Pseudohypoaldosteronism, Type Iia |
|
Hyperchloremic acidosis, Hypertension, Hyperkalemia |
OMIM:145260 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Metabolic acidosis, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperchl... |
OMIM:614496 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Metabolic acidosis, Hypertension, Decreased serum bicarbonate concentration, Pseudo... |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperchloremic metabolic aci... |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperchloremic metabolic aci... |
OMIM:614495 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l... |
OMIM:620125 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin... |
OMIM:264350 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Hyperaldost... |
OMIM:177735 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l... |
OMIM:620126 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ... |
OMIM:145600 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hypertension, Hypokalemia, Hyp... |
OMIM:613677 |
Hypokalemic Tubulopathy And Deafness |
|
Acidosis, Increased circulating renin level, Hyperaldosteronism, Renal salt wasting |
OMIM:619406 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldo... |
ORPHA:404 |
Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556037 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hyperkale... |
ORPHA:427 |
Liddle Syndrome 2 |
|
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:618528 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor... |
OMIM:214700 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-insensitive primary h... |
ORPHA:231625 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insens... |
ORPHA:251274 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556030 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Hsd10 Disease, Neonatal Type |
|
Abnormal circulating enzyme concentration or activity, Metabolic acidosis, Lactic acidosis, Hyper... |
ORPHA:391457 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos... |
OMIM:607364 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D... |
OMIM:203400 |
Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... |
OMIM:103900 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d... |
OMIM:268200 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi... |
OMIM:613090 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231632 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Metabolic acid... |
ORPHA:171876 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-... |
ORPHA:231580 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Increased serum lactate, Elevated ... |
OMIM:615158 |
Liddle Syndrome 1 |
|
Hypertension, Hypokalemic alkalosis, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Nephrolithiasis, Abnormal circulating renin,... |
ORPHA:369929 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Metabolic... |
OMIM:620152 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Hyperald... |
ORPHA:199343 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... |
OMIM:614736 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
OMIM:619386 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent... |
OMIM:612780 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Metabolic acidosis, Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduc... |
OMIM:231900 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise... |
ORPHA:99845 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... |
ORPHA:97362 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular acidosis, Met... |
OMIM:604278 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul... |
OMIM:137950 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Metabolic alkalosis, Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokal... |
OMIM:615474 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Increased serum lactate, Lactic acidosis, Low-output congestive heart failure, Metabolic acidosis... |
ORPHA:91130 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis |
OMIM:600467 |
Familial Pseudohyperkalemia |
|
Hypertension, Hyperkalemia |
ORPHA:90044 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia |
ORPHA:79246 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated lactate:pyruvate ratio, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:614582 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Reduced circulating aldolase concentration, Hyperkalemia... |
ORPHA:57 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:94086 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Mitochondrial Complex I Deficiency, Nuclear Type 24 |
|
Increased serum lactate |
OMIM:618245 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, High-output congestive heart failure, Myoglobinuria, Ventricular tachycard... |
ORPHA:423 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperpro... |
OMIM:619003 |
Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv... |
ORPHA:2118 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc... |
OMIM:602522 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp... |
ORPHA:94093 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... |
OMIM:601678 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypokalemic metabolic alkalosis, Renal salt wasting, Increased urinary potassium, I... |
ORPHA:89938 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Renal insufficiency, Decreased circulating cortisol level,... |
ORPHA:95409 |
Galactosemia I |
|
Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:230400 |
Polycystic Kidney Disease 7 |
|
Hypertension, Renal insufficiency, Multiple renal cysts, Stage 5 chronic kidney disease |
OMIM:620056 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Increased serum lactate, Hyperammonemia,... |
OMIM:615160 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:619048 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:614053 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine concentratio... |
OMIM:620366 |
Apparent Mineralocorticoid Excess |
|
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:218030 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Metabolic acidosis, Congestive heart failure |
OMIM:301021 |
Sulfide:Quinone Oxidoreductase Deficiency |
|
Lactic acidosis, Elevated circulating creatine kinase concentration |
OMIM:619221 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Elevated hepatic transaminase, Ketoacidosis, Lactic acidosis, Metabolic... |
OMIM:246900 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypokalemic metabolic alkalosis, Sudden cardiac death, Congestive heart failure, Abnormal renal t... |
ORPHA:73224 |
Tricarboxylic Acid Cycle, Defect Of |
|
Persistent lactic acidosis |
OMIM:275370 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:619062 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia |
ORPHA:526 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Metabolic acidosis, Hyperalaninemia |
ORPHA:2597 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... |
ORPHA:361 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperp... |
OMIM:616299 |
Intellectual Developmental Disorder, Autosomal Recessive 1 |
|
Increased serum lactate |
OMIM:249500 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Increased serum lactate, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransfera... |
OMIM:615395 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Hypercholesterolemia, Myocardial infarction |
OMIM:608320 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated lactate:pyruvate ratio, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:616974 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... |
ORPHA:90791 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Chronic lactic acidosis, ... |
OMIM:603358 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Low plasma citrulline, Lactic acidosis, Elevated urine acetoacetic acid le... |
OMIM:615751 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Isolated Glycerol Kinase Deficiency |
|
Metabolic acidosis, Elevated circulating creatine kinase concentration, Adrenocortical hypoplasia |
ORPHA:408 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... |
ORPHA:31826 |
Succinic Acidemia |
|
Lactic acidosis |
OMIM:600335 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Lactic acidosis |
OMIM:551000 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... |
ORPHA:168558 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Renal salt wasting, Acidosis, Hyponatremia, Hypovolemia, Elevated circulat... |
ORPHA:275761 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta... |
OMIM:222748 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre... |
OMIM:241150 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:85138 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, ... |
ORPHA:199299 |
3-Hydroxyisobutyric Aciduria |
|
Ketoacidosis, Lactic acidosis, Episodic ketoacidosis |
OMIM:236795 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Reduced l... |
OMIM:614096 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:616209 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypergonadotropic hypogonadism, Increased serum lactate, Elevated circulating thyroid-stimulating... |
OMIM:617872 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Hypokalemic metabolic alkalosis, Increased serum prostaglandin E2, Polyuria, Re... |
OMIM:241200 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis, Hyperammonemia |
OMIM:614111 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lactic acidosis, Dicarboxylic aciduria, Metabol... |
OMIM:615026 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Increased serum lactate, Congestive heart failure, Dilated cardiomyopathy, Lactic acidosis, Arrhy... |
OMIM:616198 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Increased serum lactate, Increased serum pyruvate |
OMIM:614055 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis |
OMIM:602722 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Hyperkalemic metabolic acidosis, Premat... |
ORPHA:90794 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Metabolic acidosis, Bradycardia, Hyp... |
OMIM:617222 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... |
OMIM:613237 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... |
ORPHA:358 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis |
OMIM:616111 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, N... |
OMIM:616026 |
Apparent Mineralocorticoid Excess |
|
Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro... |
ORPHA:320 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:618243 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:607832 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Metabolic acidosis, Cardiomyopathy, Ethylmaloni... |
ORPHA:26792 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Increased serum lactate, Congestive heart failure, Lactic acidosi... |
OMIM:618234 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia, Chronic lactic acidosis |
OMIM:150170 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Myocarditis, Congestive ... |
ORPHA:31824 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated hepatic transaminase, Abnormal cardia... |
ORPHA:2394 |
Fanconi-Bickel Syndrome |
|
Chronic acidosis, Elevated gamma-glutamyltransferase level, Acidosis, Ketonuria, Hypouricemia, El... |
OMIM:227810 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... |
OMIM:610947 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Hypertension... |
OMIM:617595 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Tiglic Acidemia |
|
Acidosis |
OMIM:275190 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr... |
OMIM:201810 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Congestive heart failure, Increased serum lactate, Severe lactic acidosis |
OMIM:616794 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopat... |
OMIM:618189 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Acute kidney injury, Elevated circulating creatine kinase conc... |
ORPHA:466650 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Metabo... |
OMIM:611555 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hypertensio... |
OMIM:601894 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Lactic acidosis, Hyperuricemia, Hypercholest... |
OMIM:306000 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Glutathione Synthetase Deficiency |
|
Chronic metabolic acidosis |
ORPHA:32 |
Nail-Patella-Like Renal Disease |
|
Hypertension, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ... |
ORPHA:90790 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Ketoacidosis, Dilated cardiomyopathy, Hyperam... |
OMIM:618120 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate |
OMIM:251950 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Hy... |
OMIM:611590 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Glycosuria, Aminoaciduria, Hypophospha... |
OMIM:618913 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Increased serum lactate, Metabolic acidosis, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Metabolic acidosis, Glycosuria,... |
OMIM:615605 |
Oxoglutarate Dehydrogenase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis |
OMIM:203740 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati... |
ORPHA:766 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... |
OMIM:617610 |
Renal Tubular Acidosis, Proximal |
|
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis |
OMIM:179830 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Lactic acidosis, Organic aciduria, Increased serum lactate |
OMIM:614741 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l... |
OMIM:272300 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Metabolic acidosis, Lactic acidosis |
