Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Metabolic alkalosis |
OMIM:618126 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudo... |
OMIM:264350 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Increased circulating 18-hydroxycorti... |
OMIM:610600 |
Upington Disease |
|
Premature epimetaphyseal fusion, Flat capital femoral epiphysis, Arthralgia of the hip, Broad fem... |
ORPHA:3408 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hyponatremia, Hyperkalemia, Ren... |
OMIM:614736 |
Pseudohypoaldosteronism, Type Iib |
|
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... |
ORPHA:556037 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Metabolic alkalosis, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulat... |
ORPHA:404 |
Liddle Syndrome |
|
Hypokalemia, Constipation, Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hyper... |
ORPHA:526 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Metabolic alkalosis, Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxi... |
ORPHA:251274 |
Liddle Syndrome 1 |
|
Decreased circulating aldosterone level, Hypokalemia, Metabolic alkalosis, Hypokalemic alkalosis,... |
OMIM:177200 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... |
OMIM:613090 |
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, Increased circulating renin level, Hy... |
OMIM:203400 |
Upington Disease |
|
Flattened femoral head, Broad femoral neck, Arthralgia of the hip |
OMIM:191520 |
Pseudohypoaldosteronism, Type Iic |
|
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... |
ORPHA:556030 |
Liddle Syndrome 2 |
|
Decreased circulating aldosterone level, Hypokalemia, Metabolic alkalosis, Decreased circulating ... |
OMIM:618114 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Metabolic alkalosis, Increased circu... |
ORPHA:231625 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, ... |
OMIM:602522 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldoster... |
OMIM:214700 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypokalemia, Metabolic alkalosis, Left ventricular hypertrophy, Ventricular sept... |
OMIM:615474 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Metabolic alkalosis, Increased urinary potassium, Palpitations, Adrenal hyperplasia,... |
ORPHA:231580 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Metabolic alkalosis, Nausea, Decreased circulating renin level, Epistaxis, Hypertens... |
ORPHA:231632 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Hypokalemic alkalosis, Vomiting, Increased circula... |
OMIM:241150 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... |
OMIM:300971 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hypokalemia, Polyuria, Alkalosis, Hydronephrosis, Central diabetes insipidus |
OMIM:304900 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Hypokalemia, Metabolic alkalosis, Intracranial hemorrhage, Ventricular septal de... |
ORPHA:369929 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
OMIM:300200 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Nausea, Hy... |
ORPHA:403 |
Colchicine Poisoning |
|
Abnormality of acid-base homeostasis, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia... |
ORPHA:31824 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hy... |
OMIM:613677 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Hypokalemia, Left ventricular hypertrophy, Abnormality o... |
ORPHA:320 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Hypokalemia, Metabolic alkalosis, Decreased circulating ... |
OMIM:218030 |
Hyperaldosteronism, Familial, Type I |
|
Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula... |
OMIM:103900 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Metabolic acidosis, Proximal rena... |
ORPHA:427 |
Coxopodopatellar Syndrome |
|
Abnormal epiphysis morphology, Aplasia/Hypoplasia of the patella, Hip dysplasia, Abnormal pelvic ... |
ORPHA:1509 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... |
OMIM:607364 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impair... |
ORPHA:89938 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Abnormal urinary electrolyte concentration, Increased circulating re... |
ORPHA:199343 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Hypokalemia, Metabolic acidosis, Proximal renal tubular acidosis, Impaired renal tubular reabsorp... |
OMIM:604278 |
Central Diabetes Insipidus |
|
Failure to thrive, Nocturia, Hyponatremia, Weight loss, Diabetes insipidus |
ORPHA:178029 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Adrenal hypoplasia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Prot... |
OMIM:613845 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal hip bone morphology |
ORPHA:1891 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Renal salt wasting |
OMIM:613743 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... |
OMIM:601678 |
Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... |
ORPHA:101016 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Metabolic acidosis, Vomiting, Hypercalciuria, Distal renal tubular acidosis, Nephroc... |
OMIM:602722 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism, Hyperkalemia, Hyperchloremic acidosis |
