Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Vomiting, Hypokalemia, Distal renal tubular acidosis, Failure to thrive, Nephrocalcinosis, Hyperc... |
OMIM:602722 |
Liddle Syndrome |
|
Nephropathy, Hypokalemia, Renal insufficiency, Constipation |
ORPHA:526 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Proximal tubulopathy, Vomiting, Abnormal magnesium concentratio... |
OMIM:241150 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... |
OMIM:179800 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Failure to thrive, Hepatomegaly, Chronic diarrhea, Splenomegaly |
OMIM:615285 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Decreased glomerular filtratio... |
OMIM:601198 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, Hypomagnesemia |
OMIM:154020 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Aa Amyloidosis |
|
Vomiting, Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Ne... |
ORPHA:85445 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hypophosphatemia, Hyperphosphaturia, Hypokalemia, Renal tubular dysfun... |
OMIM:134600 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypochloremia, Polyur... |
OMIM:300971 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... |
OMIM:615382 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular reabsorption of b... |
OMIM:604278 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Isothenuria, Distal renal tubular acidosis, Hepatosplenomegaly, Failure to thrive, N... |
OMIM:611590 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Corticosterone Methyloxidase Type I Deficiency |
|
Vomiting, Hyperkalemia, Renal salt wasting, Increased circulating renin level, Failure to thrive,... |
OMIM:203400 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Failure to thrive, Increased u... |
OMIM:613090 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti... |
OMIM:619902 |
Fanconi-Bickel Syndrome |
|
Glycosuria, Hypophosphatemia, Hyperphosphaturia, Hypokalemia, Generalized aminoaciduria, Failure ... |
OMIM:227810 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Vomiting, Diarrhea, Hyperkalemia, Renal salt wasting, Failure to thrive, Hyponatremia |
OMIM:264350 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Failure to thrive, Polyuri... |
OMIM:616963 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Left ventricular hypertroph... |
ORPHA:320 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Weight loss, Stage 5 chronic kidney disease, Renal sodi... |
ORPHA:3337 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... |
ORPHA:411634 |
Apparent Mineralocorticoid Excess |
|
Small for gestational age, Failure to thrive, Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypokalemia, Polycystic kidne... |
OMIM:613095 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
Cystinosis |
|
Aminoaciduria, Vomiting, Hypophosphatemia, Hypokalemia, Failure to thrive, Nephropathy, Proteinur... |
ORPHA:213 |
Bartter Syndrome, Type 1, Antenatal |
|
Diarrhea, Renal salt wasting, Hyperchloriduria, Polyuria, Hypomagnesemia, Hypercalciuria, Hyperpr... |
OMIM:601678 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Bartter Syndrome, Type 3 |
|
Hypokalemia, Renal salt wasting, Increased circulating renin level, Hyperchloriduria, Increased u... |
OMIM:607364 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Vomiting, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal b... |
ORPHA:411629 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia, Renal insufficiency |
OMIM:177200 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor... |
OMIM:602522 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Hyponatremia |
OMIM:610600 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Vomiting, Hypocitraturia, Diarrhea, Hypermagnesiuria, Hyperp... |
ORPHA:18 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
East Syndrome |
|
Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating renin level, Abnorma... |
ORPHA:199343 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Vomiting, Diarrhea, Hypokalemia, Cachexia, Hematochezia, Xerostomia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Bartter Syndrome Type 4 |
|
Impaired renal concentrating ability, Vomiting, Small for gestational age, Acute kidney injury, S... |
ORPHA:89938 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Large for gestational age |
OMIM:618272 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Vomiting, Diarrhea, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia |
OMIM:177735 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Vomiting, Diarrhea, Glycosuria, Hyperphosphaturia, Bicarbonate-wa... |
ORPHA:47159 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochloremia, Secretory diarr... |
OMIM:214700 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia, Polyuria, Hypercalciuria |
OMIM:613677 |
Late-Onset Familial Hypoaldosteronism |
|
Vomiting, Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to thriv... |
ORPHA:556037 |
Colchicine Poisoning |
|
Vomiting, Renal insufficiency, Diarrhea, Hypophosphatemia, Hypokalemia, Abnormal blood ion concen... |
ORPHA:31824 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Small for gestational age, Glycosuria, Hyperkale... |
ORPHA:97362 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Vomiting, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea nitrogen, Hyperca... |
ORPHA:251004 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolit... |
OMIM:617671 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased urinary potassium |
OMIM:611489 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Enlarged kidney, Paralytic ileus, Episodic vomiting, Elevated circulating alp... |
OMIM:276700 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Hyposthenuria, Vomiting, Diarrhea, Small for gestational age, H... |
OMIM:241200 |
Gitelman Syndrome |
|
