |
Boutonneuse Fever |
|
Increased circulating IgG level, Renal insufficiency, Increased circulating IgM level |
ORPHA:83313 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Huntington Disease |
|
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss |
ORPHA:399 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria,... |
OMIM:619525 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... |
ORPHA:79102 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Patent ductus arterio... |
OMIM:214100 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgG level, Decreased circulating total IgM, Failure to thrive, Decreased te... |
OMIM:620040 |
Mevalonic Aciduria |
|
Failure to thrive in infancy, Elevated circulating creatine kinase concentration, Elevated circul... |
OMIM:610377 |
Severe Hemophilia A |
|
Macroscopic hematuria |
ORPHA:169802 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Splenomegaly, Weight loss, Hepatosplenomegaly, Unconjugated hyperbilir... |
OMIM:613673 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Mucoepithelial Dysplasia, Hereditary |
|
Hematuria |
OMIM:158310 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Weight loss |
ORPHA:514 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Jaundice, Chronic kidney... |
ORPHA:447 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Hep... |
OMIM:613385 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... |
ORPHA:90038 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level |
OMIM:618523 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Hemoglo... |
OMIM:611881 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Splenomegaly, Decreased circulating total IgM, Decreased specifi... |
OMIM:614700 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Increased blood urea nitrogen, Fa... |
ORPHA:90321 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Hypocalcemia |
ORPHA:2306 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hyperammonemia, Weight loss, Hyperuricemia |
ORPHA:134 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Renal insufficiency, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcin... |
ORPHA:171 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Lipid accumulation in hepatocytes, Hyperam... |
ORPHA:20 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hepatitis, Hematuria |
ORPHA:728 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Weight loss |
ORPHA:33276 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Weight loss |
ORPHA:3226 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
OMIM:613327 |
Juvenile Polyposis Of Infancy |
|
Patent ductus arteriosus, Hypoalbuminemia, Cachexia |
ORPHA:79076 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Decreased lymphocyte proliferation in response to anti-CD3, U... |
ORPHA:221139 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Weight loss |
ORPHA:2221 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Increased circulating IgE lev... |
ORPHA:330015 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... |
ORPHA:370348 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2070 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Increased circulating IgE level, Increased circulating ... |
OMIM:615816 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hypospadias, Overweight, Jaundice, Obesity, Hematuria, Hyperbilirubinemia, Decreased body weight,... |
OMIM:619475 |
Pneumocystosis |
|
Increased circulating antibody level, Weight loss |
ORPHA:723 |
Melas |
|
Hypoparathyroidism, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurr... |
ORPHA:550 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... |
ORPHA:423 |
Pyomyositis |
|
Renal insufficiency, Testicular teratoma, Weight loss |
ORPHA:764 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Weight loss, Pheochromocytoma,... |
ORPHA:1332 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cryptorchidism, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Unilateral renal agenes... |
OMIM:619503 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Failure to thrive |
ORPHA:95427 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM |
OMIM:243700 |
Monosomy 18Q |
|
Bilateral cryptorchidism, Patent ductus arteriosus, Micropenis, Failure to thrive, Slender build,... |
ORPHA:1600 |
Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Polymyositis |
|
Hepatomegaly, Weight loss, Elevated circulating creatine kinase concentration, Abnormal renal tub... |
ORPHA:732 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Increased circulating IgE level |
OMIM:614328 |
Systemic Sclerosis |
|
Renal insufficiency, Proteinuria, Elevated circulating creatine kinase concentration, Glomerulone... |
ORPHA:90291 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
Schnitzler Syndrome |
|
Increased circulating IgM level |
ORPHA:37748 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Hypospadias, Small for gestational age, Increased VLDL cholesterol concentration, U... |
OMIM:243800 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulat... |
OMIM:300755 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Urinary retention, Slender build |
ORPHA:1328 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level |
OMIM:147060 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Weight loss, Bone marrow hypocell... |
ORPHA:47612 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Nijmegen Breakage Syndrome |
|
Pollakisuria, Cachexia |
ORPHA:647 |
Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight |
ORPHA:244242 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:607155 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... |
ORPHA:289176 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... |
ORPHA:131 |
Aggressive Systemic Mastocytosis |
|
Portal hypertension, Hypersplenism, Hepatosplenomegaly, Weight loss, Increased proportion of CD25... |
ORPHA:98850 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97280 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level |
ORPHA:217390 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Hyp... |
OMIM:612301 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Weight loss |
ORPHA:142 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Decreased circulating total I... |
OMIM:210900 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Elevated circulating alpha-fetopro... |
ORPHA:100085 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Hypercalcemia, Pituitary null cell adenoma, Pituitary corticotropic cel... |
ORPHA:652 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:255125 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis |
OMIM:300519 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Failure to thrive in infancy, Partial IgA deficiency, Lack of T cell function, Hepatosplenomegaly... |
ORPHA:35078 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Failure to thrive, Elevated circulating alpha-fetoprotein concen... |
OMIM:208900 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Obesity, Weight loss |
ORPHA:251071 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Abnormal circulating creatin... |
ORPHA:440437 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... |
OMIM:616878 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Portal hypertension, Cryptorchidism, Patent ductus arteriosus, Exocrine pancrea... |
OMIM:620005 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Lassa Fever |
|
Increased circulating IgM level, Jaundice, Oliguria |
ORPHA:99824 |
Mogs-Cdg |
|
Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot... |
ORPHA:79330 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Small for gestational age, Glomerulonephritis, Elevated circulating ... |
ORPHA:1304 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Bloom Syndrome |
|
Recurrent urinary tract infections, Small for gestational age, Decreased circulating antibody lev... |
ORPHA:125 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hepatomegaly, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Netherton Syndrome |
|
Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level |
OMIM:256500 |
Familial Mediterranean Fever |
|
Proteinuria, Orchitis, Splenomegaly, Peritonitis, Nephrocalcinosis, Nephrotic syndrome, Nephropat... |
ORPHA:342 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:324964 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Splenomegaly, Increased circulating IgE level, Failure to th... |
OMIM:602450 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Recurrent urinary tract infections, Liver abscess, Cholangitis, Decreased circul... |
ORPHA:183675 |
Vitamin D-Dependent Rickets, Type 2A |
|
Failure to thrive, Secondary hyperparathyroidism, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Decreased circul... |
ORPHA:90363 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Stevens-Johnson Syndrome |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Pancreatitis |
ORPHA:36426 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Charge Syndrome |
|
Hypoparathyroidism, Renal agenesis, Decreased response to growth hormone stimulation test, Crypto... |
OMIM:214800 |
Tularemia |
|
Increased circulating antibody level |
ORPHA:3392 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatosplenomegaly, Weight loss, N... |
ORPHA:1333 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Hepatitis, Weight loss,... |
OMIM:615846 |
Adult Idiopathic Neutropenia |
|
Increased circulating IgM level |
ORPHA:2688 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Increased circulating IgE level, Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Chronic Graft Versus Host Disease |
|
Hematuria, Urinary bladder inflammation, Weight loss, Phimosis |
ORPHA:99921 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Pancreatitis |
ORPHA:537 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Cryptorchidism, Abn... |
ORPHA:2162 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... |
OMIM:122470 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... |
ORPHA:95455 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating antibody level, Failure t... |
OMIM:617591 |
Agel Amyloidosis |
|
Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:33577 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss |
ORPHA:747 |
Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Retroperitoneal fibrosis, Weight loss, Hydronephrosis |
ORPHA:35687 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level |
ORPHA:48104 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Cholelit... |
ORPHA:2072 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Weight loss |
ORPHA:86884 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hydronephrosis, Hypocalcemia |
OMIM:620330 |
Gm1 Gangliosidosis |
|
Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Weight loss, Failure to thrive |
ORPHA:354 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Selective Igm Deficiency |
|
Recurrent urinary tract infections, Paraproteinemia, Decreased circulating total IgM, Decreased s... |
ORPHA:331235 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Splenomegaly, Enlarged lacrimal glands, Hypercalc... |
OMIM:181000 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Small for gestational age, Cryptorchidism, Spleno... |
OMIM:133540 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
Poems Syndrome |
|
Increased circulating antibody level, Increased circulating prolactin concentration, Weight loss |
ORPHA:2905 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Portal hypertension, Enlarged lacrimal glands, ... |
ORPHA:797 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Hypoalbuminemia, Weight loss |
ORPHA:67 |
Okur-Chung Neurodevelopmental Syndrome |
|
Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level, Decreased ci... |
OMIM:617062 |
Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Lon... |
ORPHA:744 |
Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Abnormality of ... |
ORPHA:2750 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Small for gestational age, Thyroid hyperplasia, Weight loss |
ORPHA:424 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Testicular adrenal rest tumor, Elevat... |
ORPHA:90794 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... |
ORPHA:904 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:144 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Elevated circulating C-reactive protein concentration, Splenomeg... |
OMIM:619381 |
Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder, Weight loss |
ORPHA:411602 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Increased cir... |
ORPHA:562639 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Dubowitz Syndrome |
|
Hypospadias, Cryptorchidism, Hypocholesterolemia, Decreased circulating IgG level, Decreased circ... |
OMIM:223370 |
Aspergillosis |
|
Increased circulating IgE level, Abnormality of the kidney, Hepatitis |
ORPHA:1163 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Testicular neoplasm, Ovarian cy... |
ORPHA:249 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Hepat... |
OMIM:311200 |
Zika Virus Disease |
|
Increased circulating IgM level |
ORPHA:448237 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyroidism, Decreased testicular size,... |
ORPHA:93325 |
Williams-Beuren Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Failure to thrive in infancy, Hypercalce... |
OMIM:194050 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomeru... |
OMIM:619127 |
Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Micropenis, Failure... |
OMIM:216400 |
Malignant Atrophic Papulosis |
|
Peritonitis, Abnormality of the lower urinary tract, Weight loss |
ORPHA:679 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Cachexia, Splenomegaly, Hypoalbu... |
ORPHA:75565 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Urinary incontinence |
ORPHA:83600 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss |
ORPHA:729 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Weight loss |
ORPHA:100080 |
Scleromyxedema |
|
Paraproteinemia, Elevated circulating creatine kinase concentration, Abnormality of the kidney |
ORPHA:167635 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Elevated circulating growth hormone concentration, Weight loss |
ORPHA:97287 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis, Obesity |
OMIM:619269 |
Juvenile Dermatomyositis |
|
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... |
ORPHA:93672 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Increased circulating IgE level, Horseshoe kidney, Decreased circulating antibody l... |
ORPHA:508533 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Extrahepatic cholestasis, Weight loss |
ORPHA:100078 |
Aymé-Gripp Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Proteinuria, Breast hypoplasia |
ORPHA:1272 |
Familial Gestational Hyperthyroidism |
|
Goiter, Thyroid hyperplasia, Weight loss |
ORPHA:99819 |
Igg4-Related Pachymeningitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Compleme... |
ORPHA:449427 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Chronic active hepatitis, Glomerulonephritis, Abnormality of the kidney, Bil... |
ORPHA:289390 |
Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu... |
ORPHA:84 |
Kawasaki Disease |
|
Proteinuria, Jaundice, Hepatitis, Sterile pyuria, Cholecystitis |
ORPHA:2331 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Weight loss |
ORPHA:100082 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Weight loss |
ORPHA:79430 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Abnormal mast cell morphology, Weight loss |
ORPHA:98849 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... |
OMIM:618213 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Increased circulating antibody level, Hepatitis |
ORPHA:319218 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mildly elevated creatine kinase, Weight loss |
OMIM:607459 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Orchitis, Splenomegaly, Weight loss, Pancreatitis |
ORPHA:117 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchiti... |
ORPHA:99826 |
Coccidioidomycosis |
|
Renal insufficiency, Abnormality of the kidney, Abnormality of the spleen, Peritonitis, Abnormali... |
ORPHA:228123 |
Immunodeficiency 31C |
|
Splenomegaly, Hepatomegaly, Decreased lymphocyte proliferation in response to anti-CD3, Weight loss |
OMIM:614162 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:649 |
Familial Thrombocytosis |
|
Splenomegaly, Weight loss |
ORPHA:71493 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:301074 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Cryptorchidism, Jaundice, Moderate albuminuria, Obesity |
OMIM:614231 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the kidney, Increased circulating IgG4 level, Elevated circulating C-reactive prot... |
ORPHA:449563 |
Japanese Encephalitis |
|
Hyponatremia, Increased circulating IgM level, Increased circulating antibody level |
ORPHA:79139 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level |
ORPHA:2314 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin... |
ORPHA:91347 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... |
ORPHA:821 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Weight loss |
ORPHA:100075 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Weight loss |
ORPHA:309031 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Proteinuria |
OMIM:616682 |
Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Weight loss |
OMIM:164310 |
Rat-Bite Fever |
|
Pancreatitis, Parotitis, Weight loss |
ORPHA:31205 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Weight loss |
ORPHA:29207 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Mucolipidosis Type Ii |
|
Splenomegaly, Hepatosplenomegaly, Weight loss |
ORPHA:576 |
Tick-Borne Encephalitis |
|
Abnormality of serum cytokine level, Increased circulating IgG level, Increased circulating IgM l... |
ORPHA:297 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblasto... |
ORPHA:99889 |
Pmm2-Cdg |
|
Proteinuria, Elevated circulating growth hormone concentration, Reduced thyroxin-binding globulin... |
ORPHA:79318 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Weight loss |
ORPHA:85408 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Weight loss, E... |
ORPHA:50918 |
Viss Syndrome |
|
Patent ductus arteriosus, Increased circulating IgE level, Increased circulating IgG level, Failu... |
OMIM:619472 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Jaundice, Hepatosplenomega... |
ORPHA:3385 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Leptospirosis |
|
Hepatomegaly, Cellular urinary casts, Jaundice, Hepatitis, Hyperproteinemia, Acute kidney injury |
ORPHA:509 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Nocardiosis |
|
Peritonitis, Liver abscess, Weight loss |
ORPHA:31204 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Choreoacanthocytosis |
|
Splenomegaly, Hepatomegaly, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:2388 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |