Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine, Elevated uridine in urine |
OMIM:618477 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Hypertension, Essential |
|
Elevated diastolic blood pressure, Elevated systolic blood pressure, Elevated mean arterial pressure |
OMIM:145500 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal potassium wasting, Renal magnesium ... |
ORPHA:564178 |
Liddle Syndrome 3 |
|
Metabolic alkalosis, Hypokalemia |
OMIM:618126 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassiu... |
OMIM:607364 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... |
OMIM:264350 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
Liddle Syndrome |
|
Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Renal insufficiency, Arrhythmia |
ORPHA:526 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Hypocalcemic seizures, Parathyroid agenesis, Hypomagnesemia, Hypoc... |
ORPHA:2239 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Nephrolithiasis, Pancreatitis, Hypocalciuria, Hyperparathyroidism, Hypermagnesemia... |
OMIM:145980 |
Neuroblastoma |
|
Elevated urinary catecholamines |
ORPHA:635 |
Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... |
OMIM:601198 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hypokalemia, Hyperaldostero... |
OMIM:613677 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Hyperprolinemia Type 1 |
|
Prolinuria, Proteinuria, Nephropathy |
ORPHA:419 |
Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting, Increased circulating renin level, Hyperaldosteronism |
OMIM:619406 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Hyp... |
OMIM:248190 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... |
OMIM:145981 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hyperaldosteronism, Abnorm... |
ORPHA:199343 |
Immunodeficiency 69 |
|
Leukocytosis, Thrombocytosis, Failure to thrive, Anemia, Splenomegaly, Increased circulating ferr... |
OMIM:618963 |
Hypomagnesemia, Seizures, And Mental Retardation 1 |
|
Hypomagnesemia |
OMIM:616418 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal potas... |
OMIM:612780 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... |
ORPHA:556037 |
Liddle Syndrome 2 |
|
Metabolic alkalosis, Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperpr... |
ORPHA:73224 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Hypomagnesemia, Hypermagnesiuria |
ORPHA:34527 |
Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... |
OMIM:248250 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... |
OMIM:616963 |
Gastric Cancer |
|
Increased level of L-fucose in urine |
OMIM:613659 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... |
ORPHA:556030 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Abnormality of the urinary ... |
OMIM:103900 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism |
OMIM:613743 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... |
OMIM:613090 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... |
OMIM:177735 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hypokalemia, Alkalosis |
OMIM:304900 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Increase... |
OMIM:203400 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Liddle Syndrome 1 |
|
Metabolic alkalosis, Decreased circulating renin level, Hypokalemia, Hypokalemic alkalosis |
OMIM:177200 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Neoplasm of the adrenal gland, Intracranial hemorrhage, Abnormal T-wave, Decreased ... |
ORPHA:231625 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Hypokalemia, A... |
ORPHA:251274 |
Helix Syndrome |
|
Hypokalemia, Xerostomia, Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Anhidrosis, Hypohid... |
OMIM:617671 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypokalemia, Palpitations, Ventricular tachycardia, Hypomagnesemia, Hypoca... |
OMIM:263800 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... |
OMIM:600740 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Ketoacidosis, Respiratory alkalosis, Increased serum lactate, Hyperammonemia, Hyperalaninemia, Me... |
OMIM:615751 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Hypokalemic alka... |
OMIM:241150 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... |
OMIM:616818 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Parathormone-independent increased renal t... |
ORPHA:405 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Adamantinoma |
|
Hypercalcemia, Pathologic fracture |
ORPHA:55881 |
Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Hypermagnesiuria, Hyper... |
ORPHA:428 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Chronic kidney disease, Pulmonary arterial hypertension, Hyperuricemia, Hypomagnese... |
OMIM:613845 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... |
OMIM:603965 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hypokalemia, Increased urin... |
ORPHA:231580 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hyperchloremic metabolic acidosis, Hypokalemia, Hepatosplenomegaly, Metabolic acidosis, Reticuloc... |
OMIM:611590 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... |
OMIM:602522 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... |
OMIM:134600 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyper... |
OMIM:601678 |
Colchicine Poisoning |
|
Myocarditis, Hyponatremia, Hypokalemia, Hypophosphatemia, Cardiogenic shock, Hypomagnesemia, Olig... |
ORPHA:31824 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... |
OMIM:137950 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Distal renal tubular acidosis, Hypercalciuria, Hypokalemia, Nephrocalcinosis |
OMIM:602722 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... |
OMIM:300971 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617609 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Sterile arthritis, Arthritis, Knee flexion contracture, Hepatosplenomegaly, Micro... |
OMIM:604416 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Bone cyst, Anemia |
