Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Hyperchloremic metabolic acidosis, Hyperchloremia, Metabolic acidosis |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hypertension, Hyperchloremic metabolic acidosis, Hyperchloremia, Metabolic acidosis |
OMIM:614496 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hypertension, Hyperchloremia, Hyperchloremic metabolic acidosis |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hypertension, Hyperchloremia, Hyperchloremic metabolic acidosis |
OMIM:614495 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassiu... |
OMIM:607364 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... |
OMIM:613090 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Proximal tubulop... |
OMIM:241150 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia, Hypertension, Hyperchloremic acidosis |
OMIM:145260 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... |
OMIM:300971 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... |
OMIM:602522 |
Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting, Increased circulating renin level, Acidosis, Hyperaldosteronism |
OMIM:619406 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... |
OMIM:601198 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Tachycardia, Mix... |
OMIM:145600 |
East Syndrome |
|
Renal salt wasting, Metabolic alkalosis, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hyper... |
ORPHA:199343 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Increased circulating cortic... |
OMIM:610600 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Metabolic alkalosis, Hyperactive renin-angiotensin system, Hypokalemia, Hypochlorem... |
OMIM:214700 |
Liddle Syndrome 3 |
|
Hypertension, Metabolic alkalosis, Hypokalemia |
OMIM:618126 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyper... |
OMIM:601678 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Acidosis, Microscopic hematuria... |
OMIM:137950 |
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal potassium wasting, Renal magnesium ... |
ORPHA:564178 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hydronephrosis, Hypokalemia, Alkalosis, Central diabetes insipidus, Polyuria |
OMIM:304900 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypokalemic metabolic alkalosis, Hypomagne... |
OMIM:612780 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... |
OMIM:613845 |
Liddle Syndrome 1 |
|
Metabolic alkalosis, Decreased circulating aldosterone level, Decreased circulating renin level, ... |
OMIM:177200 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hyperaldosteronism, Metaboli... |
OMIM:613677 |
Hypertension, Essential |
|
Elevated diastolic blood pressure, Elevated systolic blood pressure, Elevated mean arterial pressure |
OMIM:145500 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Renal salt wasting, Metabolic acidosis, Hypotension |
OMIM:264350 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Increase... |
OMIM:203400 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Hypertension |
ORPHA:757 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... |
ORPHA:556037 |
Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Nephrocalcinosis, Increased urin... |
ORPHA:89938 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... |
OMIM:616963 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Lactic acidosis, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Nephronophthisis 2 |
|
Hyperkalemia, Hypertension, Pulmonary insufficiency, Chronic tubulointerstitial nephritis, Nephro... |
OMIM:602088 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokal... |
OMIM:241200 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... |
ORPHA:556030 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... |
OMIM:177735 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Hypocalcemic seizures, Parathyroid agenesis, Hypomagnesemia, Hypoc... |
ORPHA:2239 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Myocardial infarction |
OMIM:608320 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Lactic acidosis, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Acidosis, A... |
OMIM:134600 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Proximal renal ... |
ORPHA:427 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... |
OMIM:161900 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal urine carbohydrate level, Abnormal circulating ... |
ORPHA:2843 |
Riboflavin Deficiency |
|
Metabolic acidosis, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Increased serum lactate, Stage 5 chronic kidney disease, Hyperalanin... |
OMIM:618250 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Decreased circulating renin level, Hypokalemia, Nephroca... |
ORPHA:320 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Nephrocalcinosis, Metabolic acidosis, Hypercalciuria, Distal renal tubular acidosis |
OMIM:602722 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Cyanosis |
OMIM:240200 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Renal salt wasting |
OMIM:614736 |
Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... |
OMIM:248250 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... |
OMIM:601894 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Ketoacidosis, Respiratory alkalosis, Increased serum lactate, Hyperammonemia, Hyperalaninemia, Me... |
OMIM:615751 |
Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis, Diabetes mellitus |
OMIM:222100 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Metabolic alkalosis, Decreased circulating renin level, Hypokalemia, Increas... |
ORPHA:231580 |
Gitelman Syndrome |
|
Hypokalemia, Hypokalemic alkalosis, Delayed puberty, Hypomagnesemia, Hypocalciuria, Renal potassi... |
OMIM:263800 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Metabolic alkalosis, Neoplasm of the adrenal gland, Decreased circulating renin level, Hypokalemi... |
ORPHA:231625 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency, Hypokalemia |
ORPHA:526 |
Liddle Syndrome 2 |
|
Hypokalemia, Hypertension, Decreased circulating renin level, Metabolic alkalosis |
OMIM:618114 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Metabolic alkalosis, Hypokalemia, Abnormal circulating renin, Glucocortocoid... |
ORPHA:251274 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... |
OMIM:616818 |
Nail-Patella-Like Renal Disease |
|
Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Premature ventricular contraction, Myoglobinuria, Ventricular tachycardia, Hypercap... |
ORPHA:423 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Myocardial... |
ORPHA:54370 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:613944 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... |
OMIM:227810 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... |
OMIM:603965 |
Apparent Mineralocorticoid Excess |
|
Metabolic alkalosis, Decreased circulating renin level, Hypokalemia, Decreased circulating aldost... |
OMIM:218030 |
Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Abnormality of acid-base homeostasis, Hypomagnesemia... |
ORPHA:31824 |
Hsd10 Disease, Neonatal Type |
|
Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy, Abnormal concentration of acylc... |
ORPHA:391457 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Abnormal circulating aldosterone, Glucocortocoid-insensitive primary ... |
ORPHA:171876 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Hyp... |
OMIM:248190 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lacticaciduria, Increased serum lactate, Hyperalaninemia, Hyperprolinemia, Lactic acidosis |
ORPHA:79246 |
Ectopic Aldosterone-Producing Tumor |
|
Metabolic alkalosis, Decreased circulating renin level, Hypokalemia, Renal cortical adenoma, Gluc... |
ORPHA:231632 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia |
OMIM:616949 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Metabolic alkalosis, Hypokalemia, Abnormal circulating renin, Glucocortocoid... |
ORPHA:404 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hyperchloremic metabolic acidosis, Hypokalemia, Nephrocalcinosis, Isothenuria, Metabolic acidosis... |
OMIM:611590 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... |
OMIM:613237 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Arrhyt... |
ORPHA:57 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hypokalemic metabolic alkalosis... |
ORPHA:73224 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Increased serum lactate |
OMIM:616209 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyuria, Periglom... |
OMIM:619468 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Tiglic Acidemia |
|
Aminoaciduria, Acidosis |
OMIM:275190 |
Hypomagnesemia, Seizures, And Mental Retardation 1 |
|
Hypomagnesemia |
OMIM:616418 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Hypertension |
ORPHA:90044 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroidism... |
OMIM:618183 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... |
ORPHA:99845 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypertension, Shock, Renal tubular dysfunction, Decreased urine output, Prolonged Q... |
ORPHA:31826 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Elevated lactate:pyruvate ratio, Pulmonar... |
OMIM:619003 |
Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... |
ORPHA:84090 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Proteinuria, Nephropathy |
ORPHA:2820 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Hypomagnesemia, Hypermagnesiuria |
ORPHA:34527 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Hydroxykynureninuria |
|
Renal tubular dysfunction, Tachycardia, Metabolic acidosis, Aminoaciduria, Hypotension |
OMIM:236800 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Nephrocalcinosis |
OMIM:267200 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Hyponatremia, Hyperkalemia, Increased serum testosterone level, Decreased circulatin... |
ORPHA:90791 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... |
OMIM:603278 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal insufficiency |
OMIM:617595 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria |
OMIM:143880 |
Gracile Syndrome |
|
Increased serum iron, Chronic lactic acidosis, Increased circulating ferritin concentration, Incr... |
OMIM:603358 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Microscopic hematuria, Metabolic acidosis, Chronic kidney disease, Hyponatremia... |
ORPHA:411634 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Androgen insufficiency, Decreased circulating aldoster... |
ORPHA:95409 |
Mitochondrial Complex I Deficiency, Nuclear Type 24 |
|
Increased serum lactate |
OMIM:618245 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Metabolic alkalosis, Decreased circulating renin level, Nephrolithiasis, Hypokalemia |
OMIM:615474 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Hypermagnesemia, Hypercalciur... |
OMIM:145980 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot... |
ORPHA:3337 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Metabolic acidosis, Hyperalaninemia |
ORPHA:2597 |
Cystinosis |
|
Renal tubular dysfunction, Hypokalemia, Hypophosphatemia, Nephrogenic diabetes insipidus, Type I ... |
ORPHA:213 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Increased serum lactate, Increased urine alpha-ketoglutarate concentration |
OMIM:619224 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Cong... |
ORPHA:682 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... |
OMIM:145981 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Hyperchloremic metabolic acidosis, Tubulointerstitial fibrosis, Hypophosphatemia, S... |
OMIM:618913 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Abnormality of the urinary system, Adreno... |
OMIM:103900 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Lactic acidosis |
OMIM:614053 |
Helix Syndrome |
|
Hypokalemia, Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Hypermagnesemia, Polyuria, Rena... |
OMIM:617671 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Lactic acidosis, Organic aciduria |
OMIM:617184 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:161950 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertension, Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Hypertriglyceridemia, ... |
OMIM:610947 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... |
ORPHA:90794 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypertension, Myoglobinuria, Hypernatremia, Elevated circulating crea... |
ORPHA:94093 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Metabolic alkalosis, Hypokalemia, Abnormal circulating renin, Nephrolithiasi... |
ORPHA:369929 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis |
OMIM:600467 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension |
ORPHA:3188 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Infantile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Hyperchloremic metabolic ac... |
ORPHA:411629 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a... |
ORPHA:289548 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a... |
ORPHA:168558 |
Hawkinsinuria |
|
Abnormal circulating tyrosine concentration, Metabolic acidosis, 4-Hydroxyphenylpyruvic aciduria,... |
ORPHA:2118 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Urinary incontinence, Urinary urgency, Hypotension |
OMIM:156310 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Increased serum lactate, Nephrotic syndrome |
OMIM:614652 |
3-Hydroxyisobutyric Aciduria |
|
Episodic ketoacidosis, Aminoaciduria, Lactic acidosis, Ketoacidosis |
OMIM:236795 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Increased circulating androstenedione concentration, Hypokale... |
ORPHA:90795 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypertension, Nephrocalcinosis, Myocardial infarction, Congestive heart failure, Hypophosphatemic... |
OMIM:614473 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating ... |
ORPHA:567544 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:619062 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Increased serum lactate, Hyperalaninemia, Metabolic acidosis, Lactic... |
OMIM:614702 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... |
OMIM:600740 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, D... |
ORPHA:403 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinas... |
OMIM:619386 |
Sulfide:Quinone Oxidoreductase Deficiency |
|
Elevated circulating creatine kinase concentration, Lactic acidosis |
OMIM:619221 |
Addison Disease |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Androgen insufficiency, Decreased circulating aldoster... |
ORPHA:85138 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease |
OMIM:266900 |
Oxoglutarate Dehydrogenase Deficiency |
|
Metabolic acidosis, Congenital lactic acidosis, Increased serum lactate |
OMIM:203740 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia |
OMIM:608885 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Hyperchloremic metabolic acidosi... |
ORPHA:18 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Increased serum lactate |
OMIM:615395 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy, Increased serum lactate |
OMIM:618855 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine, Increased le... |
OMIM:215600 |
Cholera |
|
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acute kidney i... |
ORPHA:173 |
Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphaturia, Calcinosis, Ami... |
OMIM:239200 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:614055 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Cardiomyopathy, Elevated circulating acylcarnitine concentration, Increase... |
ORPHA:26792 |
Trimethylaminuria |
|
Trimethylaminuria, Hypertension, Tachycardia |
OMIM:602079 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Decreased plasma free carnitine, Increased serum lactate, Bradycardia, Hyperalaninemia, Congestiv... |
OMIM:619048 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria |
OMIM:233100 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal circulating lipid concentration, Congestive h... |
ORPHA:225 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Nephrolithiasis, Pituitary adenoma, Alkalosis, Increased circulating ACTH level |
OMIM:219090 |
Galactosemia I |
|
Hypergalactosemia, Aminoaciduria, Hyperchloremic metabolic acidosis, Increased level of galactito... |
OMIM:230400 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Renal potassium wasting, Type I diabetes mellitus, Enuresis, Parath... |
ORPHA:358 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Elevated circulating follicle stimulating hormon... |
ORPHA:90793 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketoacidosis, Episodic ketoacidosis, Increased serum lactate, Hyperammonemia, Lactic acidosis |
OMIM:615453 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hypotension |
ORPHA:199296 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... |
ORPHA:567548 |
Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease |
OMIM:606996 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... |
OMIM:611555 |
Preeclampsia |
|
Hypertension, Elevated diastolic blood pressure, Elevated circulating creatinine concentration, E... |
ORPHA:275555 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Increased serum lactate, Cyanos... |
ORPHA:91130 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Lactic acidosis, Increased serum lactate, Hyperalaninemia |
OMIM:617228 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Polyuria, Nephrogenic diabetes insipidus, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Megacystis, Polyuria, Diabetes insipidus, Hypernatremia |
OMIM:304800 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Urinary rete... |
ORPHA:79102 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Metabolic acidosis, Methylmalonic acidemia, Methylmalonic aciduria, Ketonuria |
OMIM:251120 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertension, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... |
OMIM:615703 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Increased serum lactate, Bradycardia, Metabolic acidosis, Acidosis, Hypotension |
ORPHA:391673 |
Isolated Glycerol Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Metabolic acidosis |
ORPHA:408 |
Snakebite Envenomation |
|
Hyponatremia, Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic sho... |
ORPHA:449285 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Metabolic acidosis, Increased serum lactate |
OMIM:615158 |
Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypertrophic cardiomyopathy, Recurrent urinary tract infections, Rena... |
ORPHA:361 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Parathormone-independent increased renal t... |
ORPHA:405 |
Blue Diaper Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Metabolic acidosis, Hyperphosphatemia, Blue urine |
ORPHA:94086 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Ketoacidosis, Elevated circulating creatine kinase concentration, Hyperam... |
OMIM:618120 |
Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Mildly elevated creatine kinase, Episodic hypokalemia |
ORPHA:681 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Abnormal T-wave, Prolonged QT interval, Elevated circulating creatine kinase concen... |
ORPHA:466650 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin... |
ORPHA:101016 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Elevated circulating creatine kinase concentration, Metabolic alkalosis, Focal segmental glomerul... |
OMIM:616239 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Organic aciduria |
OMIM:614741 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum lactate, Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid conce... |
OMIM:615160 |
Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, Hypercalciuria, Hyperphosphatemia |
ORPHA:428 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
Uremic Pruritus |
|
Hypercalcemia, Stage 5 chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphate... |
ORPHA:94059 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Incre... |
OMIM:612933 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter, Hypokalemia |
OMIM:188580 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Goiter, Hypokalemia |
OMIM:613239 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Tubulointerstitial nephritis, Ketoacidosis, Elevated lactate:pyruvat... |
OMIM:614582 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubula... |
ORPHA:47159 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Metabolic alkalosis, Increased urinary cortisol level, Decreased circulating... |
ORPHA:786 |
Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... |
ORPHA:340 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
Pearson Syndrome |
|
Adrenal insufficiency, Hypoparathyroidism, Hypokalemia, Lacticaciduria, Decreased response to gro... |
ORPHA:699 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Congenital hypoparathyroidism, Hypocalcemia |
OMIM:244460 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Increased serum pyruvate, Increased serum lactate, Severe lactic acidosis |
OMIM:616794 |
C3 Glomerulopathy |
|
Hypertension, Nephrotic syndrome, Elevated circulating creatinine concentration, Hematuria, Stage... |
ORPHA:329918 |
Acute Peripheral Arterial Occlusion |
|
Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Hypoargininemia, Low plasma citrulline, Hyperammonemia, Episodic ammonia i... |
OMIM:237300 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Denys-Drash Syndrome |
|
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Amyloidosis, Familial Visceral |
|
Hypertension, Nephrotic syndrome, Hematuria, Nephropathy, Proteinuria |
OMIM:105200 |
Cardiogenic Shock |
|
Right ventricular failure, Hypoxemia, Mitral regurgitation, Low pulse pressure, Elevated circulat... |
ORPHA:97292 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:256100 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Metabolic acidosis, Increased serum lactate |
OMIM:618252 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypospadias, Hypertrophic cardiomyopathy, Increased serum lactate, Hyperammonemia, 3-Methylglutac... |
OMIM:604273 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Acidosis |
OMIM:204730 |
Apnea, Central Sleep |
|
Cyanosis, Urinary incontinence, Lactic acidosis |
OMIM:207720 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Hyperglutaminemia, Episodic ammonia intoxication, Hyperammonemia, Low plas... |
OMIM:311250 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration... |
OMIM:123550 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Hypertension, Lactic acidosis, Pulmonary arterial hypertension |
OMIM:605711 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Lactic acidosis |
ORPHA:330054 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
OMIM:202010 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Lactic acidosis, Increased serum lactate, Hyperalaninemia |
OMIM:616974 |
Developmental And Epileptic Encephalopathy 53 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate |
OMIM:617389 |
Citrullinemia Type I |
|
Elevated plasma citrulline, Respiratory alkalosis, Hyperammonemia |
ORPHA:247525 |
Pyruvate Carboxylase Deficiency |
|
Increased serum lactate, Proximal renal tubular acidosis, Hyperalaninemia, Increased serum pyruva... |
OMIM:266150 |
2P21 Microdeletion Syndrome |
|
Lactic acidosis, Nephrolithiasis, Cystinuria, Hypocalcemia |
ORPHA:163693 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis, Hyperammonemia |
OMIM:614111 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine... |
OMIM:171420 |
Citrullinemia, Classic |
|
Oroticaciduria, Respiratory alkalosis, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Episod... |
OMIM:215700 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Elevated circulating creatine kinase concentration, Lactic acidosis, Increased serum lactate, Hyp... |
OMIM:618416 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hypertriglyceridemia |
OMIM:613877 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Increased serum lactate, Cardiomyopathy, Congestive heart failure, Lactic acidosis, Arrhythmia |
OMIM:616198 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Elevated circulating creatine kinase concentration, Cardiomyopathy, Increased... |
OMIM:617713 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Increased serum lactate, Increased total bilirubin, Bradycardia,... |
OMIM:616299 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia |
OMIM:618426 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Hypertension, Urinary hesitancy, Urinary retention, Atrial fibrillation, D... |
ORPHA:976 |
Coproporphyria, Hereditary |
|
Increased urinary porphobilinogen, Hypertension, Tachycardia, Elevated urinary delta-aminolevulin... |
OMIM:121300 |
Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... |
OMIM:300555 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Metabolic acidosis, Increased serum lactate, Increased total bilirubin |
OMIM:618528 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Cardiomyopathy, Hyperuricemia, Renal insufficiency, Arrhythmia |
ORPHA:3222 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating neopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal... |
ORPHA:1578 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephropa... |
ORPHA:37042 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Incre... |
ORPHA:2364 |
Renal Tubular Acidosis, Proximal |
|
Renal tubular acidosis, Proximal renal tubular acidosis, Hyperchloremic acidosis |
OMIM:179830 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Abnormal cardiac ventricular function, Hyperisoleucinemia, Increased serum lactate, Increased uri... |
ORPHA:2394 |
Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Hypospadias, Intracranial hemorrhage, Recurrent urinary tract infecti... |
OMIM:617053 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic ... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic ... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic ... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic ... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic ... |
OMIM:612926 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Metabolic acidosis, Chronic kidney disease, Hypermagnesemia, Ren... |
ORPHA:469 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Pulmonary arterial hypertension, Acidosis, Hypercholesterolemia, Hypo... |
ORPHA:275761 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Metabolic acidosis, Congestive heart failure, Increased serum lactate, Hypertrophic cardiomyopathy |
OMIM:618234 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Metabolic acidosis, Hypertrophic cardiomyopathy |
OMIM:618235 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum lactate, Cardiomyopathy, Hyperalaninemia, Hyperprolinemia, Metabolic acidosis, In... |
OMIM:619046 |
Paragangliomas 6 |
|
Hypertension |
OMIM:618464 |
Infant Botulism |
|
Hyponatremia, Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Lactic acidosis, Alaninuria |
OMIM:202900 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ethylmalonic aciduria, Episodic metabolic acidosis, Cardiomyopathy |
OMIM:201470 |
Gaisböck Syndrome |
|
Hyperproteinemia, Nephrocalcinosis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Di... |
ORPHA:90041 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Glycosuria, Metabolic acidosis, Aminoaciduria, Proteinuria |
OMIM:615605 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Lactic acidosis, Increased serum lactate |
OMIM:614096 |
Mitochondrial Myopathy, Infantile, Transient |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Increased serum pyru... |
OMIM:500009 |
Hawkinsinuria |
|
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, Metabolic acidosis, 4-hydroxyphenylacetic acid... |
OMIM:140350 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Metabolic acidosis, Increased serum pyruvate, Lactic acidosis, Hyperalaninemia |
OMIM:245349 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Hypertension, Congestive heart failure, Hypophosphatemic rickets |
OMIM:208000 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Hypertension, Renal insufficiency |
OMIM:618681 |
Rhabdoid Tumor |
|
Hypercalcemia, Hypertension, Hematuria, Renal neoplasm, Internal hemorrhage |
ORPHA:69077 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Lactic acidosis, Bradycardia, Increased serum lactate, Hyperalaninemia |
OMIM:614654 |
Mercury Poisoning |
|
Acute kidney injury, Hypokalemia |
ORPHA:330021 |
Glycerol Kinase Deficiency |
|
Metabolic acidosis, Increased urinary glycerol, Hypertriglyceridemia, Ketoacidosis |
OMIM:307030 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Ketoacidosis, Methylmalonic aciduria, Dicarboxylic... |
ORPHA:289504 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
Argininosuccinic Aciduria |
|
Oroticaciduria, Respiratory alkalosis, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Aminoa... |
OMIM:207900 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Glo... |
OMIM:104200 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Aminoaciduria, Lactic acidosis |
OMIM:609560 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Decreased glomerular filtration rate, Dys... |
ORPHA:93598 |
Rowley-Rosenberg Syndrome |
|
Hypertension, Aminoaciduria, Pulmonary arterial hypertension |
OMIM:268500 |
Nelson Syndrome |
|
Increased urinary cortisol level, Type II diabetes mellitus, Diabetes insipidus, Hypokalemia, Inc... |
ORPHA:199244 |
Hereditary Coproporphyria |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
Gracile Syndrome |
|
Renal Fanconi syndrome, Decreased transferrin saturation, Elevated hepatic iron concentration, In... |
ORPHA:53693 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circulating histidine con... |
ORPHA:79096 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Increased serum lactate, Tricuspid ... |
OMIM:619051 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Proteinuria, Renal insufficiency, Nephropathy |
OMIM:166300 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration, Metabolic aci... |
ORPHA:79155 |
Leprechaunism |
|
Central hypothyroidism, Hypokalemia, Long penis, Nephrocalcinosis, Hyperaldosteronism, Increased ... |
ORPHA:508 |
Methanol Poisoning |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Hyperlipidemia, Permanent atrial fibr... |
ORPHA:31825 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Glutaric aciduria, Hyperuricemia, Hyperammonemia, Increased level of hippuric acid in urine, 3-Me... |
OMIM:246450 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:604387 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Exercise-induced lactic acidemia, Incre... |
OMIM:212350 |
Familial Isolated Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosi... |
ORPHA:99879 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Myocarditis, Decreased urine output, Hypertension, Anuria, Hypertensi... |
ORPHA:544482 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis |
ORPHA:83601 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Hypercalcemia, Elevated urinary epinephrine, Palpitations, Hematuria, Elevat... |
ORPHA:94080 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria, Diabetes mellitus, Type I diabetes mellitus |
OMIM:560000 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia, Hypertension |
ORPHA:2111 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Proximal tubulopathy, Aminoaciduria, Lactic acidosis |
OMIM:612075 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:606966 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hypertriglyceridemia |
ORPHA:71529 |
3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Lactic acidosis, Cardiomyopathy |
ORPHA:67048 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate |
OMIM:617613 |
Malonyl-Coa Decarboxylase Deficiency |
|
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Methylmalonic aciduria, Me... |
OMIM:248360 |
Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... |
ORPHA:439232 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Increased serum bile acid concentration, Proteinuria, Hypokalemia |
OMIM:619377 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Nephrocalcinosis, Renal tubular acidosis, Hyperparathyroidism, Hypercalciuria |
OMIM:239199 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia |
ORPHA:90790 |
Glucocorticoid Resistance, Generalized |
|
Hypertension, Metabolic alkalosis |
OMIM:615962 |
Cystinosis, Nephropathic |
|
Hyponatremia, Renal Fanconi syndrome, Generalized aminoaciduria, Nephrolithiasis, Glycosuria, Sta... |
OMIM:219800 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased serum lactate, Mildly elevated creatine kinase |
ORPHA:457050 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting, Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:545000 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Lactic acidosis, Arrhythmia |
OMIM:617021 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased serum lactate, Hyperglycinemia, Lacticaciduria |
OMIM:619063 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Hypokalemia, Long penis, Nephrocalcinosis, Diabetic ketoacido... |
ORPHA:769 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Lactic acidosis, Congestive heart failure, Wolff-Parkinson-White syndrome, Abnormal... |
OMIM:540000 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ... |
ORPHA:90038 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Increased serum lactate, Conge... |
ORPHA:1349 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Lactic acidosis, Increased serum lactate |
OMIM:616111 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Hyperalaninemia |
OMIM:251950 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Renal insufficiency, Severe lactic acidosis |
ORPHA:254857 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Elevated circulating creatine kinase concentration, Palpitations, Increased serum ... |
OMIM:255125 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Metabolic acidosis, Congestive heart failure |
OMIM:301021 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... |
OMIM:613388 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Increased seru... |
ORPHA:391428 |
Liver Failure, Infantile, Transient |
|
Lactic acidosis, Increased serum lactate, Hyperbilirubinemia |
OMIM:613070 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate |
OMIM:617069 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... |
OMIM:603233 |
Bardet-Biedl Syndrome 17 |
|
Renal cyst, Stage 5 chronic kidney disease, Hypogonadism, Micropenis, Polyuria |
OMIM:615994 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... |
OMIM:174000 |
Senior-Loken Syndrome 3 |
|
Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria |
OMIM:606995 |
Combined Oxidative Phosphorylation Deficiency 43 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate |
OMIM:618851 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal circulating pyruvate family amino acid concentration, Lactic acidosis, Increased serum l... |
ORPHA:255182 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Hypertension, Stage 5 chronic kidney disease |
ORPHA:3156 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level, Hypergl... |
ORPHA:941 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Proximal renal tubular acidosis, Bicarbonate-wasting renal tubular acidosis, Hyperchloremic acidosis |
OMIM:604278 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Primary Hyperoxaluria |
|
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch... |
ORPHA:416 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia |
ORPHA:1345 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Metabolic acidosis, Lactic acidosis, Increased serum lactate, Hyperammonemia |
OMIM:610678 |
Isovaleric Acidemia |
|
Metabolic acidosis, Hyperglycinuria, Ketoacidosis, Cerebellar hemorrhage |
OMIM:243500 |
Legionnaires Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Arrhythmia, Hypotension |
ORPHA:549 |
Heme Oxygenase 1 Deficiency |
|
Hypertension, Hematuria, Nephritis, Epistaxis, Increased circulating ferritin concentration, Prot... |
OMIM:614034 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Hypertension, Renal tubular acidosis, Hematuria, Renal cyst, Pulmonic stenosis,... |
OMIM:610205 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting, Hypertension |
OMIM:201910 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recu... |
OMIM:613095 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Metabolic acidosis, Hyperammonemia |
OMIM:618253 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting, Hypercalciuria |
OMIM:612286 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Increased erythrocyte protoporphyrin concentration, Abnormal circulating porphyrin ... |
ORPHA:100924 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Hypochloremic metabolic alkalosis |
OMIM:179010 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Hyperlipidemia, Postprandial hyperlactemia, Intermittent lactic acid... |
ORPHA:369 |
Glucose/Galactose Malabsorption |
|
Metabolic acidosis, Glycosuria |
OMIM:606824 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism |
OMIM:613743 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension, Increased serum lactate, Hyperglycinemia, Hyperalaninemia, Lacti... |
OMIM:619059 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis |
OMIM:266130 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney d... |
OMIM:618061 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Metabolic acidosis, Increased serum lactate |
OMIM:610090 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Hyperoxaluria, Primary, Type I |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Atrioventricular blo... |
OMIM:259900 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Pelvic kidney, Glomerulo... |
ORPHA:93101 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Hyperparathyroidism, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Renal hypoplasia, Increased serum lactate, Metabolic acidosis, Keton... |
OMIM:619053 |
Whipple Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Myocardial infarction, Gastrointestinal hemorrhage, Hypo... |
ORPHA:3452 |
Small Cell Carcinoma Of The Bladder |
|
Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria |
ORPHA:284400 |
D-Glyceric Aciduria |
|
Metabolic acidosis, Aminoaciduria, Nonketotic hyperglycinemia |
OMIM:220120 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Metabolic acidosis, Abnormal renal tubule morphology, Increased serum lactate, Hypertrophic cardi... |
OMIM:611719 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:300816 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:1192 |
Scorpion Envenomation |
|
Hypokalemia, Respiratory alkalosis, Abnormality of acid-base homeostasis, Glycosuria, Increased c... |
ORPHA:466677 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Hypophosp... |
ORPHA:2088 |
Lactic Acidosis, Chronic Adult Form |
|
Chronic lactic acidosis, Hyperuricemia |
OMIM:150170 |
Pheochromocytoma |
|
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine... |
OMIM:171300 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Metabolic acidosis, Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Hematuria, Nephritis,... |
OMIM:203780 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Hypertension, Abnormal renal cort... |
OMIM:616733 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Cardiac arrest, Increased serum lactate |
OMIM:618951 |
Glutaric Acidemia Type 3 |
|
Ketoacidosis, Glutaric aciduria, Elevated circulating glutaric acid concentration, Abnormality of... |
ORPHA:35706 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Ketoacidosis, Increased serum lactate, Hyperuricemia, Hyperammonemia, Metabolic aci... |
ORPHA:134 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis |
OMIM:612287 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney dis... |
OMIM:613550 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Lactic acidosis, Increased serum lactate |
OMIM:614946 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Micropenis, Adrenal hypoplasia, Decreased response to growth hormone ... |
OMIM:614732 |
Vipoma |
|
Hypercalcemia, Adrenocortical adenoma, Hypokalemia, Increased circulating cortisol level, Increas... |
ORPHA:97282 |
Glycogen Storage Disease Ic |
|
Hypertension, Focal segmental glomerulosclerosis, Spider hemangioma, Hyperlipidemia, Hematuria, D... |
OMIM:232240 |
Pearson Marrow-Pancreas Syndrome |
|
Renal Fanconi syndrome, 3-Methylglutaric aciduria, Metabolic acidosis, Lactic acidosis, Complex o... |
OMIM:557000 |
Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Intermittent lactic acidemia, Congestive hea... |
OMIM:302060 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Lactic acidosis, Increased serum lactate |
OMIM:604377 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
3-Methylglutaconic aciduria, Lactic acidosis, Increased serum lactate, Hyperammonemia |
OMIM:614739 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Chronic lactic acidosis, Increased serum lactate, Severe lactic acidosis, Hyperalaninemia |
OMIM:312170 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephrocalcinosis, Renal tubular acidosis, Conjugated hyperbilirubinemia, Nephropathy, Metabolic a... |
OMIM:613404 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Perrault Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Increased serum lac... |
OMIM:616138 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Lactic acidosis, Reduced systolic function, Hypoalbuminemia |
OMIM:618805 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Hyperaldosteronism, Hyperc... |
ORPHA:534 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypokalemic alkalosis |
OMIM:202110 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Metabolic acidosis, Myoglobinuria |
OMIM:602199 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Increased serum lactate |
OMIM:619196 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Lactic acidosis, Congestive heart failure |
OMIM:615440 |
Polyarteritis Nodosa |
|
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive p... |
ORPHA:767 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Renal steatosis, Lactic acidosis, Low plasma citrulline, Ketonuria |
OMIM:261680 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Increased serum lactate |
OMIM:301020 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Hypertriglyceridemia |
ORPHA:280356 |
Porphyria |
|
Hypertension, Abnormal urinary color, Abnormal circulating porphyrin concentration |
ORPHA:738 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Myoglobinuria, Elevated circulating creatine kinase concentration, V... |
OMIM:616878 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Ethylmalonic aciduria, Severe lactic acidosis, Elevated circulating creatine kinase concentration... |
OMIM:619355 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Ketoacidosis, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia |
ORPHA:1667 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Metabolic acidosis, Lactic acidosis |
OMIM:618776 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Nephropathy |
ORPHA:820 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Metabolic acidosis |
OMIM:617290 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Lactic acidosis, Increased serum lac... |
OMIM:618378 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate |
OMIM:617070 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Increased serum lactate |
OMIM:618397 |
Ochoa Syndrome |
|
Hypertension, Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoure... |
ORPHA:2704 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Elevated circulating creatinine concentration, Decreased glomerular filtration rate... |
ORPHA:730 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Metabolic acidosis |
OMIM:617222 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Metabolic acidosis, Elevated lactate:pyruvate ratio, Increased serum lactate |
OMIM:609060 |
Propionic Acidemia |
|
Cardiomyopathy, Hyperglycinemia, Hyperammonemia, Increased level of hippuric acid in urine, Hyper... |
OMIM:606054 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Ketoacidosis, Acute hyperammonemia, Hyperglycinuria, Metabolic acidosis, Organic aciduria, Ketonuria |
OMIM:210210 |
Hypotonia-Cystinuria Syndrome |
|
Lactic acidosis, Nephrolithiasis, Cystinuria, Hypocalcemia |
OMIM:606407 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Renal cortical cysts, Increased serum lactate, Hyperalaninemia, Increased serum pyruvate, Lactic ... |
OMIM:617668 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dicarboxylic aciduria, Increased serum lacta... |
ORPHA:99901 |
Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
Fructose Intolerance, Hereditary |
|
Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Hyperbilirubi... |
OMIM:229600 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:246900 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Methylmalonic aciduria, Lacticaciduria, Elevated lactate:pyruvate ratio, Hyperglycinemia, Hyperta... |
OMIM:245400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Metabolic acidosis, Proximal renal tubular acidosis |
OMIM:615824 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Increased circulating beta-C-terminal telop... |
ORPHA:157215 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Micropenis, Lactic... |
OMIM:618815 |
Combined Malonic And Methylmalonic Aciduria |
|
Ketoacidosis, Methylmalonic aciduria |
OMIM:614265 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Lactic acidosis, Increased serum lactate |
OMIM:618236 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Porphyria Variegata |
|
Hyponatremia, Hypertension, Tachycardia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Oroticaciduria, Respiratory alkalosis, Hyperammonemia, Abnormal circulating citrulline concentrat... |
ORPHA:415 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricosuria, Hyperuricemia, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... |
ORPHA:411536 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy, Lactic acidosis |
OMIM:618243 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Lacticaciduria, Elevated circulating creatine kinase concentration, Glutar... |
ORPHA:26791 |
Glutaric Aciduria Iii |
|
Hypertension, Glutaric aciduria |
OMIM:231690 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Hypertension, Elevated circulating creatinine concentration |
OMIM:619111 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Increased serum lactate |
ORPHA:238329 |
Encephalopathy, Ethylmalonic |
|
Ethylmalonic aciduria, Lactic acidosis, Acrocyanosis |
OMIM:602473 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Hypoxemia, Diabetic ketoacidosis, Abnormal blood gas level, Vasculitis, Metabolic acidosis... |
ORPHA:70578 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Hypercalcemia, Elevated urinary epinephrine, Palpitations, Hematuria, Glomer... |
ORPHA:276621 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Hypogonadotropic hy... |
OMIM:300200 |
Ethylmalonic Encephalopathy |
|
Ethylmalonic aciduria, Lactic acidosis, Acrocyanosis |
ORPHA:51188 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Intermittent lactic acidemia, Tachycardia, Hyperalaninemia, Hyperuri... |
ORPHA:348 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hypophosphatemia, Renal phosphate ... |
OMIM:612089 |
Xfe Progeroid Syndrome |
|
Hypertension, Proteinuria, Renal insufficiency |
OMIM:610965 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Increased circulating ferritin concentration, Acute kidney inj... |
OMIM:618886 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Ischemic stroke, Hypertension, Raynaud phenomenon |
OMIM:615750 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Orthostatic hypotension, Hyperuricemia, Hypotension |
ORPHA:199299 |
Tetanus |
|
Hypertension, Elevated urinary epinephrine, Elevated circulating creatine kinase concentration, T... |
ORPHA:3299 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Hypertriglyceridemia |
OMIM:608600 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Metabolic acidosis |
OMIM:618224 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Decreased plasma free carnitine, Tubulointerstitial nephritis, Myoglobinu... |
ORPHA:228308 |
Glutaric Acidemia I |
|
Metabolic acidosis, Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria |
OMIM:231670 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Metabolic alkalosis, Hypokalemia, Budd-Chiari syndrome, Hyperbilirub... |
ORPHA:88673 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency |
OMIM:204690 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Lactic acidosis, Elevated circulating L-alloisoleucine... |
OMIM:248600 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Increased serum lactate, Mildly elevated creatine kinase |
ORPHA:663 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Nephrotic syndrome, Elevated circulating creatine kinase concentrati... |
OMIM:607426 |
Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Raynaud phenomenon |
ORPHA:401945 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic seizures, Hypoca... |
OMIM:618883 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Methylmalonic aciduria, Hyperglycinemia, Hyperammonemia, Metabolic acidos... |
OMIM:251110 |
Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
Familial Cervical Artery Dissection |
|
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Subara... |
ORPHA:36382 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketoacidosis, Ketonuria |
OMIM:616095 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Primary hyperparathyroidism, Parathyroid carcinoma, Nephrolithiasis |
OMIM:617343 |
Posterior Urethral Valve |
|
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... |
ORPHA:93110 |
Glycogen Storage Disease 0, Liver |
|
Increased serum lactate |
OMIM:240600 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micropenis, Nephroblastoma |
ORPHA:52022 |
Familial Dysautonomia |
|
Orthostatic hypotension, Hyponatremia, Hypertension, Tachycardia |
ORPHA:1764 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrocalcinosis, Renal tubular acidosis, Conjugated hyperbilirubinemia, Nephropathy, Metabolic a... |
OMIM:208085 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, M... |
OMIM:618620 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Lactic acidosis, Increased serum lactate |
OMIM:600462 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Renal tubular atrophy, Hypertension, Decreased HDL cholesterol concentration, Tubulointerstitial ... |
ORPHA:85450 |
Frasier Syndrome |
|