Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
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Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Medullary cystic kidney disease 2 |
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Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Hereditary Renal Hypouricemia |
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Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... |
OMIM:145001 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
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 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia |
OMIM:614859 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... |
ORPHA:98813 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re... |
OMIM:615559 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts |
ORPHA:3033 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... |
OMIM:608836 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Femoral-Facial Syndrome |
|
Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:1988 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Drug-Induced Lupus Erythematosus |
|
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:26791 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia |
OMIM:608776 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ... |
ORPHA:2237 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Cystinuria |
|
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Aminoaciduria, Polycystic kidney dysplasia |
OMIM:214110 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at... |
OMIM:208540 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Ren... |
OMIM:614866 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Increased circulating thyroglobulin level, Polycystic kidney dysplasia, Renal cyst |
OMIM:610199 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia |
OMIM:606232 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... |
ORPHA:97362 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Polycystic k... |
ORPHA:53035 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Stage 5 ... |
ORPHA:731 |
Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... |
ORPHA:2970 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Increased blood urea nitrogen |
ORPHA:90321 |
Meckel Syndrome 14 |
|
Polycystic kidney dysplasia |
OMIM:619879 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Renal cyst |
OMIM:614862 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormality of the kidney, Polycystic kidney d... |
ORPHA:480520 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst |
OMIM:236500 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia |
OMIM:200980 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:311200 |
Distal Deletion 12Q |
|
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis |
ORPHA:96149 |
Syndromic Diarrhea |
|
Abnormality of iron homeostasis, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:84064 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:616546 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Hypoalbuminemia, Renal cyst |
OMIM:602579 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Elevated amniotic fluid alp... |
OMIM:249000 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirubinemia, Abnormal serum bile ac... |
ORPHA:79303 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia |
OMIM:614922 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:263520 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Renal hypoplasia, Multiple renal cysts, Hypocalcemia, Polycystic kidney dysplasia, V... |
ORPHA:567 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Ogden Syndrome |
|
Global glomerulosclerosis, Hyperbilirubinemia, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:300855 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Abnormal circulating C-peptide concentration,... |
ORPHA:552 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Renal cyst, Hyperbilirubinemia, Polycystic kidney dysplasia, Micropenis |
OMIM:210710 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
Femoral-Facial Syndrome |
|
Micropenis, Abnormal renal collecting system morphology, Renal agenesis, Polycystic kidney dysplasia |
OMIM:134780 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst, Elevated circulating ribitol concentration |
ORPHA:488618 |
Cystic Echinococcosis |
|
Renal cyst, Membranous nephropathy, Ovarian cyst, Hyperbilirubinemia, Hepatic cysts |
ORPHA:400 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney |
OMIM:612284 |
Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia |
ORPHA:110 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia |
OMIM:220500 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... |
ORPHA:261494 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cysts, Chronic kidney... |
OMIM:208500 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia, Hypocholester... |
OMIM:212065 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... |
OMIM:267010 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital meg... |
ORPHA:369837 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... |
OMIM:618733 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis |
OMIM:257300 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst |
ORPHA:1692 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis |
OMIM:618454 |
Roberts-Sc Phocomelia Syndrome |
|
Long penis, Hypospadias, Polycystic kidney dysplasia, Horseshoe kidney |
OMIM:268300 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Renal dysplasia |
ORPHA:99776 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464311 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Renal cyst |
OMIM:617260 |
Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464306 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... |
OMIM:266920 |
Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst |
ORPHA:284 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
D-Bifunctional Protein Deficiency |
|
Increased circulating very long-chain fatty acid concentration, Renal cyst |
OMIM:261515 |
Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... |
OMIM:613254 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Hypomagnesemia, Lacticaciduria, Renal cyst, Hypophosphatemia, H... |
ORPHA:699 |
Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1454 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub... |
ORPHA:534 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3301 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal hypoplasia, Renal cyst |
OMIM:616300 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed... |
ORPHA:2538 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5... |
OMIM:118450 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis |
OMIM:229850 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Hypospadias, Renal cyst |
OMIM:616975 |
Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, ... |
ORPHA:798 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:818 |
Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Cystic renal dysplasia |
OMIM:269860 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Hyperbilirubinemia, Renal cyst |
OMIM:613610 |
Histiocytoid Cardiomyopathy |
|
Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:892 |
Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis |
ORPHA:2750 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Nephrolithiasis, Hype... |
ORPHA:116 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Elevated circulating creatine kinase co... |
OMIM:615287 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... |
ORPHA:904 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1052 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia |
OMIM:300373 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis |
ORPHA:1606 |
Meckel Syndrome |
|
Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
Trisomy 10P |
|
Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
Distal Deletion 15Q |
|
Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias |
ORPHA:1596 |
Robinow Syndrome |
|
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:97360 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:2308 |
Hajdu-Cheney Syndrome |
|
Multiple renal cysts, Hypospadias |
ORPHA:955 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Renal cyst |
ORPHA:495875 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:991 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... |
ORPHA:3310 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... |
ORPHA:857 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
C Syndrome |
|
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:1308 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... |
OMIM:312870 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia |
ORPHA:2052 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... |
OMIM:107480 |
Proteus Syndrome |
|
Enlarged polycystic ovaries, Long penis, Renal cyst |
ORPHA:744 |
Cornelia De Lange Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter... |
ORPHA:199 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Renal dyspl... |
OMIM:308205 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Renal cyst |
OMIM:113620 |
Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Vesicoureteral reflux, ... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Duplication of renal pelvis, Cho... |
ORPHA:261552 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... |
OMIM:164210 |
Pallister-Killian Syndrome |
|
Hypospadias, Renal dysplasia, Renal cyst |
OMIM:601803 |
Pmm2-Cdg |
|
Proteinuria, Reduced thyroxin-binding globulin, Nephrotic syndrome, Multiple renal cysts, Hypoalb... |
ORPHA:79318 |