ORPHA:2668 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Orthostatic hypotension, Inc... |
OMIM:610600 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency |
OMIM:161900 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... |
ORPHA:404 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... |
OMIM:601894 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... |
ORPHA:403 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Ortho... |
ORPHA:427 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Nephrocalcinosis, Renal tubular acidosis, Hyperparathyroidism, Hypercalciuria |
OMIM:239199 |
Hydroxykynureninuria |
|
Aminoaciduria, Renal tubular dysfunction, Tachycardia, Hypotension |
OMIM:236800 |
Familial Isolated Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosi... |
ORPHA:99879 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting, Hypercalciuria |
OMIM:612286 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin... |
ORPHA:101016 |
Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... |
OMIM:300555 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Tachycardia, Hyp... |
OMIM:145600 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Metabolic alkalosis, Hyponatremia, Hypokalemia, Hypochloremia, Alkalosis |
OMIM:214700 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... |
OMIM:613388 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Decreased plasma free carnitine, Ventricular hypertrophy, Bradycardia, Hyperalaninemia, Left vent... |
OMIM:619048 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension |
OMIM:156310 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
Idiopathic Hypercalciuria |
|
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis |
ORPHA:2197 |
His Bundle Tachycardia |
|
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Osteopenia |
OMIM:617343 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Micropenis, Adrenal hypoplasia, Decreased response to growth hormone ... |
OMIM:614732 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... |
OMIM:241520 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Nephrocalcinosis |
OMIM:267200 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokal... |
OMIM:241200 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Proximal tubulopathy, Decreased ... |
ORPHA:18 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... |
ORPHA:369929 |
Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Decreased circulating renin level, Hypokalemia, Epistaxis, Renal cortical adenoma, ... |
ORPHA:231632 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... |
OMIM:614131 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Apparent Mineralocorticoid Excess |
|
Metabolic alkalosis, Decreased circulating renin level, Hypokalemia |
OMIM:218030 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Weight loss, Salmonella osteomyelitis, Anemia, Splenomegaly, Hepato... |
OMIM:209950 |
Congenital Tricuspid Stenosis |
|
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... |
ORPHA:95459 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:615573 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Failure to thrive, Reduced bone mineral density, Splenomegaly, Hypoc... |
ORPHA:172 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... |
OMIM:616201 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Nephrocalcinosis, Increased urin... |
ORPHA:89938 |
Hypophosphatasia |
|
Hypercalcemia, Failure to thrive in infancy, Craniosynostosis, Anemia, Recurrent fractures |
ORPHA:436 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Tachycardia, Hypokalemia |
OMIM:613239 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting, Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypertension, Myoglobinuria, Hypernatremia, Elevated circulating crea... |
ORPHA:94093 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Orthostatic hypotension, Syncope |
OMIM:143850 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia, Hypokalemia |
OMIM:188580 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
OMIM:242600 |
Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
ORPHA:42062 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia, Anemia, Thrombocytopenia |
ORPHA:2123 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Gitelman Syndrome |
|
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... |
ORPHA:358 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Abnormal urine so... |
ORPHA:320 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Prolonged QT interval, Episodic hy... |
ORPHA:79102 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Perimembranous ventricular septal defect, Bradycardia, ... |
OMIM:618782 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine, Elevated systolic bl... |
OMIM:300539 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot... |
ORPHA:3337 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Septic arthritis, Lymphopenia, Pancytope... |
OMIM:617780 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Elevated circulating creatine kinase concentration, Atrioventr... |
OMIM:212138 |
Rhabdoid Tumor |
|
Hypercalcemia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:69077 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... |
OMIM:227810 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia, Hypertension |
OMIM:145260 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Nephrolithiasis, Pulmonic stenosis, Infantile hypercalcemia, Aortic valve steno... |
OMIM:143880 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... |
ORPHA:439232 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia, Low plasma... |
OMIM:237300 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia, Hyperalaninemia |
OMIM:614654 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Hypochloremic metabolic alkalosis |
OMIM:179010 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal Fanconi syndrome, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Proximal tu... |
ORPHA:411634 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Renal salt wasting |
OMIM:614736 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Increased circulating beta-C-terminal telop... |
ORPHA:157215 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Increased bone mine... |
OMIM:231095 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis |
OMIM:617222 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, Hypotensio... |
ORPHA:199296 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Enamel-Renal Syndrome |
|
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... |
ORPHA:1031 |
Pseudohypoaldosteronism, Type Iic |
|
Metabolic acidosis, Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Metabolic acidosis, Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis |
OMIM:614496 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Tetralogy of Fallot,... |
OMIM:601005 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Conge... |
ORPHA:361 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Episodic ammonia... |
OMIM:311250 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... |
OMIM:616689 |
Aa Amyloidosis |
|
Adrenal insufficiency, Nephrotic syndrome, Hypotension, Acute kidney injury, Nephropathy, Hypothy... |
ORPHA:85445 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Hypovolemic shock, Abnormal circulating aldosterone, Glucocortocoid-i... |
ORPHA:171876 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hypertension, Hyperchloremia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hypertension, Hyperchloremia |
OMIM:614495 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:600995 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Nephrotic synd... |
ORPHA:330001 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroidism... |
OMIM:618183 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Calvarial osteosclerosis, Osteopenia, Metacarpal periosteal thickening, Hyperphosp... |
OMIM:617994 |
Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
Primary Membranoproliferative Glomerulonephritis |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... |
ORPHA:54370 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin |
OMIM:616299 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hematochezia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... |
OMIM:174000 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, Arthritis, Increased bone... |
ORPHA:2485 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome |
OMIM:614650 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Hypophosphatemic Rickets |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosi... |
ORPHA:437 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Nephropathy |
ORPHA:2820 |
Cystinosis |
|
Portal hypertension, Renal tubular dysfunction, Hypokalemia, Hypophosphatemia, Nephropathy, Amino... |
ORPHA:213 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Micropenis |
OMIM:618815 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, ... |
ORPHA:91354 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Mercury Poisoning |
|
Hypertension, Hypokalemia, Tachycardia, Acute kidney injury, Hypotension |
ORPHA:330021 |
Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... |
ORPHA:166119 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome |
ORPHA:839 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegal... |
OMIM:259700 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Hypertension |
ORPHA:757 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Hyponatremia, Hyperkalemia, Increased serum testosterone level, Decreased circulatin... |
ORPHA:90791 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Trimethylaminuria |
|
Trimethylaminuria, Hypertension, Tachycardia |
OMIM:602079 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Decreased circulating renin level, Hypokalemia, Pulmonary arterial hypertension, Ne... |
OMIM:615474 |
Galactosemia I |
|
Increased level of galactitol in urine, Galactosuria, Albuminuria, Aminoaciduria |
OMIM:230400 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Androgen insufficiency, Decreased circulating aldoster... |
ORPHA:95409 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... |
OMIM:610725 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaconic aciduria, Bradycardia |
OMIM:617248 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome |
OMIM:614196 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Adrenal insufficiency, Hypernatriuria, Decreased circulating cortisol level |
OMIM:103230 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Cong... |
ORPHA:682 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612926 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... |
OMIM:300009 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... |
OMIM:614817 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... |
ORPHA:84090 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Cholera |
|
Abnormality of renal excretion, Hyponatremia, Hypovolemic shock, Decreased urine output, Hypokale... |
ORPHA:173 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketoacidosis, Episodic ketoacidosis, Increased serum lactate, Hyperammonemia, Lactic acidosis |
OMIM:615453 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Cachexia, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis,... |
ORPHA:824 |
Nephronophthisis 2 |
|
Hyperkalemia, Hypertension, Pulmonary insufficiency, Chronic tubulointerstitial nephritis, Nephro... |
OMIM:602088 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Hypophosphatasia, Infantile |
|
Hypercalcemia, Decreased calvarial ossification, Failure to thrive, Increased susceptibility to f... |
OMIM:241500 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Congenital hypoparathyroidism, Hypocalcemia |
OMIM:244460 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis |
OMIM:612287 |
Snakebite Envenomation |
|
Hyponatremia, Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic sho... |