OMIM:618776 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Lactic acidosis, Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Metab... |
OMIM:251120 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated lactate:pyruvate ratio, Ketonuria,... |
OMIM:615453 |
Lactase Deficiency, Congenital |
|
Metabolic acidosis |
OMIM:223000 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminot... |
ORPHA:2088 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
D-Glyceric Aciduria |
|
Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve... |
ORPHA:941 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis |
OMIM:613944 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Metabolic acidosis, Lactic acidosis, Reduced left ... |
OMIM:616501 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Lactic acidosis, Decreased circulating ferritin concentration |
ORPHA:330054 |
Fibronectin Glomerulopathy |
|
Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypertension, Hypoalbu... |
ORPHA:84090 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Increased serum lactate, Metabolic acidosis |
OMIM:610090 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Chronic lactic acidosis, Lactic acidosis, Meta... |
OMIM:312170 |
Mitochondrial Phosphate Carrier Deficiency |
|
Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:610773 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Increased serum lactate, Hyperprolinemia, Lactic acidosis, Cardiomyopat... |
OMIM:619046 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase ... |
OMIM:618805 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, ... |
OMIM:613404 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur... |
ORPHA:289504 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Lactic acidosis, Hypertrophic cardiomyopathy, M... |
OMIM:300438 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad... |
OMIM:617053 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hematuria, Hypertension, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616818 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Increased serum lactate, Hyperammonemia, Lactic acidosis, Pulmonary arte... |
OMIM:619051 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Hyperlipidemia, Postprandi... |
ORPHA:369 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Renal insufficiency, Fatal liver failure in infancy, Severe lactic acidosis |
ORPHA:254857 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Bradycardia, Hypera... |
OMIM:614702 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Elevated circulating creatine... |
OMIM:500009 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos... |
OMIM:266150 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Increased serum lactate, Lactic acidosis, Hyperalaninemia, Hypert... |
OMIM:618378 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis |
OMIM:245349 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased serum lactate, Hematuria, Hypertension, Second degree atrioventricular block, Lactic ac... |
OMIM:617021 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Increased serum lactate, Hypertrophic cardiomyopathy, Metabolic acidosis |
OMIM:618237 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Hypertrophi... |
OMIM:618228 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Increased serum lactate, Fulminant hepatic failure, Metabolic acidosis, Elevated lactate:pyruvate... |
OMIM:609060 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Lactic acidosis, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
3-Methylglutaconic Aciduria Type 4 |
|
Lactic acidosis, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function |
ORPHA:67048 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating renin level |
OMIM:605115 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Organic aciduria |
OMIM:617184 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
OMIM:612933 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentration, Abnormal... |
ORPHA:79096 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Cardiac arrest, Elevated circulating creatine kinase co... |
OMIM:616878 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Increased serum lactate, Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:614652 |
Trimethylaminuria |
|
Hypertension, Tachycardia, Trimethylaminuria |
OMIM:602079 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis, Reduced glutathione ... |
OMIM:266130 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophi... |
ORPHA:225 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Increased serum lactate, Congestive heart ... |
ORPHA:70472 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxyli... |
OMIM:613070 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Increased serum lactate, Metabolic acidosis |
OMIM:618225 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Abnormality... |
ORPHA:848 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:618416 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper... |
OMIM:614473 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated creatine kinase after exercise, Di... |
ORPHA:99901 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentra... |
ORPHA:173 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h... |
ORPHA:53693 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Increased serum lactate |
OMIM:617228 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Increased serum lactate, Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:618236 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Cardiac arrest, Metabolic acidosis, Bradycardia, Hypertrophic cardiomyopathy, Acidosis |
OMIM:618235 |
Glucocorticoid Resistance, Generalized |
|
Metabolic alkalosis, Increased circulating ACTH level, Hypertension, Increased circulating cortis... |
OMIM:615962 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hypertrophic cardio... |
OMIM:611719 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Cerebellar hemorrhage, Hyperglycinuria, Hyperammonemia... |
OMIM:606054 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Hyperlysinuria, Reduced liver 2,4-dienoyl-CoA reduct... |
OMIM:616034 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Metabolic acidosis, Renal tubular aci... |
ORPHA:79155 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Methylmalonic aciduria, La... |
OMIM:248360 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:545000 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Acute pancreatitis, Elevated circulating creatine kinase concentra... |
ORPHA:26791 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Renal tubu... |
ORPHA:213 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Lactic acidosis, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated lactate:pyruvate ratio, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:245400 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis, Hyperglycinemia, Beta-amino... |
OMIM:615330 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb... |
OMIM:619355 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Lactic acidosis, Increased serum lactate, Abnormal circulating pyruvate family amino acid concent... |
ORPHA:255182 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Hyperammonemia |
OMIM:610678 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Lactic ... |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Lactic ... |
OMIM:618835 |
Preeclampsia |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Elevated dias... |
ORPHA:275555 |
Hawkinsinuria |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid... |
OMIM:140350 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Metabolic alkalosis, Precocious puberty, I... |
ORPHA:786 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Increased serum lactate, Elevated lactate:pyruvate ratio, Metabolic acidosis, Lacticaciduria |
OMIM:618247 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Metabolic acidosis,... |
OMIM:246450 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia |
ORPHA:3222 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Increased serum lactate, Elevated circulating creatine kinase concentration |
OMIM:617069 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate |
OMIM:617668 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Jaundice, Hyperkalemia, Elevated gamma-glutamyltransferase level |
OMIM:608885 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Increased serum lactate, Hyperammonemia, L... |
ORPHA:391428 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Elevated gamma-glutamy... |
ORPHA:247598 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis |
OMIM:161950 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:615917 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Elevated hepatic transam... |
OMIM:229600 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, H... |
ORPHA:228308 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Metabolic acidosi... |
OMIM:210210 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Metabolic acidosis |
OMIM:618224 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Acute hepatic failure, D... |
ORPHA:71212 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Increased ... |
OMIM:606407 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Increased serum lactate, Lactic acidosis, Pulmonary arterial hypertension, Hyperglycinemia, Hyper... |
OMIM:619059 |
Perrault Syndrome 5 |
|
Increased serum pyruvate, Increased serum lactate, Hypergonadotropic hypogonadism, Elevated circu... |
OMIM:616138 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... |
ORPHA:90793 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Ventricular tach... |
OMIM:263800 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Exercise-induced lactic acidemia, Increased serum lactate, ... |
OMIM:212350 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Bradycardia |
OMIM:614654 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Lactic acidosis, Decreased circulating cortisol level, Elevated circulating creatine kinase conce... |
OMIM:618838 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating aspartate aminotransferase concentration, Aciduria, Increased serum lactate,... |
OMIM:617950 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
ORPHA:2364 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Acidosis, Low plasma citrulline, Hyperammonemia, Hepatic failure |
OMIM:618567 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Metabolic acidosis, Myoglobinuria, Decreased liver function |
OMIM:602199 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Diabetes mellitus, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria, Hyper... |
ORPHA:544482 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating... |
ORPHA:567544 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... |
ORPHA:90795 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia... |
ORPHA:348 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Increased serum la... |
OMIM:605711 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrogenic d... |
OMIM:208085 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Elevated hepatic transaminase, Tachycardia, Elevated circulating creatine ... |
ORPHA:26793 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Metabolic ketoacidosis, Cerebellar hemorrhage, Stage 5 chronic kidney dis... |
OMIM:251000 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... |
OMIM:171400 |
Adenosine Monophosphate Deaminase Deficiency |
|
Increased serum lactate, Elevated creatine kinase after exercise |
ORPHA:45 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Lactic acidosis, Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Increased serum lactate, Methylma... |
OMIM:614105 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart bl... |
ORPHA:416 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Increased serum lacta... |
OMIM:613845 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Increased serum lactate, Metabolic acidosis, Bradycardia, Hypotension, Acidosis |
ORPHA:391673 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension, Diabetic ketoacidosis, Increased C-peptide level, Hypertriglyceridemia |
OMIM:615238 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica... |
OMIM:618250 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:609015 |
Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated ... |
ORPHA:681 |
Combined Oxidative Phosphorylation Deficiency 48 |
|
Increased serum lactate, Lactic acidosis |
OMIM:619012 |
Diarrhea 4, Malabsorptive, Congenital |
|
Hyperchloremic metabolic acidosis |
OMIM:610370 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lactic acidosis |
OMIM:608782 |
Glycogen Storage Disease Ixc |
|
Increased serum lactate, Lactic acidosis, Hypertriglyceridemia, Elevated hepatic transaminase |
OMIM:613027 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... |
ORPHA:79644 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615595 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Reduced circulating aldolase concentration, Episodic hyperhidrosis, Jaundice... |
ORPHA:469 |
Isovaleric Acidemia |
|
Ketoacidosis, Cerebellar hemorrhage, Metabolic acidosis, Hyperglycinuria |
OMIM:243500 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate |
OMIM:612016 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:618229 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Acidosis |
OMIM:204730 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased serum lactate, Lacticaciduria, Hyperglycinemia |
OMIM:619063 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Dilated cardiomyopathy, Micropenis, Lactic acidosis, Bradycardia, Hypertrophic cardi... |
OMIM:618815 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Increased serum lactate, Elevated hepatic transaminase |
OMIM:613561 |
Scorpion Envenomation |
|
Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Hyperh... |
ORPHA:466677 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lactic acidosis, Cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:615119 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Increased serum lactate, Metabolic acidosis, Elevated hepatic transaminase |
OMIM:618958 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Increased serum lactate, Congestive heart failure, Dilated cardiomyopat... |
ORPHA:1349 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hypertriglyceridemia |
ORPHA:71529 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hyperalani... |
OMIM:614739 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Metabolic acidosis, Diabetic ketoacidosis, Hypotension |
ORPHA:70578 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... |
OMIM:202010 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Hypokalemic alkalosis |
OMIM:202110 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Hematu... |
OMIM:232240 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Increased serum lactate, Renal hypoplasia, Metabolic acidosis, Hypertrophic cardiomyop... |
OMIM:619053 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Increased serum lactate, Metabolic acidosis |
OMIM:617290 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidosis |
OMIM:612075 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Senior-Loken Syndrome |
|
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lactic acidosis, Increased serum lactate, Elevated hepatic transaminase |
OMIM:610498 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... |
OMIM:251100 |
Isolated Atp Synthase Deficiency |
|
Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aci... |
ORPHA:254913 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertyrosinemia, Renal insufficiency, Acute hepatic failure, Elevat... |
OMIM:276700 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Lactic acidosis |
OMIM:618246 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Chronic kidney disea... |
ORPHA:324525 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Proteinuria, Hyperlipidemia, Nephrolithiasis, Lactic acidosis, Hyp... |
OMIM:232200 |
3-Methylglutaconic Aciduria, Type I |
|
Metabolic acidosis, 3-Methylglutaconic aciduria, Urinary incontinence |
OMIM:250950 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... |
ORPHA:439232 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Increased serum lactate, Ketoacidosis, Hyperammonemia, Metabolic acidosis, Hypertensio... |
ORPHA:134 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co... |
OMIM:618183 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Cardiac arrest, Elevated circulating creatine kinase concentration... |
OMIM:617713 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Diabetes mellitus, Congestive heart failure, Elevated transferrin saturation, In... |
ORPHA:139507 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Nephrolithiasis, Alkalosis, Increased circulating ACTH level, Hypertension, Hy... |
OMIM:219090 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinary 3-methylc... |
OMIM:253270 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom... |
ORPHA:97289 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Tachycardia, Proteinuria, Metabolic ketoacidosis, Abnormal circula... |
ORPHA:263455 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Metabolic acidosis, Medium chain dicarboxylic aciduria, Hyperglycinuria, Elevated hepatic transam... |
OMIM:201450 |
Glycogen Storage Disease 0, Liver |
|
Increased serum lactate |
OMIM:240600 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act... |
OMIM:277400 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Increased serum lactate, Lactic acidosis, Pancreatitis |
OMIM:618230 |
Glutaric Acidemia I |
|
Ketonuria, Glutaric aciduria, Metabolic acidosis, Reduced peroxisomal glutaryl-CoA oxidase activi... |
OMIM:231670 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr... |
ORPHA:47159 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis |
OMIM:618253 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Low plasma citrulline, Renal steatosis, Elevated circulating alanine aminotransferase ... |
OMIM:261680 |
Coproporphyria, Hereditary |
|
Increased urinary porphobilinogen, Tachycardia, Hypertension, Elevated urinary delta-aminolevulin... |
OMIM:121300 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Metabolic acidosis, Hy... |
OMIM:251110 |
Glucose/Galactose Malabsorption |
|
Metabolic acidosis, Glycosuria |
OMIM:606824 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy |
OMIM:105200 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Elevated circulati... |
ORPHA:329918 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Co... |
OMIM:615824 |
Leprechaunism |
|
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... |
ORPHA:508 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Lactic acidosis, Increased serum lactate |
ORPHA:139485 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes... |
ORPHA:293987 |
Familial Cervical Artery Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... |
ORPHA:36382 |
Type 1 Diabetes Mellitus |
|
Ketoacidosis, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated cir... |
ORPHA:35706 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Increased serum lactate |
OMIM:614458 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Renal tub... |
ORPHA:431361 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Lactic acidosis, Renal tubu... |
OMIM:530000 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Lactic acidosis, Increased serum lactate |
OMIM:618239 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyo... |
OMIM:611126 |
Helix Syndrome |
|
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,... |
OMIM:617671 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lactic acidosis, Increased serum lactate, Metabolic acidosis |
OMIM:618226 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... |
ORPHA:90363 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Increased serum lactate, Hyperprolinemia, Pulmonary arterial hyper... |
OMIM:619064 |
Pearson Syndrome |
|
Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Renal cys... |
ORPHA:699 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Elevated lactate:pyruvate ratio, Increased serum lactate, Mitral regurgitat... |
OMIM:614651 |
D-Glyceric Aciduria |
|
Reduced hepatic D-glycerate kinase activity, Nonketotic hyperglycinemia, Metabolic acidosis, Amin... |
OMIM:220120 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Lactic acidosis, Adrenal insufficiency |
OMIM:618238 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Elevated circulating creatinine concentration, Abnormal renal corticomedullary diff... |
OMIM:616733 |
Mercury Poisoning |
|
Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
Enteric Anendocrinosis |
|
Hyperchloremic metabolic acidosis, Portal hypertension |