OMIM:145260 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Coxa valga, Genu valgum, Hip dysplasia, Acetabular dysplasia |
OMIM:613618 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Abnormal cardiac septum morphology, Hypertension |
ORPHA:3188 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin level, Failure... |
ORPHA:171876 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Renal potassium wasting, Increased circulat... |
OMIM:612780 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy... |
OMIM:601198 |
Glucocorticoid Resistance, Generalized |
|
Hypertension, Metabolic alkalosis |
OMIM:615962 |
Hereditary Coproporphyria |
|
Dark urine, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Nephro... |
ORPHA:79273 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Ketonuria, Hyperammonemia, Metabolic acidosis, Increased serum lactate, Ketoacidosis, Respiratory... |
OMIM:615751 |
Juvenile Nephropathic Cystinosis |
|
Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubulopathy, Sta... |
ORPHA:411634 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Hypokalemic alkalosis |
OMIM:202110 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hyperchloremic metabolic acidosis, Hypokalemia, Metabolic acidosis, Hepatosplenomegaly, Distal re... |
OMIM:611590 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Dilated cardiomyop... |
OMIM:604765 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hyponatremia, Adrenocorticotropin defic... |
ORPHA:199296 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarction, Hypercholester... |
OMIM:610947 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Hyperthyroidism, Palpitations, Tachycardia, Goiter |
OMIM:188580 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Hyponatremia |
OMIM:618426 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Shallow acetabular fossae, Broa... |
OMIM:142669 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Acidosis, Nephropathy, Renal insufficiency, Proteinuria, Hypertension, Micros... |
OMIM:137950 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Tachycardia, Goiter |
OMIM:613239 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Multiple renal cysts, Situs inversus total... |
OMIM:613095 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Failure to thrive, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia,... |
ORPHA:35710 |
Distal Arthrogryposis Type 1 |
|
Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlapping fingers, Ulnar... |
ORPHA:1146 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Failur... |
OMIM:241200 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Projectile vomiting, Hypochloremic metabolic alkalosis |
OMIM:179010 |
Acute Adrenal Insufficiency |
|
Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, Increased ... |
ORPHA:95409 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Precocious puberty, Decreased response to growth hormone ... |
ORPHA:91354 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... |
ORPHA:189427 |
Nephrogenic Diabetes Insipidus |
|
Nephrogenic diabetes insipidus, Constipation, Hypovolemia, Hydroureter, Hyposthenuria, Hypernatre... |
ORPHA:223 |
Microvillus Inclusion Disease |
|
Abnormal renal physiology, Metabolic acidosis, Hypovolemia, Diarrhea, Nephrocalcinosis |
ORPHA:2290 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... |
ORPHA:564178 |
Pituitary Adenoma 4, Acth-Secreting |
|
Nephrolithiasis, Pituitary adenoma, Hypokalemia, Increased circulating ACTH level, Alkalosis, Hyp... |
OMIM:219090 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Acidosis, Hypophosphatemia, Aminoaciduria, Hypokalemia, Glycosuria, Pr... |
OMIM:134600 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Cholera |
|
Abnormality of renal excretion, Acidosis, Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycard... |
ORPHA:173 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Precocious puberty, Hypokalemia, Decreased circulating cortis... |
ORPHA:90795 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... |
ORPHA:73224 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Constipation, Hypokalemic alkalosis, Polyuria, Hypocalciuria, Noctur... |
OMIM:263800 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Tachycardia, Hypotension, Mixe... |
OMIM:145600 |
Cystinosis |
|
Renal tubular dysfunction, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Aminoac... |
ORPHA:213 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Death in early adulthood, Death ... |
ORPHA:682 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis |
OMIM:267200 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95513 |
Mercury Poisoning |
|
Hypokalemia, Episodic vomiting, Tachycardia, Hypotension, Nausea, Acute kidney injury, Hypertension |
ORPHA:330021 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Hypertension, S... |
OMIM:603278 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... |
OMIM:161900 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Miscarriage, Decreased circulating cortisol level, Abnormal... |
ORPHA:90794 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... |
ORPHA:289548 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... |
ORPHA:90793 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... |
ORPHA:168558 |
Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... |
ORPHA:85138 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Metabolic alkalosis, In... |
ORPHA:786 |
Gitelman Syndrome |
|
Graves disease, Constipation, Metabolic alkalosis, Diarrhea, Type I diabetes mellitus, Proteinuri... |
ORPHA:358 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Abnormality of tibia morphology, Bowing of the long bones, Abnor... |
ORPHA:1802 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Chronic kidney disease, Decreased body weight, Hyperbilirubine... |
ORPHA:1667 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased erythrocyte protoporphyrin concentration, Increased urinary porphobilinogen, Purple uri... |
ORPHA:100924 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyponatremia |
ORPHA:83601 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Nephrogenic diabetes insipidus, Polyuria, Hypernatremia, Megacystis |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Polyuria, Hypernatremia, Megacystis, Diabetes insipidus |
OMIM:304800 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Myocardial infarction, Hypertension, Nephrocalcinosis, Congestive heart... |
OMIM:614473 |
Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Constipation, Abnormal circulating lipid concentration, Arrhythmia, Re... |
ORPHA:225 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Acidosis, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized amino... |
OMIM:227810 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Glycosuria, Hematuria, Proteinuria, Weight loss, Failure to th... |
OMIM:219800 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Constipation, Splenomegaly, Tachycardia, Increased urinary porphobilinogen, Elevate... |
OMIM:121300 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hypoargininemia, Vomiting, ... |
OMIM:237300 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Hyperte... |
OMIM:202010 |
Citrullinemia Type I |
|
Gastroesophageal reflux, Hyperammonemia, Vomiting, Respiratory alkalosis, Elevated plasma citrulline |
ORPHA:247525 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... |
ORPHA:199299 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... |
OMIM:603965 |
Trimethylaminuria |
|
Trimethylaminuria, Hypertension, Tachycardia, Splenomegaly |
OMIM:602079 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... |
OMIM:615238 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria, Stage ... |
OMIM:601894 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Hyperchloremic metabolic acidosis, Hypokalemia, Aminoaciduria, Hyperuricosuria, ... |
ORPHA:47159 |
Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Scorpion Envenomation |
|
Diarrhea, Glycosuria, Vomiting, Myocarditis, Bundle branch block, Tachycardia, Arrhythmia, Increa... |
ORPHA:466677 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh... |
OMIM:603233 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... |
OMIM:267700 |
Lysosomal Acid Lipase Deficiency |
|
Acidosis, Steatorrhea, Adrenal calcification, Hypovolemia, Hepatosplenomegaly, Diarrhea, Abnormal... |
ORPHA:275761 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... |
ORPHA:293978 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... |
ORPHA:99845 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Xerostomia, Diarrhea, Vomiting, Hematochezia |
OMIM:175500 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... |
OMIM:613237 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Acute kidney injury, Renal ins... |
ORPHA:54370 |
Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Hypergonadotropic hypogonadism, Hypospadias, Recurr... |
OMIM:617053 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Nail-Patella-Like Renal Disease |
|
Hypertension, Microscopic hematuria, Renal insufficiency, Proteinuria |
ORPHA:2613 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypothyroidism, Hypertriglyceridemia, Hy... |
OMIM:618183 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension |
OMIM:607832 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Metabolic acidosis, Increased serum lactate, Left ventricular h... |
OMIM:617713 |
Porphyria Variegata |
|
Chronic kidney disease, Inappropriate antidiuretic hormone secretion, Increased urinary porphobil... |
ORPHA:79473 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
Snakebite Envenomation |
|
Hypopituitarism, Acute kidney injury, Hyponatremia |
ORPHA:449285 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Hyperlipidemia, Type II diabetes mellitus, Cerebral hemorrhage, In... |
ORPHA:31825 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Nelson Syndrome |
|
Type II diabetes mellitus, Adrenocorticotropic hormone excess, Hypokalemia, Increased circulating... |
ORPHA:199244 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Subarachnoid hemorrhage, Hematuria, Vomiting, Myocardial infarction,... |
ORPHA:90068 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Hyperchloremic metabolic acidosis, Acidosis, Constipation, Aminoacidur... |
ORPHA:411629 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Type II diabetes mellitus |
ORPHA:71529 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... |
OMIM:616963 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, Proteinuria, Hypertension, Stage 5 chronic kidney disease |
OMIM:613944 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration, Metabolic... |
OMIM:616239 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
Acute Intermittent Porphyria |
|
Dark urine, Dysuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic aci... |
ORPHA:79276 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Gaisböck Syndrome |
|
Angina pectoris, Hypovolemia, Hyperproteinemia, Elevated diastolic blood pressure, Increased circ... |
ORPHA:90041 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated lactate:pyruvate ratio, Steatorrhea, Gl... |
ORPHA:699 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Hypertension, Transient ischemic attack, Lacunar stroke |
OMIM:616779 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Acute kidney injury, Myoglobinuria, Hyperkalemia |
ORPHA:57 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Hypertension, Lactic acidosis, Pulmonary arterial hypertension |
OMIM:605711 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hypovolemia, Nausea, Increased circulating gonadotropin level... |
ORPHA:64739 |
Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension, Hematuria, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616818 |
Thyrotoxic Periodic Paralysis |
|
Hypomagnesemia, Graves disease, Constipation, Hyperthyroidism, Episodic hypokalemia, Transient hy... |
ORPHA:79102 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... |
ORPHA:94093 |
Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Bloody diarrhea, Hypokalemia, Hemoglobinuria, Peritonitis, Diarrhea, Vomiting, Myo... |
ORPHA:90038 |
Legionnaires Disease |
|
Pancreatitis, Hematuria, Renal insufficiency, Proteinuria, Hyponatremia |
ORPHA:549 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal hypoplasia, Renal insufficiency, Hypogonadism |
OMIM:618681 |
Citrullinemia, Classic |
|
Oroticaciduria, Hepatomegaly, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia, Hyp... |
OMIM:215700 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Hypertension, Lactic acidosis, Arrhythmia |
OMIM:617021 |
Alg8-Cdg |
|
Failure to thrive, Hyponatremia, Small for gestational age |
ORPHA:79325 |
Rabson-Mendenhall Syndrome |
|
Increased circulating androgen concentration, Increased serum testosterone level, Precocious pube... |
ORPHA:769 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Hyperchloremic metabolic acidosis, Hypokalemia, Constipation, Aminoaciduria, Dec... |
ORPHA:18 |
Fanconi Renotubular Syndrome 5 |
|
Hyperchloremic metabolic acidosis, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Gly... |
OMIM:618913 |
Attrv30M Amyloidosis |
|
Constipation, Abnormal renal physiology, Diarrhea, Nephropathy, Arrhythmia, Cardiomegaly, Cardiom... |
ORPHA:85447 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Hematuria, Proteinuria, Nephr... |
ORPHA:534 |
Helix Syndrome |
|
Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Xerostomia, Renal insufficiency, Hypermagn... |
OMIM:617671 |
Preeclampsia |
|
Chronic kidney disease, Elevated systolic blood pressure, Elevated circulating creatinine concent... |
ORPHA:275555 |
Hepatocellular Carcinoma |
|
Type II diabetes mellitus, Hepatomegaly, Budd-Chiari syndrome, Metabolic alkalosis, Hyperbilirubi... |
ORPHA:88673 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Cerebral hemorrhage, Renal insufficiency, Proteinuria, Hypoalbuminemia, Hyper... |
ORPHA:84090 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Hypernatremia, Hydronephrosis, Pituitary h... |
OMIM:615926 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Proteinuria, Hypertension |
OMIM:105200 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Central adrenal insufficiency, Vomiting, Increased circulating prola... |
ORPHA:91347 |
Leprechaunism |
|
Failure to thrive, Hyperinsulinemia, Hypokalemia, Decreased body weight, Increased circulating re... |
ORPHA:508 |
Marburg Hemorrhagic Fever |
|
Diarrhea, Vomiting, Elevated circulating creatinine concentration, Pericarditis, Bloody diarrhea,... |
ORPHA:99826 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Abnormal metacarpal morphology, Abnormal pelvic gi... |
ORPHA:2370 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... |
OMIM:603553 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Neonatal death, Small for gestational age |
OMIM:300076 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... |
ORPHA:3337 |
Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, L... |
ORPHA:439232 |
Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Diarrhea, Arrhythmia, Elevated circulating ... |
OMIM:255120 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Diarrhea, Vomiting, Glutaric aciduria, Hypertension, Goiter |
OMIM:231690 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal ... |
ORPHA:280356 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Hypocalcemia, Gastritis, Metabolic acidosis, Tachycardia, Hematuria, H... |
ORPHA:31826 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Metabolic acidosis, Increased serum lactate... |