Vomiting, Hypokalemia, Nocturia, Increased circulating renin level, Failure to thrive, Polyuria, ... |
OMIM:263800 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia, Renal cortical adenoma, Nausea |
ORPHA:231632 |
Early-Onset Familial Hypoaldosteronism |
|
Vomiting, Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Failure to thriv... |
ORPHA:556030 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Vomiting, Cardiomegaly, Decreased plasma free carnitine, Diarrhea, Ren... |
OMIM:608836 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Hyponatremia, Bowe... |
ORPHA:682 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Gastroesophageal reflux, Dysphagia, Calcinosis, Hypokalemia, Renal artery stenosis... |
OMIM:617913 |
Familial Hypoaldosteronism |
|
Diarrhea, Hyperkalemia, Renal salt wasting, Increased circulating renin level, Proximal renal tub... |
ORPHA:427 |
Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Episodic vomiting, Failure to thrive, S... |
OMIM:619377 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Left ventricular hypertrophy, Nausea, Hypercalciuria |
ORPHA:251274 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... |
OMIM:219800 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia, Increased urinary potassium, Nausea |
ORPHA:231580 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Intermittent diarrhea, Enlarged kidney, Decreased glomerular filtration rate, Hype... |
OMIM:232200 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating renin level, Polyuri... |
OMIM:612780 |
Cholera |
|
Vomiting, Abnormality of renal excretion, Diarrhea, Acute kidney injury, Decreased urine output, ... |
ORPHA:173 |
Juvenile Polyposis Syndrome |
|
Diarrhea, Hypokalemia, Failure to thrive, Hematochezia, Hypoalbuminemia |
OMIM:174900 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Hypoadrenocorticism, Familial |
|
Vomiting, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Nausea |
ORPHA:403 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Nausea |
ORPHA:404 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hyperkalemia, Renal salt wasting, Hyponatremia |
OMIM:614736 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia, Increased urinary potassium, Nausea |
ORPHA:231625 |
Mercury Poisoning |
|
Acute kidney injury, Hypokalemia, Nausea, Episodic vomiting |
ORPHA:330021 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Anuria, Vomiting, Diarrhea, Unconjugated hyperbilirubinemia, Hemoglobinuria, Acu... |
ORPHA:90038 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Renal insufficiency, Acute kidney injury, Exercise-induced myoglobinuria, High... |
ORPHA:99845 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Enlarged kidney, Inflammation of the large intestine, Decreased glomerular filtrat... |
OMIM:232220 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Hepatomegaly, Proteinuria,... |
OMIM:617303 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Nephrolithiasis, Nausea |
ORPHA:369929 |
Adrenocortical Carcinoma |
|
Weight loss, Hypokalemia, Abnormality of urine homeostasis, Increased urinary cortisol level, Inc... |
ORPHA:1501 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Left ventricular hypertrophy, Hypokalemia, Nephrolithiasis |
OMIM:615474 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Obesity, Abdominal obesity, Nephrolithiasis |
OMIM:219090 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Vomiting, Weight loss, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to ... |
ORPHA:171876 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Weight loss, Urinary retention, Transient hypophosphatemia, Hyperkalemia, M... |
ORPHA:79102 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis |
OMIM:608022 |
Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Hyperkalemia, Hyperechogenic kidney... |
OMIM:617595 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Enterocolitis, Diarrhea, Stage 5 chronic kidney disease, Enlarged kidney, Ulcerati... |
ORPHA:79259 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Familial Glucocorticoid Deficiency |
|
Vomiting, Diarrhea, Weight loss, Recurrent urinary tract infections, Hyperkalemia, Renal salt was... |
ORPHA:361 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Renal interstitial immunoglobulin deposits, Abnormal ureter morpholo... |
ORPHA:449395 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Diarrhea, Hypokalemia... |
ORPHA:358 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly |
OMIM:615415 |
Pearson Syndrome |
|
Hyperalaninemia, Chronic diarrhea, Small for gestational age, Glycosuria, Hypophosphatemia, Hypok... |
ORPHA:699 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Urethral atresia, Hydronephrosis |
OMIM:314390 |
Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... |
OMIM:194080 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Enlarged kidney, Weight loss, Hepatomegaly |
ORPHA:79128 |
Leprechaunism |
|
Decreased body weight, Enlarged kidney, Hypokalemia, Increased circulating renin level, Long peni... |
ORPHA:508 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Ur... |
OMIM:208540 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, R... |
ORPHA:90795 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Enlarged kidney, Hepatosplenomegaly, Hypoalbuminemia, Proteinuria, Urinary gl... |
ORPHA:505248 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Diarrhea, Weight loss, Hyperkalemia, Renal salt wasting, Increased circulating ren... |
ORPHA:95409 |
Hepatocellular Carcinoma |
|
Diarrhea, Weight loss, Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hepatomegaly, Hyponatremia... |
ORPHA:88673 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypercholesterolemia, Glomerulopathy, Aminoaciduria, Gastroesophageal reflux, Abnormal renal tubu... |
ORPHA:534 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, F... |