ORPHA:449285 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hypotension |
ORPHA:369873 |
Citrullinemia Type I |
|
Elevated plasma citrulline, Respiratory alkalosis, Hyperammonemia |
ORPHA:247525 |
Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphaturia, Calcinosis, Ami... |
OMIM:239200 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Tetanus |
|
Hypertension, Elevated urinary epinephrine, Elevated circulating creatine kinase concentration, T... |
ORPHA:3299 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... |
ORPHA:210110 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Lactic acidosis, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617006 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubula... |
ORPHA:47159 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... |
OMIM:600858 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Uremic Pruritus |
|
Hypercalcemia, Stage 5 chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphate... |
ORPHA:94059 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Increased serum testosterone level, Increased circulating androstenedione concentra... |
ORPHA:90795 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Hypogonadotropic hy... |
OMIM:300200 |
Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia, Increased body weight |
ORPHA:94086 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, W... |
ORPHA:398063 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Renal hypoplasia, Syncope, Renal tubular dysfunction, Prominent U wave, B... |
ORPHA:37553 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
Hypokalemic Periodic Paralysis |
|
Mildly elevated creatine kinase, Episodic hypokalemia |
ORPHA:681 |
Glucocorticoid Resistance, Generalized |
|
Metabolic alkalosis |
OMIM:615962 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density |
OMIM:618406 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hypertension, Pheochromocytoma, Elevated urinary epinephrine, Elevated urinary vanillylmandelic a... |
OMIM:171400 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin... |
OMIM:300554 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ... |
OMIM:614034 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Lactic Acidosis, Chronic Adult Form |
|
Chronic lactic acidosis, Hyperuricemia |
OMIM:150170 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... |
OMIM:274150 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Abnormal aortic morphology, Cardiomyopathy, Hyperuricemia, Renal insufficiency, Arr... |
ORPHA:3222 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Lactic acidosis, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomegaly, Bradycardia, Cardiomyopathy, Congestive heart failure, S... |
OMIM:261740 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Variegate Porphyria |
|
Porphyrinuria, Tachycardia |
OMIM:176200 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Infantile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Hypokalemia, Abnormal tubul... |
ORPHA:411629 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Osteopenia, Hypocalcemia |
OMIM:619073 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Osteomalacia |
ORPHA:89937 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Hypophosp... |
ORPHA:2088 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
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 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a... |
ORPHA:289548 |
Familial Dilated Cardiomyopathy |
|
Abnormal circulating creatine kinase concentration, Right ventricular dilatation, Atrial fibrilla... |
ORPHA:217607 |
Addison Disease |
|
Androgen insufficiency, Adrenal hypoplasia, Type I diabetes mellitus, Renal salt wasting, Increas... |
ORPHA:85138 |
Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
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 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine... |
OMIM:171420 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Arrhyt... |
ORPHA:57 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Cardiogenic Shock |
|
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated circulating creatin... |
ORPHA:97292 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia |
OMIM:615883 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
Pearson Syndrome |
|
Adrenal insufficiency, Hypoparathyroidism, Hypokalemia, Lacticaciduria, Cardiac conduction abnorm... |
ORPHA:699 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... |
ORPHA:566943 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalce... |
ORPHA:53 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... |
ORPHA:99845 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... |
OMIM:619155 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Elevated circulating follicle stimulating hormon... |
ORPHA:90793 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Abnormal heart morphology, Bradycardia, Hypotension |
ORPHA:391673 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria |
OMIM:615605 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Hypothyroidism, Hypocalcemia, Lacunar strok... |
OMIM:618440 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia |
ORPHA:35710 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Rickets, Iron deficiency anemia, Failure to thrive, Weight los... |
OMIM:212750 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating neopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal... |
ORPHA:1578 |
Relapsing Fever |
|
Abnormality of the urinary system, Hematuria, Elevated circulating creatinine concentration, Epis... |
ORPHA:91547 |
Amyloidosis, Familial Visceral |
|
Hematuria, Nephropathy, Proteinuria, Nephrotic syndrome |
OMIM:105200 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration, Hypotension |
ORPHA:79155 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Wilson Disease |
|
Hyperphosphaturia, Hypoparathyroidism, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis,... |
