Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Increased ci... |
OMIM:610600 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... |
ORPHA:556037 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... |
ORPHA:556030 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Increased circulatin... |
OMIM:177735 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Hypotension, Increased circulating re... |
OMIM:203400 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronis... |
OMIM:103900 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Elevated aldolase level, Type 2 muscle fiber a... |
ORPHA:99845 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Abnormal enzyme/coenzyme activity, Macroscopic ... |
ORPHA:976 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldoster... |
OMIM:214700 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldosteronism, Arrhyth... |
ORPHA:171876 |
Liddle Syndrome |
|
Hypokalemia, Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension |
ORPHA:526 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Small for gestational ag... |
OMIM:218030 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Orthostatic hy... |
ORPHA:427 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... |
OMIM:614723 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Hypotension, Hyponat... |
OMIM:264350 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Ren... |
OMIM:619468 |
Renal Glucosuria |
|
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna |
OMIM:233100 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Hyperten... |
OMIM:613677 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein,... |
OMIM:613095 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension |
OMIM:605115 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polyuria, Hypokalemia, Hydronephrosis, Polydipsia |
OMIM:304900 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... |
OMIM:616963 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... |
ORPHA:404 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hypocalcemia, Incre... |
OMIM:601198 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hypotension, Adrenal hypoplasia, Hepatitis, Hyponatremia, P... |
ORPHA:199296 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia |
OMIM:222100 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... |
ORPHA:159 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... |
ORPHA:403 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... |
ORPHA:95409 |
Nephronophthisis 1 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... |
OMIM:256100 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Epistaxis, Hyp... |
ORPHA:231580 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Increased circulating cortisol level... |
ORPHA:231625 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Hyperten... |
OMIM:618114 |
Senior-Loken Syndrome 4 |
|
Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... |
ORPHA:31824 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria |
OMIM:613090 |
Apparent Mineralocorticoid Excess |
|
Polydipsia, Hypokalemia, Left ventricular hypertrophy, Abnormal urine sodium concentration, Renal... |
ORPHA:320 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hypokalemia, Increased circulating renin level, Hypotension... |
OMIM:607364 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxis, Hyperc... |
ORPHA:251274 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Ovarian cyst, Abnormal response to ACTH stimulation test, I... |
ORPHA:90793 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hypomagnesemia, Hypokalemia, Small for g... |
OMIM:601678 |
Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... |
ORPHA:85138 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ... |
ORPHA:90794 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Hyperten... |
OMIM:177200 |
Cystinosis |
|
Renal tubular dysfunction, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephropathy,... |
ORPHA:213 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Infantile hy... |
OMIM:143880 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Renal insuff... |
OMIM:134600 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Polydipsia, Abnormal urinary electrolyte concentration, Salt craving... |
ORPHA:199343 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Muscle fiber atrophy, Elevated creatine kinase after exercise, EMG: myopathic abnormalities, Redu... |
ORPHA:57 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria |
OMIM:602522 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Chronic kidney disease, Type 2 muscle fiber atrophy, Polyuria, Hyperechogenic kid... |
OMIM:613845 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Palpitations, Increas... |
OMIM:263800 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Systemic Capillary Leak Syndrome |
|
Abnormal renal tubule morphology, Arrhythmia, Myocarditis, Hypotension, Oliguria, Renal insuffici... |
ORPHA:188 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hypomagnesemia, Hypokalemia, Severe fail... |
ORPHA:89938 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypokalemia, Left ventricular hypertrophy, Ventricular septal defect, Biventricu... |
OMIM:615474 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Hyperte... |
OMIM:202010 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Elevated systolic blood pressure, Decreased serum creatinine, ... |
OMIM:300539 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Elevated circulating creatine kinase concentration, Acute rhabdomyolysis, Increase... |
OMIM:268200 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Ovarian neoplasm, Decreased circulating renin level, Epistaxis, Hypertension, Glucoc... |
ORPHA:231632 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubu... |
ORPHA:411634 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elevated circulating creat... |
ORPHA:340 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Polydipsia, Hypokalemia, Intracranial hemorrhage, Ventricular septal defect, Sec... |
ORPHA:369929 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... |
ORPHA:564178 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Salt craving, Increased circula... |
OMIM:612780 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Flexion contracture, Oliguria, Renal insufficiency, Hypertensive cris... |
ORPHA:220393 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hypomagnesemia, Hypokalemia, Small for g... |
OMIM:241200 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... |
OMIM:248250 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Hypokalemia, Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicarbonate,... |
OMIM:604278 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
Nephronophthisis 4 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... |
OMIM:606966 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... |
OMIM:601894 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis, Hypercalciuria |
OMIM:602722 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Precocious puberty, Hypokalemia, Decreased circulating cortis... |
ORPHA:90795 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Elevated circulating alkaline phosphata... |
OMIM:227810 |
Helix Syndrome |
|
Nephrolithiasis, Polydipsia, Hypokalemia, Polyuria, Hypocalciuria, Renal insufficiency, Hypermagn... |
OMIM:617671 |
Nephronophthisis 3 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... |
OMIM:604387 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Microscopic Polyangiitis |
|
Arrhythmia, Hematuria, Vasculitis, Oliguria, Renal insufficiency, Glomerulopathy, Gastrointestina... |
ORPHA:727 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Polydipsia, Nephronophthisis, Polyuria, Tubulointerstitial ... |
OMIM:266900 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hyponatremia, Cryptorchidism, H... |
OMIM:614736 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Lassa Fever |
|
Oliguria, Shock, Dysphagia, Jaundice |
ORPHA:99824 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Precocious puberty, Decreased response to growth hormone ... |
ORPHA:91354 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Increased body weight, Adrenal hyperplasia, Primary hyperco... |
OMIM:615830 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hypercortisol... |
OMIM:219080 |
Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Myocarditis, Hypotens... |
ORPHA:319213 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Adrenal hypoplasia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... |
ORPHA:54370 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia |
OMIM:618126 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... |
OMIM:161900 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Polyuria, Hypernatremia, Polydipsia |
OMIM:125800 |
Senior-Loken Syndrome 3 |
|
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... |
OMIM:606995 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Hypernatremia, Polydipsia |
OMIM:304800 |
Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Heart murmur, Oliguria, Aortic regurgitation, Congestive heart failure |
ORPHA:1054 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... |
ORPHA:95619 |
Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Elevated circulating growth hormone concentration, Tricuspid regurgita... |
ORPHA:97287 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis |
OMIM:267200 |
Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Tricuspid regurgitation, C... |
ORPHA:100080 |
Nephronophthisis 2 |
|
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... |
OMIM:602088 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Hypovolemic shock, Tachycardia, Hypote... |
ORPHA:173 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chron... |
OMIM:615994 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Hypophosphatemia, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calcinosis,... |
OMIM:239200 |
Exercise-Induced Malignant Hyperthermia |
|