OMIM:619051 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... |
ORPHA:563 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus |
ORPHA:79084 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... |
OMIM:102200 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age |
ORPHA:391673 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Dysphagia, Achalasia, Ischemic stroke, Hypertension |
OMIM:615750 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Vomiting, Low-output congestive heart failure, Abnormal B... |
ORPHA:66529 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Hyperechogenic kidneys, Failure to thrive in infancy, Tubulointer... |
OMIM:617595 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Renal insufficiency, Hyperuricemia, Hypertension, Cardiomyopathy |
ORPHA:3222 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, Proteinuria, Hypertension, Stage 5 chronic kidney disease |
OMIM:161950 |
Infant Botulism |
|
Xerostomia, Hyponatremia |
ORPHA:178478 |
Whipple Disease |
|
Hypothyroidism, Cachexia, Hyponatremia |
ORPHA:3452 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... |
ORPHA:85451 |
Argininosuccinic Aciduria |
|
Oroticaciduria, Hepatomegaly, Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoa... |
OMIM:207900 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Atrial septal defect, Hepatomegaly, Elevated circulating C-reactive protein concentr... |
OMIM:619573 |
Vipoma |
|
Elevated calcitonin, Pituitary adenoma, Abnormality of the thyroid gland, Hepatomegaly, Elevated ... |
ORPHA:97282 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Vomiting, Cerebral isch... |
ORPHA:90065 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Renal ins... |
ORPHA:567544 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Congenital hypothyroidism, Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... |
ORPHA:2041 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... |
ORPHA:423 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
Acute Liver Failure |
|
Adrenal insufficiency, Acidosis, Hyperammonemia, Intracranial hemorrhage, Diarrhea, Vomiting, Hyp... |
ORPHA:90062 |
Fabry Disease |
|
Angina pectoris, Left ventricular hypertrophy, Diarrhea, Arrhythmia, Vomiting, Myocardial infarct... |
OMIM:301500 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Oroticaciduria, Episodic ammonia intoxication, Hyperammonemia, Low plasma citrulline, Hyperglutam... |
OMIM:311250 |
Familial Dysautonomia |
|
Abnormality of the kidney, Hypohidrosis, Renal insufficiency, Hyponatremia, Glomerulopathy, Hyper... |
ORPHA:1764 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Diarrhea, Vomiting |
OMIM:616069 |
Multiple Endocrine Neoplasia, Type Iia |
|
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Elevated ... |
OMIM:171400 |
Shigellosis |
|
Urethritis, Abnormal blood ion concentration, Acute kidney injury, Hyponatremia, Failure to thriv... |
ORPHA:810 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Elevated circulati... |
OMIM:616733 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension |
OMIM:605115 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Pheochromocytoma, Tachycardia, Episodic hyp... |
OMIM:171420 |
Juvenile Polyposis Syndrome |
|
Diarrhea, Hypokalemia, Hypoalbuminemia, Hematochezia |
OMIM:174900 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum lactate, Increased serum pyruvate, Dilated cardiomyopathy, Hypertension, Hypertro... |
ORPHA:1349 |
Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... |
OMIM:610797 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hematuria, Tetralogy of Fallot, ... |
OMIM:610205 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Hyperthyroidism, Palpitations, Syncope, Bidirectional ventricular ectopy, Prolonged ... |
OMIM:170390 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertension |
OMIM:608600 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Increased serum lactate, Hyperprolinemia, Hyperalaninemia, Pulmonary arterial hyper... |
OMIM:619064 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Hyperaldosteronism, Renal hypoplasia |
ORPHA:37553 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Nephrotic syndrome, Nephropathy, Type I diabetes mellitus, Prot... |
ORPHA:1192 |
Alg12-Cdg |
|
Failure to thrive, Micropenis, Hypospadias, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, D... |
ORPHA:79324 |
Ochoa Syndrome |
|
Constipation, Renal insufficiency, Hydronephrosis, Urethral obstruction, Hypertension, Vesicouret... |
ORPHA:2704 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Pancreatitis, Nephrotic range proteinuria, Oliguria, Acute kidney injury, Hyponatre... |
ORPHA:544482 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Hyperprolinemia, Neonatal death, Hyperala... |
OMIM:619003 |
Senior-Loken Syndrome |
|
Hypertension, Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease |
ORPHA:3156 |
Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Abnormal A-type atrial natriuretic pe... |
ORPHA:57777 |
Osteootohepatoenteric Syndrome |
|
Hypokalemia, Episodic vomiting, Proteinuria, Grade II vesicoureteral reflux, Secretory diarrhea, ... |
OMIM:619377 |