OMIM:277900 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Abnormal heart morpho... |
OMIM:614954 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... |
OMIM:612158 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Patent foramen ovale, Prolonged PR interval, Sick sinus s... |
ORPHA:542306 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased bone mineral density |
ORPHA:37748 |
Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:603278 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, Microscopic he... |
ORPHA:567544 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Failure to thrive, Anemia, Lymphopenia, Joint stiffness, Elevated cir... |
OMIM:615934 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest |
OMIM:614916 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia, Recur... |
OMIM:611490 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia, Organic aciduria, Hyperammonemia |
ORPHA:35 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Episodic hemolytic anemia, Craniosynostosis, Increased blood urea nitrogen, Obesit... |
ORPHA:251004 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Elevated circulating creatine kinase concentration, Metabolic alkalosis, Increased serum lactate |
OMIM:616239 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Anemia, Hypocalcemia |
ORPHA:100025 |
X-Linked Hypophosphatemia |
|
Hypocalciuria, Renal phosphate wasting, Hypophosphatemia |
ORPHA:89936 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Nelson Syndrome |
|
Hypertension, Increased urinary cortisol level, Intracranial hemorrhage, Type II diabetes mellitu... |
ORPHA:199244 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephropa... |
ORPHA:37042 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalcemia, Hypoparathyroidism, Nephrocalcinosis, Hypophosphatemia, Hyperca... |
OMIM:156400 |
Primary Hyperoxaluria |
|
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Aciduria, Stage 5 ch... |
ORPHA:416 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... |
OMIM:615373 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Dicarboxylic aciduria, Cardiomyopathy, Elevated creatine kinase after ex... |
ORPHA:159 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:608709 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... |
OMIM:603233 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy |
OMIM:612999 |
Kenny-Caffey Syndrome, Type 2 |
|
Small for gestational age, Thickened cortex of long bones, Anemia, Increased bone mineral density... |
OMIM:127000 |
Legionnaires Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Hematuria, Pancreatitis, Arrhythmia, Proteinuria, Renal ... |
ORPHA:549 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Increased circu... |
OMIM:615954 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
Infantile Myofibromatosis |
|
Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis |
ORPHA:2591 |
Majeed Syndrome |
|
Leukocytosis, Cachexia, Hypochromic microcytic anemia, Synovitis, Failure to thrive, Congenital h... |
ORPHA:77297 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis, Hyperammonemia |
OMIM:614111 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Sinus bradycardia, Elevated circulating creatine kinase concentration, Atrioventricular ... |
OMIM:616812 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomeg... |
OMIM:259710 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... |
OMIM:615244 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
OMIM:202010 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal tubular dysfunction, Hypophosphatemia, Renal phosphate wasting, Calcium nephrolithiasis, Hy... |
OMIM:241530 |
Coproporphyria, Hereditary |
|
Increased urinary porphobilinogen, Hypertension, Tachycardia, Elevated urinary delta-aminolevulin... |
OMIM:121300 |
Citrullinemia, Classic |
|
Respiratory alkalosis, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Episodic ammonia intox... |
OMIM:215700 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis |
OMIM:607634 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse |
OMIM:614676 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Anem... |
ORPHA:29073 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Proteinuria,... |
OMIM:254900 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... |
OMIM:618849 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypertension, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria,... |
ORPHA:90038 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... |
ORPHA:90794 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... |
ORPHA:786 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Decreased urine output, Reduced ejection fraction, Elevated circulating creatinine concentration,... |
ORPHA:542323 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Macrocytic anemia, Normocytic anemia, Generalized bone demineralizat... |
ORPHA:199299 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... |
OMIM:102730 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... |
OMIM:618349 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Alkalosis |
OMIM:219090 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Leprechaunism |
|
Hypertrophic cardiomyopathy, Central hypothyroidism, Hypokalemia, Long penis, Nephrocalcinosis, H... |
ORPHA:508 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circulating creatinin... |
OMIM:235400 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Weight loss, Osteopenia |
ORPHA:97289 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypertension, Shock, Renal tubular dysfunction, Decreased urine output, Prolonged Q... |
ORPHA:31826 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hypocalcemic seizures, Calvarial... |
ORPHA:93324 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Poems Syndrome |
|
Thrombocytosis, Sclerosis of foot bone, Polycythemia, Weight loss, Sclerosis of hand bone, Sclero... |
ORPHA:2905 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |