| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... |
OMIM:137950 |
| Heinz Body Anemias |
|
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Failure to thrive, Orthostat... |
OMIM:610600 |
| Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... |
OMIM:161900 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia, Failure to thrive, Hematuria, Weight loss, Nephrolithiasis, Renal i... |
ORPHA:35710 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Myocardial... |
ORPHA:54370 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... |
OMIM:601894 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Failure to thrive, Enuresis nocturna, Functional abnormality of the bladder, Nephr... |
ORPHA:223 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... |
ORPHA:556037 |
| Focal Segmental Glomerulosclerosis 2 |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... |
OMIM:603965 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Failur... |
OMIM:264350 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Myocardial infarction |
OMIM:608320 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:613944 |
| Nail-Patella-Like Renal Disease |
|
Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2613 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... |
OMIM:616818 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... |
ORPHA:556030 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Diabetes insipidus, Hypernatremia, Failure to thrive, Megacystis, Polyuria |
OMIM:304800 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Failure to thrive, Megacystis, Nephrogenic diabetes insipidus, Polyuria |
OMIM:125800 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Renal salt wasting, Hyponatremia, Respiratory insufficiency, Failure to thrive, Chronic kidney di... |
OMIM:613845 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Failure to thrive, Renal sal... |
OMIM:203400 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypertension, Myoglobinuria, Hypernatremia, Elevated circulating crea... |
ORPHA:94093 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... |
ORPHA:84090 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Failur... |
OMIM:177735 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... |
OMIM:603278 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
| Focal Segmental Glomerulosclerosis 5 |
|
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... |
OMIM:613237 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine, Elevated systolic bl... |
OMIM:300539 |
| Hereditary Coproporphyria |
|
Hyponatremia, Respiratory insufficiency, Hepatocellular carcinoma, Porphyrinuria, Tachycardia, Da... |
ORPHA:79273 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Proteinuria, Nephropathy |
ORPHA:2820 |
| Preeclampsia |
|
Hypertension, Elevated diastolic blood pressure, Small for gestational age, Elevated circulating ... |
ORPHA:275555 |
| Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
| Webb-Dattani Syndrome |
|
Hydronephrosis, Diabetes insipidus, Hypernatremia, Pituitary hypothyroidism, Vesicoureteral reflu... |
OMIM:615926 |
| Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension, Respiratory insufficiency |
ORPHA:3188 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Congenital hypothyroidism, Failure to thrive, Renal salt wasting, Pre... |
OMIM:614736 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertension, Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Hypertriglyceridemia, ... |
OMIM:610947 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:161950 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... |
OMIM:613090 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Wheezing, Hyponatremia, Hyperkalemia, Failure to thrive in infancy, Hypovolemic shock, Weight los... |
ORPHA:171876 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating ... |
ORPHA:567544 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
| Liddle Syndrome |
|
Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Renal insufficiency, Arrhythmia |
ORPHA:526 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Failu... |
ORPHA:427 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Fanconi Renotubular Syndrome 5 |
|
Hypertension, Lung adenocarcinoma, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic... |
OMIM:618913 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... |
OMIM:602522 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... |
OMIM:615703 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
| Trimethylaminuria |
|
Trimethylaminuria, Hypertension, Recurrent pneumonia, Tachycardia |
OMIM:602079 |
| Rhabdoid Tumor |
|
Hypercalcemia, Hypertension, Neoplasm of the central nervous system, Respiratory insufficiency, H... |
ORPHA:69077 |
| Snakebite Envenomation |
|
Hyponatremia, Intracranial hemorrhage, Epistaxis, Respiratory paralysis, Tachycardia, Cerebral is... |
ORPHA:449285 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertriglyceridemia, O... |
ORPHA:71529 |
| Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Conge... |
ORPHA:361 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Hypertension, Urinary hesitancy, Urinary retention, Atrial fibrillation, D... |
ORPHA:976 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia, Failure to thrive |
OMIM:143860 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Abnormal circulating lipid ... |
ORPHA:225 |
| Colchicine Poisoning |
|
Myocarditis, Hyponatremia, Hypokalemia, Hypophosphatemia, Cardiogenic shock, Hypomagnesemia, Resp... |
ORPHA:31824 |
| Denys-Drash Syndrome |
|
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
| Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
| Central Diabetes Insipidus |
|
Hyponatremia, Diabetes insipidus, Failure to thrive, Weight loss, Nocturia |
ORPHA:178029 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... |
ORPHA:411634 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Central apnea, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Central apnea, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Small for gestational ag... |
ORPHA:93101 |
| Nephronophthisis 2 |
|
Hyperkalemia, Hypertension, Pulmonary insufficiency, Chronic tubulointerstitial nephritis, Respir... |
OMIM:602088 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Hyponatremia, Hyperkalemia, Increased serum testosterone level, Decreased circulatin... |
ORPHA:90791 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... |
OMIM:300971 |
| Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Apnea, Adrenal hypoplasia |
OMIM:240200 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Failure to thrive, ... |
OMIM:300200 |
| Pyruvate Carboxylase Deficiency |
|
Hypernatremia, Abnormal pattern of respiration, Tachypnea, Lacticaciduria, Neonatal hyperbilirubi... |
ORPHA:3008 |
| C3 Glomerulopathy |
|
Hypertension, Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage... |
ORPHA:329918 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Abnormality of the urinary ... |
OMIM:103900 |
| Amyloidosis, Familial Visceral |
|
Hypertension, Nephrotic syndrome, Hematuria, Nephropathy, Proteinuria |
OMIM:105200 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, ... |
ORPHA:91354 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Respiratory distress, Hyponatremia |
OMIM:618426 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia |
OMIM:616949 |
| Lessel-Kubisch Syndrome |
|
Hypogonadism, Renal hypoplasia, Hypertension, Renal insufficiency |
OMIM:618681 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia, Hypertension, Respiratory insufficiency |
ORPHA:2111 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, Hypotensio... |
ORPHA:199296 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypertension, Nephrocalcinosis, Myocardial infarction, Congestive heart failure, Hypophosphatemic... |
OMIM:614473 |
| Frasier Syndrome |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Streak ovary, Gonadoblastom... |
ORPHA:347 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Neoplasm of the adrenal gland, Intracranial hemorrhage, Abnormal T-wave, Decreased ... |
ORPHA:231625 |
| Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Chronic pulmona... |
ORPHA:439232 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... |
ORPHA:404 |
| Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine, Increased le... |
OMIM:215600 |
| Acute Adrenal Insufficiency |
|
Androgen insufficiency, Adrenal hypoplasia, Renal salt wasting, Increased circulating renin level... |
ORPHA:95409 |
| Rowley-Rosenberg Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Recurrent pneumonia, Aminoaciduria, Atelectasis |
OMIM:268500 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Nephrocalcinosis, Increased urin... |
ORPHA:89938 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hypokalemia, Hyperaldostero... |
OMIM:613677 |
| Porphyria Variegata |
|
Hyponatremia, Hypertension, Inappropriate antidiuretic hormone secretion, Hepatocellular carcinom... |
ORPHA:79473 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Cholera |
|
Abnormality of renal excretion, Hyponatremia, Hypovolemic shock, Decreased urine output, Hypokale... |
ORPHA:173 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... |
ORPHA:403 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Respiratory insufficiency, Purple urine, Increased urinary porphobilinogen, Myelopr... |
ORPHA:100924 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
| Nephroblastoma |
|
Hypertension, Neoplasm of the lung, Weight loss, Hematuria, Neoplasm, Neoplasm of the liver, Neph... |
ORPHA:654 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Failure to thrive, Hypochloremia... |
OMIM:214700 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
| Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Respiratory insufficiency, Urinary retention, Hepatocellular carcinom... |
ORPHA:79276 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Ovarian neoplasm, Decreased circulating renin level, Hypokalemia, Epistaxis, Renal ... |
ORPHA:231632 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Hypertension, Respiratory insufficiency, Failure to thrive, Pulmonary arterial hypertension, Resp... |
OMIM:605711 |
| Cryoglobulinemia, Familial Mixed |
|
Hypertension, Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration... |
OMIM:123550 |
| Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
| Legionnaires Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Respiratory insufficiency, Hematuria, Cough, Arrhythmia,... |
ORPHA:549 |
| Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level, Hypokal... |
ORPHA:320 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Hypokalemia, A... |
ORPHA:251274 |
| Coproporphyria, Hereditary |
|
Hypertension, Respiratory paralysis, Tachycardia, Increased urinary porphobilinogen, Elevated uri... |
OMIM:121300 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroidism... |
OMIM:618183 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Hypercalcemia, Paraganglioma of head and neck, Elevated urinary epinephrine,... |
ORPHA:94080 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hypertriglyceridemia, Diabetes mellitus |
OMIM:613877 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Glo... |
OMIM:104200 |
| Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassiu... |
OMIM:607364 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine... |
OMIM:171420 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Hypertension, Pheochromocytoma, Elevated urinary epinephrine, Elevated urinary vanillylmandelic a... |
OMIM:171400 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia, Adrenal hyperplasia, Hyperactive renin-angiotensin system, Pneumonia,... |
ORPHA:90790 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612926 |
| Anemia, Sideroblastic, 1 |
|
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Respiratory insufficiency, Hypokalemia, Elevated circulating creatine... |
ORPHA:682 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Bro... |
ORPHA:293978 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... |
OMIM:174000 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Small for gestational age, Renal dysplasia, Elevated circulating creatinine concent... |
OMIM:616733 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Hematuria, Nephritis,... |
OMIM:203780 |
| Infant Botulism |
|
Hyponatremia, Hypertension, Respiratory insufficiency due to muscle weakness, Cardiac arrest, Dys... |
ORPHA:178478 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hypokalemia, Increased urin... |
ORPHA:231580 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Liddle Syndrome 3 |
|
Hypertension, Hypokalemia |
OMIM:618126 |
| Adenohypophysitis |
|
Hyponatremia, Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased... |
ORPHA:95512 |
| Liddle Syndrome 1 |
|
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level, Hypokal... |
OMIM:177200 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... |
ORPHA:90794 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Proteinuria, Renal insufficiency, Nephropathy |
OMIM:166300 |
| Addison Disease |
|
Androgen insufficiency, Adrenal hypoplasia, Type I diabetes mellitus, Renal salt wasting, Increas... |
ORPHA:85138 |
| Glutaric Aciduria Iii |
|
Hypertension, Goiter, Failure to thrive, Glutaric aciduria, Hyperthyroidism |
OMIM:231690 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Hypertension, Stage 5 chronic kidney disease |
ORPHA:3156 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level, Small f... |
OMIM:218030 |
| Melorheostosis With Osteopoikilosis |
|
Hypertension, Multiple lipomas |
ORPHA:1879 |
| Panhypophysitis |
|
Hyponatremia, Increased circulating prolactin concentration, Hashimoto thyroiditis, Abnormal size... |
ORPHA:95513 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Cardiomyopathy, Hyperuricemia, Renal insufficiency, Arrhythmia |
ORPHA:3222 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hypoparathyroidism, Failure to thrive, Orthostatic hypotension, Weig... |
ORPHA:199299 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a... |
ORPHA:289548 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a... |
ORPHA:168558 |
| Alport Syndrome |
|
IgA deposition in the glomerulus, Thin glomerular basement membrane, Tubulointerstitial fibrosis,... |
ORPHA:63 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, Hematu... |
ORPHA:730 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism |
OMIM:145260 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Increased circu... |
OMIM:615954 |
| Potocki-Shaffer Syndrome |
|
Hypertension, Exostoses, Micropenis, Hypothyroidism, Nephroblastoma, Delayed puberty |
ORPHA:52022 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... |
OMIM:256100 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy, Proteinuria |
ORPHA:1192 |
| Posterior Urethral Valve |
|
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... |
ORPHA:93110 |
| Ganglioneuroma |
|
Colorectal polyposis, Hypertension, Neoplasm of the adrenal gland, Abnormality of the adrenal gla... |
ORPHA:251992 |
| Pheochromocytoma |
|
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Hemangioma, Tachycardia, Neoplasm, Ele... |
OMIM:171300 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Goiter, Cerebral vasculitis, Hypothyroidism, Hashimoto thyroiditis |
ORPHA:83601 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney d... |
OMIM:618061 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... |
ORPHA:93108 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal circ... |
ORPHA:280356 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
| Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Small for gestational age, Apnea, Bradycardia, Hypotension |
ORPHA:391673 |
| Mirage Syndrome |
|
Hypospadias, Hyponatremia, Hyperkalemia, Adrenal insufficiency, Intracranial hemorrhage, Myelodys... |
OMIM:617053 |
| Pituitary Apoplexy |
|
Hyponatremia, Increased circulating prolactin concentration, Hypertension, Hypergonadotropic hypo... |
ORPHA:95613 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Central hypothyroidism, Hyperbilirubinemia, Hyperammonemia, Hypothyroidism, Hypoalb... |
ORPHA:1667 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Crackles, Exe... |
ORPHA:563 |
| Whipple Disease |
|
Myocarditis, Hyponatremia, Cachexia, Pericarditis, Respiratory insufficiency, Cough, Myocardial i... |
ORPHA:3452 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Hypercalcemia, Paraganglioma of head and neck, Extraadrenal pheochromoc... |
ORPHA:276621 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
| Sheehan Syndrome |
|
Hyponatremia, Central adrenal insufficiency, Abnormal size of pituitary gland, Decreased circulat... |
ORPHA:91355 |
| Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Hypertension, Hypoparathyroidism, Nephrotic syndrome, N... |
OMIM:301050 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recu... |
OMIM:613095 |
| Ochoa Syndrome |
|
Hypertension, Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoure... |
ORPHA:2704 |
| Hartsfield Syndrome |
|
Hypospadias, Diabetes insipidus, Hypernatremia, Gonadotropin deficiency, Micropenis |
OMIM:615465 |
| Mercury Poisoning |
|
Hypertension, Hypokalemia, Interstitial pneumonitis, Tachycardia, Respiratory distress, Acute kid... |
ORPHA:330021 |
| Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Hypertension, Abnormal nephron morphology, Sma... |
ORPHA:2260 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Elevated urinary epinephrine, Arachnoid hemangiomatosis, Elevated ... |
ORPHA:29072 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting, Increased circulating renin level, Hyperaldosteronism |
OMIM:619406 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614495 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... |
ORPHA:369929 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Cachexia, Failure to thrive, Weight loss, Pulmonary arterial hyperten... |
ORPHA:275761 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Hypertension, Recurrent pneumonia |
OMIM:616069 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Myocarditis, Decreased urine output, Hypertension, Pneumonia, Anuria,... |
ORPHA:544482 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia |
ORPHA:1345 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Increased serum testosterone level, Increased circulating androstenedione concentra... |
ORPHA:90795 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... |
OMIM:618620 |
| Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Neuroblastoma, Elevated urinary vanillylmandelic acid, Failure to thrive, Ganglione... |
OMIM:256700 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Hypertension, Decreased HDL cholesterol concentration, Tubulointerstitial ... |
ORPHA:85450 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal potassium wasting, Hyperaldos... |
OMIM:601678 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Macroscopic hematuria, Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulo... |
ORPHA:567546 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Hypertension, Renal tubular acidosis, Hematuria, Renal cyst, Pulmonic stenosis,... |
OMIM:610205 |
| Polyarteritis Nodosa |
|
Hypertension, Pericarditis, Weight loss, Cardiomyopathy, Raynaud phenomenon, Elevated circulating... |
ORPHA:767 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
| Familial Dysautonomia |
|
Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia, Glomerulopathy, Renal insuffici... |
ORPHA:1764 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
| Heme Oxygenase 1 Deficiency |
|
Hypertension, Hematuria, Nephritis, Epistaxis, Increased circulating ferritin concentration, Prot... |
OMIM:614034 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
| Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... |
ORPHA:340 |
| Xfe Progeroid Syndrome |
|
Hypertension, Cachexia, Proteinuria, Renal insufficiency |
OMIM:610965 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Respiratory insufficiency, Apnea, Increased circulating ferrit... |
OMIM:618886 |
| East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hyperaldosteronism, Abnorm... |
ORPHA:199343 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Portal hypertension, Hyponatremia, Hypertension, Cholangiocarcinoma, Stage 5 chronic kidney disea... |
ORPHA:731 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Elevated circulating follicle stimulating hormon... |
ORPHA:90793 |
| Glycogen Storage Disease Ic |
|
Hypertension, Focal segmental glomerulosclerosis, Spider hemangioma, Hyperlipidemia, Hepatocellul... |
OMIM:232240 |
| Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Nephropathy |
ORPHA:820 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Liddle Syndrome 2 |
|
Hypokalemia, Hypertension, Decreased circulating renin level |
OMIM:618114 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypertension, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria,... |
ORPHA:90038 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614496 |
| Coach Syndrome 2 |
|
Hyperechogenic kidneys, Apneic episodes in infancy, Elevated circulating creatinine concentration... |
OMIM:619111 |
| Fabry Disease |
|
Hypertension, Lipiduria, Urinary mulberry cells, Myocardial infarction, Arrhythmia, Transient isc... |
OMIM:301500 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Incr... |
ORPHA:1349 |
| Alstrom Syndrome |
|
Dilated cardiomyopathy, Hypertension, Decreased HDL cholesterol concentration, Tubulointerstitial... |
OMIM:203800 |
| Simple Cryoglobulinemia |
|
Hypertension, Chronic lymphatic leukemia, Pericarditis, Multiple myeloma, Nephrotic syndrome, Mon... |
ORPHA:91139 |
| Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma... |
OMIM:102200 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level |
OMIM:605115 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Respiratory failure requirin... |
ORPHA:1930 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Renal Fanconi syndrome, Generalized aminoaciduria, Failure to thrive in infancy, Ne... |
OMIM:219800 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... |
OMIM:601198 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Cardiac myxoma, Type II diab... |
ORPHA:189439 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Hypertension |
ORPHA:757 |
| Paragangliomas 3 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Neoplasm, Che... |
OMIM:605373 |
| Methanol Poisoning |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Type II diabetes mellitus, Hyperlipid... |
ORPHA:31825 |
| Shigellosis |
|
Myocarditis, Hyponatremia, Failure to thrive in infancy, Hypovolemic shock, Pneumonia, Hemolytic-... |
ORPHA:810 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Truncal obesity, Hypercholesterolemia, Myocardial infarction, Abdominal obesity |
OMIM:615812 |
| Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypokalemia, Budd-Chiari syndrome, Weight... |
ORPHA:88673 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
| Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperpr... |
ORPHA:73224 |
| Schimke Immuno-Osseous Dysplasia |
|
Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyperlipidem... |
ORPHA:1830 |
| Paragangliomas 4 |
|
Adrenal pheochromocytoma, Neuroblastoma, Extraadrenal pheochromocytoma, Gastrointestinal stroma t... |
OMIM:115310 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Congestive heart failure, Diabetes mellitus, Wolff-Parkinson-White syndrome, Abnorm... |
OMIM:540000 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Pneumonia, Bronchiectasis, Cholesteatoma, Weight loss, Vasculitis in the skin, B-c... |
OMIM:619381 |
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal potas... |
OMIM:612780 |
| Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
| Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism |
OMIM:613743 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia, Renal insufficiency, Mitral regurgitation |
OMIM:173900 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, Diabetes ... |
ORPHA:77296 |
| Riboflavin Transporter Deficiency |
|
Hypertension, Cachexia, Diabetes insipidus, Respiratory insufficiency, Hypogonadism, Sleep apnea |
ORPHA:97229 |
| Tetanus |
|
Hypertension, Elevated urinary epinephrine, Tachypnea, Elevated circulating creatine kinase conce... |
ORPHA:3299 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Decreased circulating renin level, Hypokalemia, Pulmonary arterial hypertension, Ne... |
OMIM:615474 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Hypertension, Diabetes mellitus |
ORPHA:79084 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Hypertension, Congestive heart failure, Hypophosphatemic rickets |
OMIM:208000 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Odontogenic neoplasm, Neoplasm of the skin, Hypophosphatemia, Proximal renal tubular acidosis, Ol... |
ORPHA:534 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Arrhythmia, Respiratory insufficiency |
OMIM:617021 |
| Gitelman Syndrome |
|
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... |
ORPHA:358 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypertension, Shock, Renal tubular dysfunction, Episodic respiratory distress, Decr... |
ORPHA:31826 |
| Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal pattern of respiration, Weight loss, Pulmonar... |
ORPHA:3287 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Hypertension, Increased blood urea nitrogen, Membranoprolif... |
ORPHA:251004 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Failure to thrive, Abnormal renal physiology, Hematuria... |
OMIM:308940 |
| Alg8-Cdg |
|
Failure to thrive, Hyponatremia, Small for gestational age |
ORPHA:79325 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Stiff Skin Syndrome |
|
Abnormal circulating lipid concentration, Hypertension, Type II diabetes mellitus, Nephrolithiasis |
ORPHA:2833 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertension, Hypertriglyceridemia |
OMIM:608600 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, ... |
ORPHA:183 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Hypertension, Primary hypercortisolism, In... |
OMIM:219080 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hypertension, Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Budd-Chiari syndrome... |
ORPHA:49041 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... |
OMIM:610475 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... |
OMIM:610489 |
| Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Sta... |
OMIM:194080 |
| Glycogen Storage Disease Ia |
|
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Hepatocellular carcinoma, Decre... |
OMIM:232200 |
| Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... |
OMIM:603553 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Small for gestational age |
OMIM:613355 |
| Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... |
OMIM:168000 |
| Gaisböck Syndrome |
|
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Nephrocalcinosis, Obesity, Hyp... |
ORPHA:90041 |
| Porphyria, Acute Intermittent |
|
Hypertension, Urinary retention, Hepatocellular carcinoma, Dysuria, Respiratory paralysis, Tachyc... |
OMIM:176000 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension, Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabe... |
OMIM:604367 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokal... |
OMIM:241200 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Hyperinsulinemia, Hypertension, Hypertriglyceridemia |
ORPHA:363400 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Central hypothyroidism, Obstructive sleep apnea, Hyperlipidemia, Ganglioneuroblasto... |
ORPHA:293987 |
| Glycogen Storage Disease Ib |
|
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Hepatocellular carcinoma, Decre... |
OMIM:232220 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension, Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-ur... |
OMIM:235400 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
| Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
| Polycythemia Vera |
|
Hypertension, Myelodysplasia, Respiratory insufficiency, Acute leukemia, Budd-Chiari syndrome, We... |
ORPHA:729 |
| Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Thyroid carcinoma, Meningioma, Goiter, Gingival fibromatosis, Increased ci... |
ORPHA:652 |
| Acute Interstitial Pneumonia |
|
Hypoxemia, Hypertension, Crackles, Bronchiectasis, Tachypnea, Elevated circulating creatinine con... |
ORPHA:79126 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Hypokalemia, Nephrolithiasis, Pituitary adenoma, Abdominal obesity, Obesity, Increa... |
OMIM:219090 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary epinephrine, Elevated urinary catecholamines, Primary hyperparathyroidism, Eleva... |
ORPHA:653 |
| Aicardi-Goutieres Syndrome 9 |
|
Portal hypertension, Hypertension, Pericarditis, Failure to thrive, Weight loss, Glomerular scler... |
OMIM:619487 |
| Nelson Syndrome |
|
Hypertension, Increased urinary cortisol level, Intracranial hemorrhage, Type II diabetes mellitu... |
ORPHA:199244 |
| Werner Syndrome |
|
Ovarian neoplasm, Thyroid carcinoma, Meningioma, Acral lentiginous melanoma, Slender build, Neopl... |
ORPHA:902 |
| Familial Cervical Artery Dissection |
|
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Subara... |
ORPHA:36382 |
| Cocaine Intoxication |
|
Wheezing, Tubulointerstitial nephritis, Ventricular arrhythmia, Diffuse alveolar hemorrhage, Hype... |
ORPHA:90068 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Central hypoventilation, Apnea, Episodic hypertension |
OMIM:619483 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Stress urinary incontinence, Cerebral... |
ORPHA:136 |
| Bardet-Biedl Syndrome |
|
Hypertension, Nephrotic syndrome, Hypoplasia of the ovary, Hypogonadism, Multicystic kidney dyspl... |
ORPHA:110 |
| Acquired Generalized Lipodystrophy |
|
Hypertension, Astrocytoma, Abnormal circulating lipid concentration, Insulin-resistant diabetes m... |
ORPHA:79086 |
| Fabry Disease |
|
Hyperlipidemia, Transient ischemic attack, Nephropathy, Emphysema, Hypertrophic cardiomyopathy, H... |
ORPHA:324 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Increased circulating cortisol level... |
OMIM:615830 |
| Paroxysmal Hemicrania |
|
Rhinitis, Hypertension, Rhinorrhea, Diabetes mellitus |
ORPHA:157835 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hypertension, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
| Alg12-Cdg |
|
Hypospadias, Hyponatremia, Decreased serum insulin-like growth factor 1, Hypocholesterolemia, Chr... |
ORPHA:79324 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Ischemic stroke, Hypertension, Raynaud phenomenon |
OMIM:615750 |
| Senior-Boichis Syndrome |
|
Renal hypoplasia, Hypertension, Abnormal renal insterstitial morphology, Thickening of the tubula... |
ORPHA:84081 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hypertension, Telangiectasia, Pneumonia, Elevated circulating creatinine concentration, Glomerula... |
ORPHA:247691 |
| Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
OMIM:202010 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Raynaud phenomenon |
ORPHA:401945 |
| Caudal Regression Sequence |
|
Hypertension, Ureteral duplication, Abnormality of the ureter, Renal agenesis, Maternal diabetes,... |
ORPHA:3027 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... |
ORPHA:90065 |
| Tuberous Sclerosis Complex |
|
Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Chronic kidney disease, Respiratory failure... |
ORPHA:805 |
| Holoprosencephaly |
|
Hyponatremia, Failure to thrive in infancy, Hypoplasia of penis, Respiratory insufficiency, Diabe... |
ORPHA:2162 |
| Pseudoxanthoma Elasticum |
|
Hypertension, Retinal hemorrhage, Renovascular hypertension, Restrictive cardiomyopathy, Mitral s... |
OMIM:264800 |
| Von Hippel-Lindau Disease |
|
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Myocarditis, Hypertension, Retinal capillar... |
ORPHA:892 |
| Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Exertional dyspnea, Hypertension, Myocardial infarction |
OMIM:133100 |
| Renal Agenesis |
|
Hypertension, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureter... |
ORPHA:411709 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Basal cell carcinoma, Squamous cell ... |
ORPHA:363618 |
| Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Hypertension, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chro... |
OMIM:613159 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Cerebral hemorrhage, Hypertension, Hypergonadotropic hypogonadism, Ischem... |
ORPHA:280679 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia |
OMIM:600666 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Hypertrophic cardiomyopathy, Hypertension, Respiratory insufficiency, Small for gest... |
OMIM:614052 |
| Pediatric-Onset Graves Disease |
|
Hypertension, Increased circulating T4 level, Atrial fibrillation, Goiter, Failure to thrive, Pal... |
ORPHA:525731 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Hypertension, Pulmonary arterial hypertension, Unilateral renal agenesis |
OMIM:608406 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension, Type I diabetes mellitus, Anterior hypopituitarism |
ORPHA:181 |
| Schimke Immunoosseous Dysplasia |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Cerebral ischemia, Elevated... |
OMIM:242900 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Porphyria |
|
Hypertension, Abnormal urinary color, Abnormal circulating porphyrin concentration |
ORPHA:738 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Abnormality of the hypothalamus-pituitary axis, Cerebral ischemia, Recurrent intrapulm... |
ORPHA:900 |
| Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Renal agenesis, Proteinuria, Hypertension |
OMIM:191830 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypertension, Hepatocellular carcinoma, Neoplasm of the liver, Hypercholesterolemia, Diabetes mel... |
ORPHA:69663 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... |
ORPHA:447 |
| Lead Poisoning |
|
Hypertension, Renal tubular dysfunction, Tubulointerstitial nephritis, Abnormal respiratory syste... |
ORPHA:330015 |
| Von Hippel-Lindau Syndrome |
|
Hypertension, Retinal capillary hemangioma, Pulmonary capillary hemangiomatosis, Renal cell carci... |
OMIM:193300 |
| Overlap Myositis |
|
Hypertension, Elevated circulating creatine kinase concentration, Abnormal circulating lipid conc... |
ORPHA:206572 |
| Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Renal hypoplasia, Syncope, Renal tubular dysfunction, Prominent U wave, B... |
ORPHA:37553 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... |
ORPHA:786 |
| Beta-Ketothiolase Deficiency |
|
Hypertension, Tachypnea, Weight loss, Cough, Hyperuricemia, Hyperammonemia, Hypotension, Ketonuria |
ORPHA:134 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Abnormal renal physiology, Elevated circulating creatinine... |
OMIM:223900 |
| Methylcobalamin Deficiency Type Cble |
|
Hyperhomocystinemia, Hypomethioninemia, Hypertension, Failure to thrive, Hemolytic-uremic syndrom... |
ORPHA:2169 |
| Sneddon Syndrome |
|
Cerebral hemorrhage, Hypertension, Ischemic stroke |
OMIM:182410 |
| Congenital Hypothyroidism |
|
Sinusitis, Hypertension, Goiter, Nephrolithiasis, Hypogonadism, Abnormality of the thyroid gland,... |
ORPHA:442 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot... |
ORPHA:3337 |
| Japanese Encephalitis |
|
Hyponatremia, Abnormal pattern of respiration, Inappropriate antidiuretic hormone secretion, Resp... |
ORPHA:79139 |
| Spondyloenchondrodysplasia |
|
Hypertension, Pneumonia, Hematuria, Raynaud phenomenon, Enchondroma, Vasculitis, Hypothyroidism, ... |
ORPHA:1855 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia, Hypertension |
ORPHA:90044 |
| Grange Syndrome |
|
Hypertension, Aortic regurgitation |
ORPHA:79094 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertension, Hyperlipidemia, Nephrocalcinosis, Failure to thrive, Hepatocellular carcinoma, Tubu... |
ORPHA:79259 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Hypertensive crisis, Pulmonary arterial hypertension, Telangiectasia of the skin, Oliguria, Conge... |
ORPHA:220393 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypoproteinemia, Epistaxis, Increased circulating ferritin concentration, Hypertrig... |
ORPHA:167 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hypertension, Maternal diabetes, Insulin-resistant diabetes mellitus... |
ORPHA:79083 |
| Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Hypokalemia, Card... |
ORPHA:466677 |
| Galloway-Mowat Syndrome 3 |
|
Hypertension, Nephrotic syndrome, Failure to thrive, Glomerular sclerosis, Stage 5 chronic kidney... |
OMIM:617729 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hypertension, Chronic pulmonary obstruction, Elevated circulating creatine kinase concentration, ... |
ORPHA:437572 |
| Pseudohypoparathyroidism Type 1A |
|
Elevated circulating parathyroid hormone level, Hypertension, Hypocalcemic tetany, Calcinosis, Pr... |
ORPHA:79443 |
| Primary Lipodystrophy |
|
Hypertension, Type II diabetes mellitus, Hyperlipidemia, Cardiomyopathy, Congestive heart failure... |
ORPHA:90970 |
| Buschke-Ollendorff Syndrome |
|
Hemangioma, Hypertension, Renal insufficiency |
ORPHA:1306 |
| Sickle Cell Anemia |
|
Hypoxemia, Hematuria, Hypertension, Renal insufficiency |
OMIM:603903 |
| Coach Syndrome 1 |
|
Hypertension, Nephronophthisis, Multipl |