ORPHA:83620 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Hypergo... |
OMIM:607426 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Increased serum lactate, Hyperalaninemia, Hyperprolinemia |
OMIM:615918 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Heart murmur, Severe... |
OMIM:615418 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Severe lactic acidosis, Mildly elevated creatine kinase, Decreased circulating carnitine concentr... |
ORPHA:254864 |
3-Hydroxyisobutyric Aciduria |
|
Lactic acidosis, Hypogonadotropic hypogonadism |
ORPHA:939 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Episodic metabol... |
OMIM:210200 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failu... |
ORPHA:94080 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Increased serum lactate, Lactic acidosis, 3-Methylglutaconic acidu... |
OMIM:618329 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... |
OMIM:174000 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Proteinuria, Hyperlipidemia, Nephrolithiasis, Lactic acidosis, Hyp... |
OMIM:232220 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Increased circulating lactate dehydrogenase concentration, Increased se... |
OMIM:619405 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Hypertension |
ORPHA:220 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Lactic acidosis, Delayed puberty |
ORPHA:2598 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Increased serum lactate, Hypothyroidism, Mildly elevated creatine kinase |
ORPHA:663 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Raynaud phenomenon, Arterial... |
OMIM:259900 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating... |
ORPHA:36234 |
Encephalopathy, Ethylmalonic |
|
Lactic acidosis, Elevated circulating butyrylcarnitine concentration, Ethylmalonic aciduria |
OMIM:602473 |
Rhabdoid Tumor |
|
Hematuria, Hypertension, Internal hemorrhage, Hypercalcemia |
ORPHA:69077 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Increased serum lacta... |
OMIM:612073 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Lactic acidosis |
OMIM:619065 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Hypertension, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:615862 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammonemia, Hyperprolinemi... |
OMIM:620358 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic ac... |
OMIM:251900 |
Diarrhea 12, With Microvillus Atrophy |
|
Metabolic acidosis |
OMIM:619445 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Ketonuria, Elevated circulati... |
ORPHA:480864 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Chronic kidney disease, Nephrolit... |
ORPHA:976 |
Ochoa Syndrome |
|
Renal insufficiency, Urinary incontinence, Urethral obstruction, Hypertension, Vesicoureteral ref... |
ORPHA:2704 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Acute pancreatitis, Ketonuria, Cardiac arrest, Increased serum lac... |
ORPHA:20 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocalci... |
OMIM:104200 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic syndrome, Increas... |
OMIM:274150 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Elevated lactate:pyruvate ratio, Cardiac arrest, Increased serum lactat... |
OMIM:604377 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased serum lactate, Lactic acidosis, Methylmalonic aciduria |
OMIM:615578 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... |
OMIM:612561 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia |
OMIM:600666 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive protei... |
ORPHA:319213 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Nephropathy, Hypertension |
ORPHA:820 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Intraventricular hem... |
OMIM:619055 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Stress/infection-induced lactic acidosi... |
OMIM:252011 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Xerostomia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micropenis |
ORPHA:52022 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Renal insufficiency, Mitral regurgitation, Polycystic kidney dysplasia |
OMIM:173900 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hyper... |
ORPHA:90038 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Increased serum lactate, Renal hypoplasia, Renal cyst, Lactic acidosis, Rena... |
OMIM:614922 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Increased serum lactate, Metabolic acidosis, Patent urachus |
OMIM:618252 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction, Lactic acidos... |
OMIM:220110 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hyperglutamatemia, I... |
ORPHA:3008 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Increased serum lactate, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Abno... |
ORPHA:521411 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke |
OMIM:615750 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hypertriglyceridemia |
OMIM:613877 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... |
ORPHA:97287 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Lactic acidosis, Aminoaciduria, Renal ... |
ORPHA:436271 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Congestive hea... |
OMIM:615895 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hyperhidrosis, Lactic acidosis, Hyperglycinemia, Hypertrophic cardiomyopathy |
OMIM:614299 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Abnormal medullary pyramid morphology, Lactic ... |
ORPHA:79243 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating crea... |
OMIM:615980 |
Myopathy With Lactic Acidosis, Hereditary |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Pal... |
OMIM:255125 |
Vipoma |
|
Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo... |
ORPHA:97282 |
Stiff Skin Syndrome |
|
Hypertension, Abnormal circulating lipid concentration, Nephrolithiasis |
ORPHA:2833 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:618241 |
Infantile Liver Failure Syndrome 1 |
|
Lactic acidosis, Acute hepatic failure, Elevated hepatic transaminase |
OMIM:615438 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hypercalciuria, Lactic acidosis, Metabolic acidosis, 3-Methylgluta... |
OMIM:557000 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Hypertriglyceridemia |
ORPHA:280356 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Stress/infectio... |
OMIM:618775 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Beta-Ureidopropionase Deficiency |
|
Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Bladder exst... |
OMIM:613161 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... |
ORPHA:264580 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Elevated circulating hexacosanoic acid... |
OMIM:614388 |
Fumarase Deficiency |
|
Increased urine succinate level, Bilateral fetal pyelectasis, Decreased fumarate hydratase activi... |