Decreased liver function, Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depr... |
ORPHA:466650 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome |
OMIM:201910 |
Gaisböck Syndrome |
|
Angina pectoris, Hypovolemia, Hyperproteinemia, Increased circulating renin level, Hypertriglycer... |
ORPHA:90041 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Polydipsia, Hypokalemia, Aminoaciduria, Hyperuricosuria, Hypovolemia, Glycosuria... |
ORPHA:47159 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration, Tachycardia, Hypotension, Rhab... |
OMIM:145600 |
Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Isothenuria |
OMIM:611590 |
Renal Hypoplasia |
|
Chronic kidney disease, Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, ... |
ORPHA:93101 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... |
ORPHA:199299 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Increased circulating lactate dehydrogenase concentration |
ORPHA:514 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... |
ORPHA:3337 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:613944 |
Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... |
ORPHA:101016 |
Nail-Patella-Like Renal Disease |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... |
OMIM:603965 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension |
OMIM:267430 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia, Myopathy |
OMIM:613345 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Nephrotic range proteinuria, Hypertension, Myocarditis, Oliguria, Acute kidney inju... |
ORPHA:544482 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... |
OMIM:616818 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Elevated hepatic transaminase, Elevated... |
ORPHA:542323 |
Nephronophthisis 11 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disinteg... |
OMIM:613550 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Tricuspid regurgitation, C... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Tricuspid regurgitation, C... |
ORPHA:100082 |
Mercury Poisoning |
|
Hypokalemia, Tachycardia, Hypotension, Acute kidney injury, Hypertension |
ORPHA:330021 |
Sepsis In Premature Infants |
|
Decreased liver function, Elevated circulating C-reactive protein concentration, Tachycardia, Hyp... |
ORPHA:90051 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Pul... |
ORPHA:567548 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome |
OMIM:202110 |
Cystinosis, Nephropathic |
|
Polydipsia, Glycosuria, Hematuria, Proteinuria, Skeletal muscle atrophy, Stage 5 chronic kidney d... |
OMIM:219800 |
Erythrocytosis, Familial, 2 |
|
Failure to thrive, Elevated circulating erythropoietin concentration, Cerebral hemorrhage, Hypote... |
OMIM:263400 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Reduced renal corticomedullary differentiation, Recurrent urinary tract infections, E... |
ORPHA:731 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, ... |
ORPHA:411629 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189439 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... |
ORPHA:423 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Flexion contracture, Skeletal muscle hypertrophy, Elevated circulating creatine kina... |
ORPHA:682 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Hemoglobinuria, Increased circulating lactate dehydrogenase concentration, Myocardia... |
ORPHA:90038 |
Gitelman Syndrome |
|
Polydipsia, Proteinuria, Renal potassium wasting, Prolonged QT interval, Renal tubular acidosis, ... |
ORPHA:358 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Polydipsia, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, Lo... |
ORPHA:18 |
Ochoa Syndrome |
|
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... |
ORPHA:2704 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... |
ORPHA:293978 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Hematemesis, Tricuspid reg... |
ORPHA:100075 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Hyperthyroidism, Palpitations, Tachycardia, Weight loss, Goiter |
OMIM:188580 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189427 |
Scorpion Envenomation |
|
Glycosuria, Elevated circulating aspartate aminotransferase concentration, Myocarditis, Bundle br... |
ORPHA:466677 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Tachycardia, Weight lo... |
OMIM:613239 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... |
ORPHA:84090 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... |
OMIM:235400 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Failure to thrive, Elevated circulating alkaline phosphatase concentrat... |
ORPHA:275761 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Increased circulating c... |
ORPHA:786 |
Thyrotoxic Periodic Paralysis |
|
Hypomagnesemia, Abnormal muscle fiber morphology, Episodic hypokalemia, Transient hypophosphatemi... |
ORPHA:79102 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension |
OMIM:607832 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Hypocalcemia, Tachycardia, Hematuria, Hypotension, Atrial fibrillation... |
ORPHA:31826 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hematochezia, Hypertriglyceridemia, Hypo... |
OMIM:618183 |
Non-Functioning Pituitary Adenoma |
|
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... |
ORPHA:91349 |
Oligomeganephronia |
|
Polydipsia, Secundum atrial septal defect, Congenital diaphragmatic hernia, Decreased glomerular ... |
ORPHA:2260 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia, Myopathy |
OMIM:170400 |
Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
Leprechaunism |
|
Failure to thrive, Hyperinsulinemia, Hypokalemia, Decreased body weight, Increased circulating re... |
ORPHA:508 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:161950 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Proteinuria, Hyperuricemia, Elevated cir... |
ORPHA:94093 |
Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology, Episodic hypokalemia... |
ORPHA:681 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... |
OMIM:212138 |
Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis, Right ventricu... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Increased serum serotonin, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis, Right ventricu... |
ORPHA:100077 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Central adrenal insufficiency, Increased circulating prolactin conce... |
ORPHA:91347 |
Chromosome 5Q12 Deletion Syndrome |
|
Decreased body mass index, Hypotension |
OMIM:615668 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Hypertension, S... |
OMIM:603278 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Pituitary Adenoma 4, Acth-Secreting |
|
Nephrolithiasis, Hypertension, Hypokalemia, Skeletal muscle atrophy |
OMIM:219090 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Epistaxis, Tachycardia, Hypotension, Incre... |
ORPHA:91547 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Hypovolemia, Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality of the... |
ORPHA:223 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Pearson Syndrome |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Lacticaciduria, Hepatic failure, Gly... |
ORPHA:699 |
Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Hypotension, Increased circulating procalc... |
ORPHA:36238 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Proximal tubulopathy |
OMIM:560000 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension |
OMIM:156310 |
Osteootohepatoenteric Syndrome |
|
Hypokalemia, Grade II vesicoureteral reflux, Proteinuria, Prolonged neonatal jaundice, Increased ... |
OMIM:619377 |
Aa Amyloidosis |
|
Adrenal insufficiency, Hypotension, Hypothyroidism |
ORPHA:85445 |
Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis |
OMIM:204690 |
Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Polydipsia, Elevated circulating alkaline phosphatase conc... |
ORPHA:84081 |
Duodenal Neuroendocrine Tumor |
|
Melena, Elevated circulating growth hormone concentration, Hematemesis, Glucagonoma, Hepatic fail... |
ORPHA:100076 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Alcohol-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Exercise-indu... |
OMIM:154275 |
Congenital Hypothyroidism |
|
Abnormality of the thyroid gland, Prolonged neonatal jaundice, Thyroid dysgenesis, Arrhythmia, An... |
ORPHA:442 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Hyperkalemia |
OMIM:141000 |
Rabson-Mendenhall Syndrome |
|
Polydipsia, Hypokalemia, Atrial septal defect, Macroglossia, Increased C-peptide level, Long peni... |
ORPHA:769 |
Prolactinoma |
|
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... |
ORPHA:2965 |
Whipple Disease |
|
Cachexia, Myocarditis, Hypotension, Hypothyroidism, Myocardial infarction, Hyponatremia, Gastroin... |
ORPHA:3452 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Limb hypertonia, Hyperechogenic kidneys, Tubulointerstitial nephr... |
OMIM:617595 |
Adult Acute Respiratory Distress Syndrome |
|
Diabetic ketoacidosis, Vasculitis, Shock, Hypotension |
ORPHA:70578 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Alcohol-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Exercise-indu... |
OMIM:154276 |
Duplication Of Urethra |
|
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Micropenis, Hyper... |
ORPHA:237 |
Perry Syndrome |
|
Weight loss, Hypotension |
ORPHA:178509 |
Central Diabetes Insipidus |
|
Polydipsia, Nocturia, Hyponatremia |
ORPHA:178029 |
Nelson Syndrome |
|
Quadriceps muscle atrophy, Hypokalemia, Intracranial hemorrhage, Lower limb muscle weakness, Hype... |
ORPHA:199244 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess |
OMIM:613743 |
Pde4D Haploinsufficiency Syndrome |
|
Elevated circulating parathyroid hormone level, Obesity, Cryptorchidism, Hypotension |
ORPHA:439822 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
OMIM:300200 |
Yellow Fever |
|
Supraventricular arrhythmia, Hyperbilirubinemia, Hematemesis, Elevated circulating creatine kinas... |
ORPHA:99829 |
Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Hypergonadotropic hypogonadism, Intracranial hemorr... |
OMIM:617053 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria, Hypertension |
ORPHA:220 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hematochezia, Hypocalcemia |
OMIM:175500 |
Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Elevated total serum tryptase, Hypotension, Telangiec... |
ORPHA:79455 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Elevated circulating C-reactive protein concentration, Atrial septal defect, Atriove... |
OMIM:619573 |
Hepatocellular Carcinoma |
|
Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Budd-Chiari syndrome, Hypotension, El... |
ORPHA:88673 |
Neuroendocrine Neoplasm Of Appendix |
|
Increased serum serotonin, Adrenocorticotropic hormone excess, Ovarian neoplasm, Tricuspid stenos... |
ORPHA:100079 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperammonemia, Hypovolemia, Elevated circulating creatine kinase concentration, Tac... |
ORPHA:99826 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Hypotension, G... |
ORPHA:98850 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Hyperlipidemia, Chronic kidney disease, Abnormal renal medulla morphology, L... |
ORPHA:439232 |
Dengue Fever |
|
Cerebral hemorrhage, Hypoproteinemia, Hypotension, Gastrointestinal hemorrhage, Epistaxis |
ORPHA:99828 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia |
ORPHA:96181 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Necrotizing Enterocolitis |
|
Small for gestational age, Hypotension, Shock, Hyponatremia, Bradycardia |
ORPHA:391673 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Palpitations, Bidirectional ventricular ectopy, Syncope, Prolonged QTc interval, Pro... |
OMIM:170390 |
Congenital Enterovirus Infection |
|
Hyperammonemia, Hepatic failure, Myocarditis, Hypotension, Hepatitis, Hypoalbuminemia, Cardiomyop... |
ORPHA:292 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Renal cortical hyperechogenicity, Fetal megacystis, Pyeloneph... |
OMIM:619351 |
Legionnaires Disease |
|
Arrhythmia, Myocarditis, Hypotension, Hepatitis, Hyponatremia, Pericarditis, Jaundice |
ORPHA:549 |
Vipoma |
|
Elevated calcitonin, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid glan... |
ORPHA:97282 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Failure to thrive, Decreased serum testosterone concentration, Decreased circulating androgen con... |
ORPHA:90796 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Pollakisuria |
ORPHA:95626 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Infant Botulism |
|
Hypotension, Cardiac arrest, Hypertension, Hyponatremia |
ORPHA:178478 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration |
ORPHA:79155 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormal resp... |
ORPHA:95699 |
Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hematuria, Tetralogy of Fallot, ... |
OMIM:610205 |
Meningococcal Meningitis |
|
Shock, Elevated circulating C-reactive protein concentration, Hypotension |
ORPHA:33475 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatic failure, Hemothorax, Myocarditis, Jaundice, ... |
ORPHA:99827 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Tachycardia, Myocarditis, Hypot... |
ORPHA:36234 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Renal insufficiency |
OMIM:615986 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Jaundice, Hyperkalemia |
OMIM:608885 |
Oculocerebrorenal Syndrome Of Lowe |
|
Nephrolithiasis, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoaciduria, Hypoammonemia,... |
ORPHA:534 |
Alport Syndrome 3, Autosomal Dominant |
|
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Inhalational Anthrax |
|
Internal hemorrhage, Abnormal sweat gland morphology, Hypotension |
ORPHA:247257 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
Beta-Ketothiolase Deficiency |
|
Hyperammonemia, Hypotension, Hyperuricemia, Hypertension, Weight loss |
ORPHA:134 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Hypotension |
OMIM:618480 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Familial Pseudohyperkalemia |
|
Hypertension, Hyperkalemia |
ORPHA:90044 |
Cushing Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... |
ORPHA:96253 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Hyperammonemia, Hypotension, Elevated hepatic transaminase, Dilated cardiomyopath... |
ORPHA:20 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia, Renal agenesis, Hypospadias, Multicystic kidney dysplasia, Renal Fanconi syndrome, El... |
ORPHA:93111 |
Alexander Disease |
|
Failure to thrive, Precocious puberty, Sudden cardiac death, Hypotension, Hypothyroidism, Diabete... |
ORPHA:58 |
Mastocytosis |
|
Telangiectasia of the skin, Arrhythmia, Hypotension, Hypercalcemia, Gastrointestinal hemorrhage |
ORPHA:98292 |
Diffuse Cutaneous Mastocytosis |
|
Elevated total serum tryptase, Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Hype... |
OMIM:211900 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral regurgitation, Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Hy... |
OMIM:173900 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Arrhythmia, Hypotension, Hyperphosphatemia, Congestive heart failure |
ORPHA:428 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Premature pubarche |
OMIM:201810 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... |
ORPHA:93110 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Neuroendoc... |
ORPHA:913 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrolithiasis, Polydipsia, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Shortened QT inter... |
ORPHA:99880 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95513 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... |
ORPHA:99147 |
Parathyroid Carcinoma |
|
Nephrolithiasis, Polydipsia, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Shortened QT inter... |
ORPHA:143 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Hyp... |
ORPHA:93108 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension, Hepatic failure |
ORPHA:43116 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Polyuria, Lower limb muscle weakness, Hypertriglyceridemia, Hypercholest... |
OMIM:606721 |
Toxic Epidermal Necrolysis |
|
Dysuria, Polydipsia, Acute hepatic failure, Sudden cardiac death, Abnormality of the urethra, Ele... |
ORPHA:537 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Myocardial infarcti... |
ORPHA:99889 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:95494 |
Pediatric-Onset Graves Disease |
|
Polydipsia, Sinus tachycardia, Palpitations, Elevated hepatic transaminase, Polyphagia, Hypertens... |
ORPHA:525731 |
Zttk Syndrome |
|
Atrial septal defect, Flexion contracture, Unilateral renal agenesis, Polyuria, Ventricular septa... |
OMIM:617140 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Hypotension, Syncope, Elevated total serum tryptase, Weight loss |
ORPHA:98849 |
Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
Brain-Lung-Thyroid Syndrome |
|
Abnormal cardiac septum morphology, Atrial septal defect, Hypospadias, Abnormal eating behavior, ... |
ORPHA:209905 |
Scrub Typhus |
|
Hypotension, Myocarditis |
ORPHA:83317 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypothyroidism, Hypertension, Hypotension |
ORPHA:93256 |
Acute Liver Failure |
|
Adrenal insufficiency, Hyperammonemia, Intracranial hemorrhage, Hypotension, Elevated hepatic tra... |
ORPHA:90062 |
Hellp Syndrome |
|
Cerebral hemorrhage, Hypotension, Increased circulating lactate dehydrogenase concentration, Elev... |
ORPHA:244242 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Failure to thrive, Arrhythmia, Hypotension |
ORPHA:2135 |
Wolfram Syndrome |
|
Dysuria, Polydipsia, Abnormality of the urinary system, Recurrent urinary tract infections, Nephr... |
ORPHA:3463 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemia, Sudden cardiac death, Hypocalcemic tetany, Dilated cardiomyopathy, ... |
ORPHA:73224 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Hematochezia |
OMIM:174900 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure |
OMIM:261740 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Erdheim-Chester Disease |
|
Dysuria, Polydipsia, Abnormal pericardium morphology, Abnormal aortic valve morphology, Renal ins... |
ORPHA:35687 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Budd-Chiari syndrome, Increased blood urea nitrogen, Hemoglobinuria, Glyc... |
ORPHA:447 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hypophosphatemic rickets, Abnormality of renal excretion, Renal hypophos... |
ORPHA:289176 |
Poliomyelitis |
|
Hypertension, Hypotension, Hypovolemic shock |
ORPHA:2912 |
Leptospirosis |
|
Pulmonary hemorrhage, Hyperproteinemia, Arrhythmia, Retinal hemorrhage, Hypotension, Hepatitis, E... |
ORPHA:509 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Vascular Ehlers-Danlos Syndrome |
|
Bladder diverticulum, Telangiectasia of the skin, Hypokalemia, Cystocele, Hypospadias, Aplasia/Hy... |
ORPHA:286 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Reduced circulating transferrin concentration, Secondary hyperaldosteronism,... |
ORPHA:90363 |
Hydrolethalus Syndrome 1 |
|
Stillbirth, Adrenal gland dysgenesis |
OMIM:236680 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Hypoplasia of penis |
ORPHA:3157 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis |
OMIM:273395 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Abnormal left ventricular function, Hyperlipidemia, Increased LDL cholesterol co... |
ORPHA:391665 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Hyperlipidemia, Elevated hepatic transaminase, Polyphagia, Hyponatremia, Enuresis |
ORPHA:293987 |
African Trypanosomiasis |
|
Abnormality of the endocrine system, Abnormal prolactin level, Abnormality of renin-angiotensin s... |
ORPHA:3385 |
Doors Syndrome |
|
Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
Plague |
|
Tachycardia, Arrhythmia, Hematemesis, Hypotension |
ORPHA:707 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |