Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi... |
OMIM:613090 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Liddle Syndrome 1 |
|
Hypokalemic alkalosis, Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating reni... |
OMIM:177200 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... |
OMIM:604278 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor... |
OMIM:214700 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Increas... |
OMIM:613845 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre... |
OMIM:241150 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc... |
OMIM:602522 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hypokalemia, Hyperaldosteronis... |
OMIM:613677 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin... |
OMIM:264350 |
Hypokalemic Tubulopathy And Deafness |
|
Acidosis, Increased circulating renin level, Hyperaldosteronism, Renal salt wasting |
OMIM:619406 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos... |
OMIM:607364 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Metabolic acidosis, Hypertension, Hyperchloremia, Hyperchloremic metabolic acidosis |
OMIM:614496 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hypertension, Hyperc... |
OMIM:614492 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Increased circulating renin level, Hypotension |
OMIM:620125 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Metabolic acidosis, Nephrocal... |
OMIM:611590 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension |
OMIM:614495 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Liddle Syndrome 2 |
|
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hypokalemic metabolic alkalosis, Hyperparathyroidism, Increased serum prostagla... |
OMIM:601678 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Congestive heart failure... |
ORPHA:31824 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypokalemic metabolic alkalosis, Renal salt wasting, Increased urinary potassium, I... |
ORPHA:89938 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Hypoargininemia, Increa... |
OMIM:615751 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Hyperald... |
ORPHA:199343 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis |
OMIM:602722 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l... |
OMIM:620126 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Hyperkalemia, Increased circulating re... |
OMIM:610600 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... |
OMIM:300539 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi... |
OMIM:601198 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale... |
ORPHA:427 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Type 1 Diabetes Mellitus |
|
Ketoacidosis, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Apparent Mineralocorticoid Excess |
|
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent... |
OMIM:612780 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... |
ORPHA:97362 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul... |
OMIM:137950 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... |
ORPHA:556037 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... |
OMIM:143880 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Apparent Mineralocorticoid Excess |
|
Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro... |
ORPHA:320 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Hyperaldost... |
OMIM:177735 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium |
OMIM:611489 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldosteronism, ... |
ORPHA:251274 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldosteronism, ... |
ORPHA:404 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Metabolic alkalosis, Intracranial hemorrhage, Hypertensio... |
ORPHA:231625 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Hypokalemic metabolic alkalosis, Increased serum prostaglandin E2, Polyuria, Re... |
OMIM:241200 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... |
ORPHA:556030 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ... |
OMIM:145600 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentra... |
ORPHA:173 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Increased urinary potassium, Metabolic alkalosis, Hypertension, Hypokalemia, Palpitati... |
ORPHA:231580 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Metabolic alkalosis, Renal cortical adenoma, Hypertension, Hypokalemia, Decreased circ... |
ORPHA:231632 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia |
OMIM:616949 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... |
OMIM:103900 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Metabolic alkalosis, Abnormal circulating renin, Nephrolithiasis, Hypokalemi... |
ORPHA:369929 |
Hereditary Coproporphyria |
|
Dark urine, Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri... |
ORPHA:79273 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Ventricular tach... |
OMIM:263800 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperchloremic acidosis, Hypertension, Hyperkalemia |
OMIM:145260 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Metabolic alkalosis, Nephrolithiasis, Hypertension, Hypokalemia, Second degree atrioventricular b... |
OMIM:615474 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Hyperchloremic metabolic acidosis, Chronic kidney dise... |
ORPHA:3337 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Central Diabetes Insipidus |
|
Hyponatremia, Nocturia |
ORPHA:178029 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Chronic acidosis, Hypercalciuria, Genera... |
OMIM:227810 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypokalemic metabolic alkalosis, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagl... |
ORPHA:73224 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Renal tubular dysfunction, Amin... |
ORPHA:213 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:199296 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Helix Syndrome |
|
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,... |
OMIM:617671 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Hypokalemia, Nephrolithiasis, Alkalosis |
OMIM:219090 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Mercury Poisoning |
|
Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism... |
OMIM:239200 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Hyperkalemic metabolic acidosis, Premat... |
ORPHA:90794 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:614736 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hypovolemic shock, Increased circulating renin le... |
ORPHA:171876 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Tachycardia, Palpitations |
OMIM:188580 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Megacystis, Polyuria |
OMIM:125800 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Megacystis, Polyuria |
OMIM:304800 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinas... |
ORPHA:94093 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Increased serum lactate, Elevated circulating thyro... |
OMIM:617872 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Increased serum lactate, Metabolic acidosis, Bradycardia, Hypotension, Acidosis |
ORPHA:391673 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... |
ORPHA:403 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Hypo... |
OMIM:237300 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Metabolic acidosis, Hematochezia, Hypoalbuminemia, ... |
OMIM:618183 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Metabolic acidosis, Glycosuria,... |
OMIM:615605 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro... |
ORPHA:79473 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Orthostatic hypotension, Hypercalcemia, Myocardial infarction,... |
ORPHA:95409 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... |
ORPHA:90793 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Metabolic alkalosis, I... |
ORPHA:786 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... |
ORPHA:90038 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia |
ORPHA:35710 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase, Impaired myocardial contractility |
ORPHA:681 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hematuria, Hypotension... |
ORPHA:549 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... |
OMIM:620366 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... |
ORPHA:90795 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Hypovolemia, Enuresis no... |
ORPHA:223 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Increased serum lactate, Thrombocytopeni... |
OMIM:274150 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia |
ORPHA:79246 |
Citrullinemia, Classic |
|
Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated... |
OMIM:215700 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased urinary porphobilinogen, In... |
ORPHA:100924 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Ketoacidosis, Chronic kidney disease, Hyperammonemia, Hypoalbu... |
ORPHA:1667 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... |
ORPHA:358 |
Glucocorticoid Resistance, Generalized |
|
Metabolic alkalosis, Increased circulating ACTH level, Increased circulating cortisol level, Incr... |
OMIM:615962 |
Scorpion Envenomation |
|
Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Promin... |
ORPHA:466677 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Hypoka... |
OMIM:617913 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
Acute Intermittent Porphyria |
|
Dark urine, Hyponatremia, Renal insufficiency, Tachycardia, Dysuria, Urinary incontinence, Porphy... |
ORPHA:79276 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
OMIM:612933 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Congest... |
ORPHA:247353 |
Citrullinemia Type I |
|
Elevated plasma citrulline, Respiratory alkalosis, Hyperammonemia |
ORPHA:247525 |
Infant Botulism |
|
Hyponatremia, Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... |
ORPHA:3467 |
Pearson Syndrome |
|
Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Renal cys... |
ORPHA:699 |
Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia |
OMIM:608688 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Hyperkalemia, Arrhythmia, Elevated creatine kinase after exercise, Acute kidney in... |
ORPHA:57 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul... |
OMIM:616239 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma c... |
OMIM:311250 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... |
OMIM:613496 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Hypernatriuri... |
ORPHA:361 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Abnormality of the kidney |
ORPHA:284227 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Increased serum lactate, Metabolic acidosis, Patent urachus |
OMIM:618252 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal... |
ORPHA:1764 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Elevated circulating e... |
OMIM:263400 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ... |
OMIM:620300 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Renal salt wasting |
OMIM:300200 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Myoglobinuria, Hyperkalemia, Ventricular tachycardia, Prema... |
ORPHA:423 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes... |
OMIM:598500 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Argininosuccinic Aciduria |
|
Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaci... |
OMIM:207900 |
Tiglic Acidemia |
|
Aminoaciduria, Acidosis |
OMIM:275190 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Hyperaldosteronism, Familial, Type Iv |