OMIM:606812 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Metabolic acidosis, Tachycardia, Increased urinary glycerol |
OMIM:229700 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveolar h... |
OMIM:614034 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor... |
OMIM:615838 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Unilateral renal agenesis, Chronic kidney disea... |
ORPHA:93101 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Metabolic acidosis, Hypovolemia, Abnormal renal physiology |
ORPHA:2290 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase conc... |
ORPHA:99829 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Lactic acidosis, Hydroureter, Hydronephrosis |
OMIM:618240 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Hypertension |
ORPHA:1192 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Elevated lactate:pyruvate ratio, Increased serum... |
OMIM:124000 |
Sepsis In Premature Infants |
|
Tachycardia, Elevated circulating C-reactive protein concentration, Jaundice, Oliguria, Metabolic... |
ORPHA:90051 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Hyperglycerolemia, C... |
OMIM:307030 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein concentration, Portal hyper... |
OMIM:251880 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased serum lactate, Increased circulating ferritin concentration, Lactic acidosis, Delayed p... |
OMIM:600462 |
Interstitial Lung And Liver Disease |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615486 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Hypokalemia, Aminoaci... |
OMIM:617913 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Hypospadias, Renal salt wasting |
OMIM:201910 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Increased serum lactate, Metabolic acidosis |
ORPHA:88639 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acido... |
OMIM:615471 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy... |
ORPHA:767 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated cir... |
OMIM:619573 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Hypertension, 3-Methylglut... |
OMIM:614052 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Lac... |
ORPHA:298 |
Nephronophthisis 1 |
|
Polyuria, Stage 5 chronic kidney disease, Hypertension, Hyposthenuria, Renal corticomedullary cys... |
OMIM:256100 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ho... |
ORPHA:562 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... |
ORPHA:79240 |
Serotonin Syndrome |
|
Tachycardia, Hyperhidrosis, Lactic acidosis, Hypertension, Hypotension, Hepatic failure, Acute ki... |
ORPHA:43116 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Lactic acidosis, Mitr... |
OMIM:619167 |
Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Increased serum lactate, Congestive heart ... |
ORPHA:506 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Hypertriglyceridemia |
OMIM:608600 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension |
ORPHA:79084 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopath... |
OMIM:231680 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Fas... |
ORPHA:769 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... |
ORPHA:276621 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Lactic acidosis, Hypoalbuminemia, Internal he... |
ORPHA:99826 |
Takayasu Arteritis |
|
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... |
ORPHA:3287 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Coach Syndrome 2 |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:619111 |
Congenital Short Bowel Syndrome |
|
Metabolic acidosis, Steatorrhea |
OMIM:615237 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Lactic acidosis, Aminoaciduria, Increased serum lactate, Elevated hepatic iron concentration |
OMIM:614946 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration... |
OMIM:610505 |
Pyridoxine-Dependent Epilepsy |
|
Lactic acidosis |
ORPHA:3006 |
Ethylmalonic Encephalopathy |
|
Lactic acidosis, Ethylmalonic aciduria |
ORPHA:51188 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:614924 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop... |
OMIM:618886 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Pulmon... |
ORPHA:79282 |
Ppoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ab... |
ORPHA:97278 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Lactic acidosis, Increased serum lactate, Horseshoe kidney |
OMIM:617664 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Metabolic acidosis |
OMIM:214150 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:97283 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypospadias, Increased serum lactate, Lactic acidosis, Bradycardia, Pulmonary arterial hypertension |
OMIM:619272 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh... |
ORPHA:136 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ... |
ORPHA:3299 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Increased serum lactate |
OMIM:614462 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension |
OMIM:616069 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Cerebral hemorrhage, Lactic acidosis, Abnormal renal corticomedull... |
OMIM:617397 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Renal arte... |
OMIM:208000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Proteinuria, Epistax... |
ORPHA:79259 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Acidosis |
ORPHA:464453 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Chronic kidney disease, Elevated circulating creatinine concentration, Stage... |
ORPHA:730 |
Infant Botulism |
|
Hyponatremia, Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Juvenile Paget Disease |
|
Hypertension, Hyperuricemia |
ORPHA:2801 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated hepatic transaminase, Hypoplasia of penis, Increased serum lactat... |
ORPHA:66634 |
Grfoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ne... |
ORPHA:97261 |
Osteopetrosis With Renal Tubular Acidosis |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating creatine kinase conce... |
ORPHA:2785 |
Posterior Urethral Valve |
|
Renal insufficiency, Urinary incontinence, Dysuria, Urethral stenosis, Chronic kidney disease, St... |
ORPHA:93110 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P... |
OMIM:170390 |
Glutaric Aciduria Iii |
|
Glutaric aciduria, Hypertension |
OMIM:231690 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Gly... |
OMIM:616539 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Increased seru... |
OMIM:610131 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile acid concentration... |
OMIM:619377 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Leigh Syndrome |
|
Lactic acidosis, Increased serum lactate |
OMIM:256000 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Microcephaly, Amish Type |
|
Lactic acidosis |