ORPHA:90793 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Gastroesophageal reflux, Vomiting, Hypokalemia, Failure to thrive, Hyponatremia |
OMIM:618426 |
Mirage Syndrome |
|
Gastroesophageal reflux, Decreased body weight, Achalasia, Chronic diarrhea, Microphallus, Recurr... |
OMIM:617053 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... |
ORPHA:731 |
Congenital Isolated Acth Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:199296 |
Vipoma |
|
Weight loss, Hypokalemia, Secretory diarrhea, Hypercalcemia, Hepatomegaly, Hematochezia |
ORPHA:97282 |
H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Hypertriglyceridemia, Micropenis |
ORPHA:168569 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Splenomegaly, Congenital megaureter, Enlarged kidney, Larg... |
ORPHA:116 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Dysphagia, Vomiting, Acute kidney injury,... |
ORPHA:94093 |
Alg9-Cdg |
|
Gastroesophageal reflux, Hypoplasia of the bladder, Vomiting, Diarrhea, Enlarged kidney, Ureteral... |
ORPHA:79328 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Hyperphosphatemia, Anuria, Decreased body weight, Diarrhea, Acute t... |
ORPHA:340 |
Hyperparathyroidism, Transient Neonatal |
|
Gastroesophageal reflux, Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia |
OMIM:613091 |
Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Enlarged kidney, Failure to thrive, Mucopolysacchariduria, H... |
OMIM:252500 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Vomiting, Hyperkalemia, Increased circulating renin level, Renal salt wasting, Failure to thrive,... |
ORPHA:90791 |
Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Multiple renal cysts, Splenomegaly, Hepatosplenomegaly |
ORPHA:464329 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Cardiomegaly, Renal cortical cysts, Pancreatic hyperplasia... |
OMIM:130650 |
Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly |
OMIM:200995 |
Rabson-Mendenhall Syndrome |
|
Increased C-peptide level, Hypokalemia, Long penis, Enlarged ovaries, Nephrocalcinosis |
ORPHA:769 |
Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hypospadias, Hyperechogenic kidneys, Microphallus |
OMIM:612651 |
Helsmoortel-Van Der Aa Syndrome |
|
Gastroesophageal reflux, Enuresis nocturna, Chronic diarrhea, Recurrent urinary tract infections,... |
OMIM:615873 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Diarrhea, Weight loss, Hyperkalemia, Failure to thrive, Hypercalcemia, Constipatio... |
ORPHA:199299 |
Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Hypercholesterolemia, Vomiting, Diarrhea, Weight loss, Ca... |
ORPHA:275761 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Small for gestational age, Necrotizing enterocolitis, Hypokalemia, Secretory ... |
OMIM:619573 |
Scorpion Envenomation |
|
Vomiting, Diarrhea, Ketonuria, Acute kidney injury, Glycosuria, Hypokalemia, Increased circulatin... |
ORPHA:466677 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia, Long penis |
OMIM:202010 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Ethylene Glycol Poisoning |
|
Vomiting, Decreased urine output, Renal tubular epithelial necrosis, Hypocalcemia, Hyperkalemia, ... |
ORPHA:31826 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, My... |
ORPHA:423 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Scrotal hypospadias, Microphallus, Hyperkalemia, Hypospadias, Penoscrotal hypospadias, Perineal h... |
OMIM:201810 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Renal malrotation, Enlarged kidney, L... |
ORPHA:500095 |
Addison Disease |
|
Hyperuricemia, Diarrhea, Weight loss, Hyperkalemia, Renal salt wasting, Increased circulating ren... |
ORPHA:85138 |
Marburg Hemorrhagic Fever |
|
Bloody diarrhea, Vomiting, Diarrhea, Hypokalemia, Elevated circulating creatine kinase concentrat... |
ORPHA:99826 |
Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Bloody diarrhea, Anuria, Vomiting, Diarrhea, Acute kidney injury, De... |
ORPHA:544482 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Vomiting, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
Ogden Syndrome |
|
Vomiting, Diarrhea, Enlarged kidney, Polycystic kidney dysplasia, Hyperbilirubinemia, Global glom... |
OMIM:300855 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Increased urinary cortisol level |
ORPHA:786 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Vomiting, Midshaft hypospadias,... |
ORPHA:168558 |
Nelson Syndrome |
|
Hypokalemia, Increased urinary cortisol level |
ORPHA:199244 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Vomiting, Midshaft hypospadias,... |
ORPHA:289548 |
Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Renal agenesis, Failure to thrive, Horseshoe kidney, Hepatomegaly, Cardiomegaly |
OMIM:306955 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Vomiting, Weight loss |
ORPHA:91347 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:608885 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Vomiting, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kin... |
ORPHA:466650 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Vomiting, Weight loss, Hyperkalemia, Renal salt wasting, Long penis, El... |
ORPHA:90794 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Nephroblastoma, Enlarged kidney, Renal cyst, Duplication of renal pelvis, Hypospadias, Hepatomega... |
OMIM:312870 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
ORPHA:293978 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Penoscrotal hypospadias, Patent urachus, Micropenis |
OMIM:618280 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperkalemia, Hyperlipidemia, Hyponatremia, Enuresis, Obesity |
ORPHA:293987 |
Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia, Bladder diverticulum, Hypospadias, Renovascular hypertension, Cystocele |
ORPHA:286 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Vesicovaginal fistula, Small for gestational age, Decreased circulating renin level, Hyperkalemia... |
OMIM:201750 |