Familial Pseudohyperkalemia |
|
Hypertension, Hyperkalemia |
ORPHA:90044 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hypertension |
OMIM:613877 |
Hypochondroplasia |
|
Abnormality of femur morphology, Short toe, Brachydactyly, Genu varum, Bowing of the long bones, ... |
ORPHA:429 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Potocki-Shaffer Syndrome |
|
Hypothyroidism, Hypertension, Delayed puberty, Micropenis |
ORPHA:52022 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Vasculitis, Cerebral ischemia, Myo... |
ORPHA:3287 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Vomiting, Dilat... |
OMIM:600649 |
Grange Syndrome |
|
Ventricular septal defect, Hypertension, Aortic regurgitation |
ORPHA:79094 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Brachydactyly, Cuboidal metacarpal, Abnormally shaped carpal bones, Tarsal synostosis, Abnormal p... |
ORPHA:968 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Ketonuria, Hypovolemia, Glycosuria, Moderate albuminuria, Neonatal ins... |
ORPHA:99885 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Timothy Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent foramen oval... |
OMIM:601005 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Atrial septal defect |
OMIM:613355 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormality of femur morphology, Hip dislocation |
ORPHA:1508 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Renal salt wasting |
OMIM:201910 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral regurgitation, Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Hy... |
OMIM:173900 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia |
OMIM:608885 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Acidosis, Hepatomegaly, Hyperammonemia, Metabolic acidosis, Increased serum lactate, D... |
ORPHA:134 |
Familial Cervical Artery Dissection |
|
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebral ischemia, Hypertension, Transien... |
ORPHA:36382 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Lactic acidosis, Elevated circulating creatine kinase conce... |
OMIM:618838 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone |
ORPHA:1506 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hyperlysinemia, Lacticaciduria, Hyperammonemia, Increased serum pyruvate, Hype... |
ORPHA:3008 |
Glycogen Storage Disease Ic |
|
Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Metabolic acidosis, Hematuria... |
OMIM:232240 |
Holoprosencephaly |
|
Hypoplasia of penis, Panhypopituitarism, Abnormality of the urinary system, Anterior hypopituitar... |
ORPHA:2162 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kid... |
OMIM:232200 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Increased serum lactate, Hyperprolinemia, Hyperalaninemia, Perimembranous ventricular septal defe... |
OMIM:619170 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... |
ORPHA:293987 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... |
OMIM:115197 |
C3 Glomerulopathy |
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Chronic kidney disease, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, ... |
ORPHA:329918 |
Hemochromatosis, Type 1 |
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Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Hyp... |
OMIM:235200 |
Familial Atrial Myxoma |
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Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... |
ORPHA:615 |
Jeune Syndrome |
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Cone-shaped epiphysis, Brachydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Sho... |
ORPHA:474 |
Moyamoya Disease With Early-Onset Achalasia |
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Hypertension, Raynaud phenomenon |
ORPHA:401945 |
Hemorrhagic Fever-Renal Syndrome |
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Melena, Decreased glomerular filtration rate, Diarrhea, Hematuria, Vomiting, Hyperkalemia, Elevat... |
ORPHA:340 |
Leigh Syndrome With Nephrotic Syndrome |
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Nephrotic syndrome, Renal tubular acidosis, Increased serum lactate, Episodic vomiting, Tubuloint... |
ORPHA:255249 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Hepatomegaly, Decreased glomerular filtration rate, Diarrhea, Vomiting, Elevated circulating crea... |
ORPHA:85450 |
Primary Hyperoxaluria Type 3 |
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Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... |
ORPHA:93600 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Myocardial infarction, Hypertension, Hypercholesterolemia, Coronary artery stenosis |
OMIM:615812 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Abnormal pelvic girdle bone morphology, Camptodactyly of finger, Brachydactyly, Ulnar deviation o... |
ORPHA:2928 |
Zollinger-Ellison Syndrome |
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Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... |
ORPHA:913 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Oroticaciduria, Hepatomegaly, Hyperornithinemia, Hyperammonemia, Episodic vomiting, Abnormal circ... |
ORPHA:415 |
Complete Atrioventricular Septal Defect |
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Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Rhabdoid Tumor |
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Hypertension, Hypercalcemia, Hematuria, Internal hemorrhage |
ORPHA:69077 |
Pseudo-Torch Syndrome 3 |
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Increased circulating ferritin concentration, Cerebral hemorrhage, Acute kidney injury, Proteinur... |
OMIM:618886 |
Frasier Syndrome |
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Nephrotic syndrome, Streak ovary, Hypergonadotropic hypogonadism, Focal segmental glomerulosclero... |
ORPHA:347 |
Lipodystrophy, Familial Partial, Type 3 |
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Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
Heme Oxygenase 1 Deficiency |
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Increased circulating ferritin concentration, Hepatomegaly, Nephritis, Elevated circulating C-rea... |
OMIM:614034 |
Sneddon Syndrome |
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Hypertension, Intracranial hemorrhage, Nephropathy |
ORPHA:820 |
Carnitine Deficiency, Systemic Primary |
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Hepatomegaly, Hyperammonemia, Vomiting, Endocardial fibroelastosis, Decreased plasma carnitine, H... |
OMIM:212140 |
Acute Bilirubin Encephalopathy |
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Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
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Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Denys-Drash Syndrome |
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Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:220 |
Atrioventricular Septal Defect 3 |
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Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... |
OMIM:600309 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... |
ORPHA:90363 |
Adenine Phosphoribosyltransferase Deficiency |
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Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Oliguria, Urinary hesita... |
ORPHA:976 |
Glycogen Storage Disease Ib |
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Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly... |
OMIM:232220 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
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Cerebral hemorrhage, Intracranial hemorrhage, Stress urinary incontinence, Cerebral ischemia, Lac... |
ORPHA:136 |
Aortic Arch Interruption |
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Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
Multiple Endocrine Neoplasia, Type I |
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Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
Aorta Coarctation |
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Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... |
ORPHA:1457 |
Periodic Fever, Menstrual Cycle-Dependent |
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Increased circulating cortisol level |
OMIM:614674 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Hypophosphatemic rickets, Congestive heart failure, Myocardial infarction, Dilated cardiomyopathy... |
OMIM:208000 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Erythrocytosis, Familial, 1 |
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Myocardial infarction, Hypertension, Cerebral hemorrhage, Splenomegaly |
OMIM:133100 |
Pseudoxanthoma Elasticum |
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Angina pectoris, Mitral stenosis, Intermittent claudication, Restrictive cardiomyopathy, Weak pul... |
OMIM:264800 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
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Atrial septal defect, Unilateral renal agenesis, Ventricular septal defect, Hypertension, Pulmona... |
OMIM:608406 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... |
ORPHA:276621 |
Primary Lipodystrophy |
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Angina pectoris, Hyperlipidemia, Type II diabetes mellitus, Splenomegaly, Hypertension, Cardiomyo... |
ORPHA:90970 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
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Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati... |
OMIM:145981 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
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Adrenal insufficiency, Hypernatriuria, Decreased circulating cortisol level |
OMIM:103230 |
Atrial Fibrillation, Familial, 14 |
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Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Ganglioneuroma |
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Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Neoplasm of the adrenal gland, Hy... |
ORPHA:251992 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Infantile Sialic Acid Storage Disease |
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Nephrotic syndrome, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly, Cong... |
OMIM:269920 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
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Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Hypergonadotropic hyp... |
ORPHA:280679 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
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Hypertension, Pulmonary arterial hypertension, Gastroesophageal reflux, Right ventricular hypertr... |
OMIM:613623 |
Stiff Skin Syndrome |
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Nephrolithiasis, Hypertension, Type II diabetes mellitus, Abnormal circulating lipid concentration |
ORPHA:2833 |
Japanese Encephalitis |
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Inappropriate antidiuretic hormone secretion, Hyponatremia |
ORPHA:79139 |
Thoracomelic Dysplasia |
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Abnormality of fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Abnormal m... |
ORPHA:1803 |
Morgagni-Stewart-Morel Syndrome |
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Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... |
ORPHA:77296 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
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Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Primary Pigmented Nodular Adrenocortical Disease |
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Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... |
ORPHA:189439 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Atrial septal defect, Micropenis, Tachycardia, Ventricular septal defect, Hypertension |
OMIM:613870 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Hypertension |
ORPHA:363400 |
Polyarteritis Nodosa |
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Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Hypertension, Pericard... |
ORPHA:767 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
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Hypertension, Type I diabetes mellitus, Anterior hypopituitarism |
ORPHA:181 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
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Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Cryoglobulinemia, Familial Mixed |
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Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Pheochromocytoma |
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Congestive heart failure, Positive regitine blocking test, Cerebral hemorrhage, Pheochromocytoma,... |
OMIM:171300 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... |
OMIM:615830 |
Stevens-Johnson Syndrome |
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Dysuria, Sudden cardiac death, Abnormality of the urethra, Hypokalemic metabolic alkalosis, Diarr... |
ORPHA:36426 |
Autosomal Recessive Polycystic Kidney Disease |
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Reduced renal corticomedullary differentiation, Recurrent urinary tract infections, Enlarged kidn... |
ORPHA:731 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... |
OMIM:263200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Elevated circulating acylcarnitine concentration, Hepatomegaly, Metabolic acidosis, Abnormal myoc... |
ORPHA:228308 |
Chédiak-Higashi Syndrome |
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Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia |
ORPHA:167 |
Pulmonary Hypertension, Primary, 1 |
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Elevated right atrial pressure, Right ventricular hypertrophy, Right ventricular failure, Hyperte... |
OMIM:178600 |
Liver Disease, Severe Congenital |
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Increased circulating ferritin concentration, Failure to thrive, Exocrine pancreatic insufficienc... |
OMIM:619991 |
Mccune-Albright Syndrome |
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Renal phosphate wasting, Increased serum testosterone level, Renal tubular dysfunction, Precociou... |
ORPHA:562 |
Danon Disease |
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Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating cr... |
OMIM:300257 |
Porphyria |
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Abnormal urinary color, Constipation, Diarrhea, Abnormal circulating porphyrin concentration, Hyp... |
ORPHA:738 |
Paragangliomas 3 |
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Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:605373 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hypercortisol... |
OMIM:219080 |
African Iron Overload |
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Increased circulating ferritin concentration, Increased circulating cortisol level, Abnormal thyr... |
ORPHA:139507 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Hepatomegaly, Gastroesophageal reflux, Hyperammonemia, Necrotizing enterocolitis, Sudden cardiac ... |
OMIM:201475 |
Porphyria, Acute Intermittent |
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Dysuria, Paralytic ileus, Constipation, Tachycardia, Elevated urinary delta-aminolevulinic acid, ... |
OMIM:176000 |
Paragangliomas 1 |
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Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:168000 |
Autoimmune Polyendocrinopathy Type 1 |