|
Hyperaldosteronism |
OMIM:617027 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... |
OMIM:202010 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Hypochloremic metabolic alkalosis |
OMIM:179010 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, H... |
ORPHA:90791 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h... |
ORPHA:31826 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration |
OMIM:616069 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal telangiectasia |
OMIM:620157 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
ORPHA:2364 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperpro... |
OMIM:619003 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypovolem... |
ORPHA:168558 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemic alkalosis, Hypertension |
OMIM:202110 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypovolem... |
ORPHA:289548 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration... |
OMIM:610505 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile acid concentration... |
OMIM:619377 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass... |
ORPHA:79102 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Increased serum lactate, Hyperkalemia, Metabolic acidosis, Hypoalb... |
OMIM:618528 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... |
ORPHA:79644 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Nephrocalcinosis, ... |
ORPHA:94086 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Abnormal urine potassium concentration, H... |
ORPHA:275761 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis |
ORPHA:83601 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocarditis, Hyperkalemia, Oliguria, Hypertension, Hypocalcemia, Acute kidn... |
ORPHA:544482 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hyperkalemia, Intracranial hemorrh... |
OMIM:617053 |
Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Decreased urinary potassium, Renal salt was... |
ORPHA:85138 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypo... |
ORPHA:3452 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Metabolic acidosis, Renal tubular aci... |
ORPHA:79155 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... |
OMIM:617595 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Hypotension |
ORPHA:199299 |
Shigellosis |
|
Hyponatremia, Hemolytic-uremic syndrome, Myocarditis, Urethritis, Abnormal blood ion concentratio... |
ORPHA:810 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... |
OMIM:201810 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom... |
ORPHA:97289 |
Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension, Hyposthenuria |
ORPHA:95512 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... |
OMIM:618913 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Fas... |
ORPHA:769 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Galactosemia I |
|
Hemolytic anemia, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Metabo... |
OMIM:230400 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Image Syndrome |
|
Hypogonadism, Hypospadias, Hydronephrosis, Adrenal hypoplasia |
ORPHA:85173 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Hyposthenuria |
ORPHA:95513 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... |
OMIM:616733 |
Vipoma |
|
Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo... |
ORPHA:97282 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis |
OMIM:615926 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Hydronephrosis |
ORPHA:251076 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Marburg Hemorrhagic Fever |
|
Shock, Renal insufficiency, Abnormality of acid-base homeostasis, Tachycardia, Elevated circulati... |
ORPHA:99826 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hyperglutamatemia, I... |
ORPHA:3008 |
Leprechaunism |
|
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... |
ORPHA:508 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
Reticular Dysgenesis |
|
Dehydration |
ORPHA:33355 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Hyperammonemia, Alkalosis, Intracranial hemorrhage, Hypotensi... |
ORPHA:90062 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficienc... |
ORPHA:731 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Hyperaldosteronism, Renal hypoplasia |
ORPHA:37553 |
Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Hypotension |
ORPHA:95613 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Hypokalemia, Syncope, Palpitations, Prom... |
OMIM:170390 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Lactic acidosis, Hydroureter, Hydronephrosis |
OMIM:618240 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... |
ORPHA:49041 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Respiratory alkalosis, Hyperammonemia, Hyperornithinemia, Oroticaciduria, Abnormal circulating ci... |
ORPHA:415 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Hyposthenuria, Palpitations, Bradycardia |
ORPHA:91355 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal telangiectasia |
OMIM:620155 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Ventricular tachycardia,... |
ORPHA:159 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... |
ORPHA:439232 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:615996 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Hemat... |
ORPHA:90060 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventri... |
OMIM:212138 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Hyp... |
ORPHA:466650 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Meg... |
OMIM:222300 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinos... |
OMIM:616026 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:293978 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Iron deficiency anemi... |
OMIM:618885 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Acidosis |
OMIM:204730 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... |
OMIM:171400 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration |
ORPHA:79312 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo... |
OMIM:608836 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration |
OMIM:214150 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Alg12-Cdg |
|
Hyponatremia, Hypospadias, Hypoalbuminemia, Hypocholesterolemia, Micropenis |
ORPHA:79324 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Increased serum lactate, Ketoacidosis, Hyperammonemia, Metabolic acidosis, Hypertensio... |
ORPHA:134 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypo... |
ORPHA:428 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Parathyroi... |
ORPHA:2237 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal... |
ORPHA:188 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... |
ORPHA:29073 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Decreased circulating T4 ... |
OMIM:608104 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Hydronephrosis, In... |
OMIM:154230 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Carnitine Deficiency, Systemic Primary |
|
Dehydration |
OMIM:212140 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Hyperin... |
ORPHA:230 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Hyperphosphaturia, Pancytopenia, Hyperthyroidism, Elevated circula... |
ORPHA:562 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis |
OMIM:615508 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Oliguria, Central hypothyroidism, Lymphocytosis, Hypochro... |
ORPHA:514 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Lactic acidosis, Decreased circulating cortisol level, Elevated circulating creatine kinase conce... |
OMIM:618838 |
Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
Hawkinsinuria |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid... |
OMIM:140350 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Elevated circulating creatinine concentration, Normochromic anemi... |
ORPHA:247691 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Proteinuria, Abnormality of the urinary system, Arrhythmia |
ORPHA:2162 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circulating... |
ORPHA:36234 |
Stevens-Johnson Syndrome |
|
Hypokalemic metabolic alkalosis, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnorm... |
ORPHA:36426 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Hypoproteinemia, Hydronephrosis, Anemia, Exo... |
ORPHA:2315 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Autosomal Agammaglobulinemia |
|
Dehydration |
ORPHA:33110 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... |
OMIM:619991 |
Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Epistaxis, Increased circulating ferritin concentration, Hypo... |
ORPHA:167 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Propionic Acidemia |
|
Dehydration |
OMIM:606054 |
Meningococcal Meningitis |
|
Hypotension, Renal insufficiency, Shock, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc... |
OMIM:617093 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Lamellar Ichthyosis |
|
Dehydration |
ORPHA:313 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Nephrolithias... |
ORPHA:2785 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Diabetes mellitus, Hepatosplenomegaly, Decreased serum zinc, Hydron... |
ORPHA:541423 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Le... |
OMIM:301056 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Prune Belly Syndrome |
|
Xerostomia, Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Sepsis In Premature Infants |
|
Tachycardia, Elevated circulating C-reactive protein concentration, Oliguria, Metabolic acidosis,... |
ORPHA:90051 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
Cystinuria |
|
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Dietary Iron Overload Disease |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:139507 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... |
OMIM:229600 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O... |
ORPHA:319213 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... |
ORPHA:727 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Dehydration, Oligohydramnios |
OMIM:208085 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Episodic hyperhidrosis, Elevated circulating creatinine concentration, Increased blood urea nitro... |
OMIM:223900 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Tetraploidy |
|
Aplasia/Hypoplasia of the thymus, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... |
ORPHA:913 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar... |
ORPHA:220393 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Metabolic acidosis, Diabetic ketoacidosis, Hypotension |
ORPHA:70578 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Enuresis, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
Netherton Syndrome |
|
Dehydration |
ORPHA:634 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin... |
ORPHA:90068 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia |
ORPHA:99828 |
Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
Ritscher-Schinzel Syndrome 1 |
|
Adrenal hypoplasia, Hypospadias, Hydronephrosis, Decreased response to growth hormone stimulation... |
OMIM:220210 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Splenomegaly, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis |
OMIM:235255 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... |
ORPHA:99829 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... |
ORPHA:1834 |
Secondary Short Bowel Syndrome |
|
Dehydration |
ORPHA:95427 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration |
OMIM:616271 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Serotonin Syndrome |
|
Tachycardia, Lactic acidosis, Hypertension, Hypotension, Acute kidney injury |
ORPHA:43116 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hypotension |
ORPHA:369873 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,... |
ORPHA:99147 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Abnormal renal morphology, Hepatosplenomegaly, Hypocalcemia, Micropenis, Hypoprotei... |
ORPHA:1655 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis |
OMIM:608885 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Thrombocytopenia, Giant platelets, H... |
OMIM:611209 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Cardiac arrest, Increased serum lactate, Dilated cardiomyopathy, Hyperammonemia, Metab... |
ORPHA:20 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Hypertension, Pulmonary arterial hyperte... |
OMIM:606721 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypospadias, Hyperkalemia, Horseshoe kidney, Micropenis, Hypertension, Chordee, Ves... |
OMIM:201750 |
Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis |
OMIM:619185 |
Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Aplasia/Hypoplasia of the thymus, Urethral stenosis, Hydrone... |
ORPHA:1727 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Scrub Typhus |
|
Myocarditis, Renal insufficiency, Hypotension |
ORPHA:83317 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Somatostatinoma |
|
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:97283 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur |
ORPHA:1054 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Hydronephrosis |
OMIM:616897 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Zttk Syndrome |
|
Aortic regurgitation, Polyuria, Unilateral renal agenesis, Horseshoe kidney |
OMIM:617140 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Adrenal hypoplasia, Albuminuria, Aminoaciduria, Elevated circulating long chain fatt... |
OMIM:214100 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Renal d... |
ORPHA:96169 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased... |
OMIM:146510 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Hartsfield Syndrome |
|
Micropenis, Hypernatremia, Hypospadias |
OMIM:615465 |
Glucagonoma |
|
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Acanthocytos... |
ORPHA:97280 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Thyroid lymphangiectasia, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflu... |
OMIM:235510 |
Kury-Isidor Syndrome |
|
Hydronephrosis |
OMIM:619762 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... |
ORPHA:289176 |
Zellweger Syndrome |
|
Primary adrenal insufficiency, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
Methylmalonic Aciduria, Cbla Type |
|
Dehydration |
OMIM:251100 |
Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Hydronephrosis, Elevated circulating creatine kinas... |
OMIM:614921 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Intermittent thrombocytopenia, Erythroid hypoplasia, Urachus ... |
OMIM:612541 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis, Anemia |
ORPHA:163979 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis, Adrenal hypoplasia |
ORPHA:7 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis, Thrombocytopenia |
OMIM:610733 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
Erdheim-Chester Disease |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Hyperhidrosis, Xanthelasma, Diabetes... |
ORPHA:35687 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Splenomegaly, Neurogenic bladder, Hydronephrosis, Elevated circulating creatine kinase concentration |
OMIM:608779 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Congenital Enterovirus Infection |
|
Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension |
ORPHA:292 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia |
OMIM:615989 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
Lassa Fever |
|
Shock, Oliguria |
ORPHA:99824 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... |
ORPHA:261494 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis |
OMIM:302960 |
Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Shock, Elevated circulating C-reactive protein concentration |
ORPHA:36238 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, M... |
OMIM:301040 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral reflux, Lymphopen... |
OMIM:618460 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hypogonadism, Hydronephrosis |
OMIM:612513 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney, Delayed puberty |
ORPHA:2510 |
Ppoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan... |
ORPHA:97278 |
Carpenter Syndrome 1 |
|
Precocious puberty, Hydroureter, Hydronephrosis, Polysplenia |
OMIM:201000 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Hydronephrosis, Thrombocy... |
OMIM:616737 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo... |
ORPHA:244242 |
Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema |
OMIM:256500 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
Grfoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma... |
ORPHA:97261 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Abnormal hemo... |
ORPHA:847 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:249 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... |
OMIM:619351 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Cystocele, Renovascular hyper... |
ORPHA:286 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Dehydration |
ORPHA:79282 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Asplenia, Horseshoe kidney, Multiple renal cysts, Hydroneph... |
ORPHA:99776 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Multilobulated spleen, Hypoplastic spleen,... |
OMIM:601186 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Adrenal hypoplasia, Unilateral renal agenesis, Elevated 8-dehydrocholesterol,... |
OMIM:308050 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... |
OMIM:614080 |
Visceral Myopathy 1 |
|
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis |
OMIM:155310 |
Alternating Hemiplegia Of Childhood |
|
Dehydration |
ORPHA:2131 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:568 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis |
OMIM:619179 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hypospadias, Hydronephrosis |
OMIM:300712 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney |
ORPHA:2953 |
Raine Syndrome |
|
Hydroureter, Hydronephrosis, Hypophosphatemia |
OMIM:259775 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Dehydration |
OMIM:557000 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hypogonadism, Hydronephrosis |
ORPHA:261349 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Maternal diabetes, Fetal pyelectasis, Bilateral renal hypopl... |
ORPHA:49 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis |
OMIM:620327 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... |
ORPHA:280633 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Cellular urinary casts, Retinal hemorrhage, Su... |
ORPHA:509 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... |
OMIM:304150 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... |
ORPHA:100080 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Abnormality of thyroid physiology, Renal dysplasia |
OMIM:300968 |
Tarp Syndrome |
|
Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Xer... |
ORPHA:1896 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Dehydration, Oligohydramnios |
ORPHA:96191 |
Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Hypotension |
ORPHA:439822 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Hypospadias, Abnormality of neutrophils, Thrombocytopenia, Acute lymphoblasti... |
ORPHA:235 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Micropenis, Abnormality of the urinary system, Hydronephrosis |
ORPHA:96092 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100082 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to... |
OMIM:604292 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Vasculitis in the skin, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis |
OMIM:610443 |
Digeorge Syndrome |
|
Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Decreased circulating parat... |
OMIM:188400 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... |
ORPHA:97287 |
Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Hypothyroidism, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis |
OMIM:618454 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Moderate albuminuria, Hydronephrosis, Type I diabetes mellitus |
OMIM:619269 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Urinary bladder sphincter dysfunction, Hypertension, Hypotension |
ORPHA:93256 |
Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Hydronephrosis, Hyperhidrosis |
OMIM:115150 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Posterior pituitary hypoplasia, Micropenis, P... |
ORPHA:464311 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... |
OMIM:270400 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99885 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, In... |
OMIM:619534 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytop... |
OMIM:251260 |
Stromme Syndrome |
|
Accessory spleen, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Renal cyst, Micropenis, Pe... |
ORPHA:464306 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Splenomegaly, Re... |
ORPHA:90324 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to growth hormone s... |
OMIM:129900 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis |
OMIM:616580 |
Microsporidiosis |
|
Dehydration |
ORPHA:2552 |
Distal Deletion 12Q |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Ectopic kidney, Pituitary adenoma, Polyc... |
ORPHA:96149 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormality of the endocr... |
ORPHA:487796 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:250989 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension |
ORPHA:98850 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Abnormality of the... |
ORPHA:438213 |
Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Adrenal hypoplasia, Hypoplasia of the thymus, Multiple bladder diverticula, Hyd... |
OMIM:613177 |
White-Kernohan Syndrome |
|
Hydroureter, Hypothyroidism, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... |
ORPHA:363958 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:818 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio... |
ORPHA:100075 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
7Q11.23 Microduplication Syndrome |
|
Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:96121 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ureteral hypoplasia, Hypoplasia of the ovary, Abnormal renal artery mo... |
ORPHA:79328 |
Opitz Gbbb Syndrome |
|
Hypospadias, Abnormality of the urinary system, Vesicoureteral reflux, Thyroglossal cyst, Hydrone... |
ORPHA:2745 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis, Exocrine pancreat... |
ORPHA:2750 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Hydronephrosis |
ORPHA:210122 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Cardiofaciocutaneous Syndrome |
|
Hydronephrosis |
ORPHA:1340 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder, Congenital hypothyroidism |
OMIM:616973 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Elevated circulating creatine kinase co... |
OMIM:615287 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Holoprosencephaly 3 |
|
Central diabetes insipidus, Hydronephrosis |
OMIM:142945 |
Apert Syndrome |
|
Hydronephrosis, Hyperhidrosis |
OMIM:101200 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
Schinzel-Giedion Syndrome |
|
Myeloid leukemia, Hypospadias, Streak ovary, Abnormality of the ureter, Nephrolithiasis, Renal cy... |
ORPHA:798 |
Trisomy 18 |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Hyperhidrosis |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hypothyroidism, Hydronephrosis, Hyperhidrosis |
ORPHA:352665 |
Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
Trisomy 8P |
|
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis |
ORPHA:264450 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Splenopancreatic fusion, Micropenis, Hydronephrosis |
OMIM:269150 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Polysplenia, Hydronephrosis |
OMIM:229850 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Acute lymphoblastic leukemia, Ureteropelvic junction obstruction, H... |
OMIM:280000 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Precocious puberty, Dilatation of the renal pelvis, Stage 5 chronic ... |
ORPHA:2044 |
Hennekam-Beemer Syndrome |
|
Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
Charge Syndrome |
|
Hypoparathyroidism, Renal agenesis, Hypogonadotropic hypogonadism, Decreased response to growth h... |
OMIM:214800 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney, Acute leukemia |
ORPHA:3474 |
Robinow Syndrome |
|
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Webbed penis, Micropeni... |
ORPHA:97360 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Thrombocytopenia |
ORPHA:2308 |
Monosomy 22Q13.3 |
|
Hypohidrosis, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia |
ORPHA:48652 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:99889 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Hypogonadotropic hypogonad... |
ORPHA:3455 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction |
ORPHA:1826 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Charge Syndrome |
|
Hypogonadotropic hypogonadism, Horseshoe kidney, Abnormality of the adrenal glands, Delayed puber... |
ORPHA:138 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Crossed fused renal ectopia, Premature thelarche, Autoimmune thrombocytopenia, ... |
OMIM:147920 |
3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism... |
ORPHA:79500 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormality of the spleen, Renal cys... |
ORPHA:1606 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormal circulat... |
ORPHA:2636 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Asplenia, Dilatation of the renal pelvis, Dilatation of the bladder, Hy... |
OMIM:265380 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Increased VLDL cholesterol concentration,... |
OMIM:243800 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Alexander Disease |
|
Hypotension, Hypertension, Sudden cardiac death |
ORPHA:58 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis |
OMIM:616268 |
Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
Okamoto Syndrome |
|
Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Ureteropelvic junction obstructi... |
ORPHA:2729 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hypothyroidism, Hydronephrosis, Decreased response to growth ... |
ORPHA:506358 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Hypospadias, Premature thelarche, Leukemia, Hydronephrosis |
OMIM:180849 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hypocalcemia, Hydronephrosis |
OMIM:620330 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Abnormality of the urinary syst... |
ORPHA:353281 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Nephrotic syndrome, Hydronephrosis |
OMIM:601776 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... |
ORPHA:3310 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Congen... |
ORPHA:709 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Micropenis, Severe B lymphocytopenia, B lymphocytopenia, Hydronephrosis |
ORPHA:83617 |
Campomelic Dysplasia |
|
Hypospadias, Hydronephrosis |
OMIM:114290 |
Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Xerostomia, Renal hypoplasia, Hydronephrosis |
ORPHA:2363 |
Prolactinoma |
|
Hypotension |
ORPHA:2965 |
Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... |
OMIM:136140 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Hypohidrosis, Hyd... |
ORPHA:2273 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... |
ORPHA:353277 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis |
OMIM:135900 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Pancreatic islet-cell hyperpl... |
OMIM:312870 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Hydronephrosis, Adrenal gland dysgenesis |
OMIM:236680 |
Neuroendocrine Neoplasm Of Appendix |
|
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension |
ORPHA:100079 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney |
OMIM:305600 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:363700 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hydronephrosis, Abnormal circulating thyroid hormone concentration, Renal dysplasia, Delayed puberty |
ORPHA:480880 |
Genitopatellar Syndrome |
|
Hypothyroidism, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Asplenia, Chordee, Vesicouretera... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Asple... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Asplenia, Duplication of renal p... |
ORPHA:261552 |
Peters-Plus Syndrome |
|
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia |
OMIM:261540 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... |
ORPHA:1359 |
Viss Syndrome |
|
Hypothyroidism, Hypereosinophilia, Hydronephrosis |
OMIM:619472 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Hydronephrosis |
OMIM:304120 |
Plague |
|
Hematemesis, Tachycardia, Arrhythmia, Hypotension |
ORPHA:707 |
Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension |
ORPHA:95494 |