OMIM:607196 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Micropenis, Tachycardia |
OMIM:613870 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Bilateral renal hypoplasia, Elevated... |
ORPHA:2260 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypertension, Hyperuricemia |
OMIM:604367 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension |
ORPHA:181 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Melas |
|
Wolff-Parkinson-White syndrome, Hypoparathyroidism, Diabetes mellitus, Proteinuria, Hypogonadotro... |
ORPHA:550 |
Cirrhosis, Familial |
|
Increased level of propylene glycol in blood, Hypertension, Pulmonary arterial hypertension, Incr... |
OMIM:215600 |
Papillorenal Syndrome |
|
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... |
OMIM:120330 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Lactic acidosis, Cardiomyopathy, Increased serum lactate |
OMIM:617710 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, ... |
OMIM:203780 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Frasier Syndrome |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hyperte... |
ORPHA:347 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hypertriglyceridemia |
ORPHA:363400 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... |
ORPHA:567546 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hypertension, Hyperuricemia |
ORPHA:77296 |
Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro... |
ORPHA:79473 |
Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Increased ser... |
OMIM:619743 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration ... |
ORPHA:17 |
Amish Lethal Microcephaly |
|
Metabolic acidosis, Organic aciduria |
ORPHA:99742 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Lactic acidosis |
OMIM:245348 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension |
ORPHA:251992 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Elevated circulating creatinine con... |
ORPHA:247691 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... |
ORPHA:29072 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:97280 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lactic acidosis |
OMIM:618232 |
Renal Dysplasia |
|
Multicystic kidney dysplasia, Abnormal renal calyx morphology, Renal insufficiency, Urinary incon... |
ORPHA:93108 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Lactic acidosis |
ORPHA:1170 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... |
OMIM:263200 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu... |
ORPHA:1830 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Lactic acidosis, Aminoaciduria, Ketonuria |
OMIM:614520 |
Riboflavin Transporter Deficiency |
|
Hypertension |
ORPHA:97229 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:249 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Stage 5 chr... |
OMIM:216360 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blo... |
ORPHA:90041 |
Liver Disease, Severe Congenital |
|
Abnormal left ventricular function, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrat... |
OMIM:619991 |
Nephroblastoma |
|
Hematuria, Hypertension |
ORPHA:654 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Jaundice, E... |
OMIM:256810 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Hypomethioninemia, Hypertension, Hyperhomocystinemia |
ORPHA:2169 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Diabetes mellitus, Lactic acidosis, Proximal tubulopathy, Hypertrophic ... |
ORPHA:2609 |
Aicardi-Goutieres Syndrome 9 |
|
Renal insufficiency, Pericarditis, Proteinuria, Portal hypertension, Stage 5 chronic kidney disea... |
OMIM:619487 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Episodic metabolic acidosis, Ethylmalonic aciduria |
OMIM:201470 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Ectopic kidney, Abnormality of the ureter, Hypertensio... |
ORPHA:3027 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Elevated lactate:pyruvate ratio, Hypospadias, Concentric hypertro... |
OMIM:252010 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension |
ORPHA:110 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Congestive heart failure, Hypertension, Hyperuricemia, Hypertrophic cardiom... |
ORPHA:79083 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Congestive he... |
OMIM:203800 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... |
OMIM:603903 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin... |
ORPHA:90068 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del... |
OMIM:176000 |
Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Cardiomyopathy |
OMIM:102200 |
Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Renal insufficiency, Tachycardia, Urinary incontinence, Dysuria, Porphy... |
ORPHA:79276 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ischemic attack,... |
ORPHA:183 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Biotinidase Deficiency |
|
Organic aciduria, Decreased circulating biotinidase concentration, Hyperammonemia, Metabolic keto... |
OMIM:253260 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Lactic acidosis, Cardiomyopathy, Increased serum lactate, Abnormal circulating enzyme concentrati... |
ORPHA:572798 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated gamma-glu... |
OMIM:619534 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular system physiology, Cardiomyopathy, Hyp... |
ORPHA:79086 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote... |
ORPHA:91139 |
Nephronophthisis-Like Nephropathy 1 |
|
Hypertension, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613159 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis |
ORPHA:494424 |
Familial Dysautonomia |
|
Hyponatremia, Renal insufficiency, Tachycardia, Orthostatic hypotension, Hypertension |
ORPHA:1764 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Transient ischemic attack, Stage 5 chronic kidney disease, Foca... |
OMIM:242900 |
Overlap Myositis |
|
Elevated circulating creatine kinase concentration, Raynaud phenomenon, Hypertension, Pulmonary a... |
ORPHA:206572 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Senior-Boichis Syndrome |
|
Portal hypertension, Chronic kidney disease, Renal hypoplasia, Stage 5 chronic kidney disease, Hy... |
ORPHA:84081 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Cardiomyopathy, Aminoaciduria, Lactic acidosis |
OMIM:616084 |
Gaucher Disease, Type I |
|
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... |
OMIM:230800 |
Paroxysmal Hemicrania |
|
Hypertension |
ORPHA:157835 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Proteinuria |
OMIM:191830 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension, Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Persistence of hemoglobin F, Ventricular septal defect |
OMIM:619769 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Myocardial infarction, P... |
ORPHA:447 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone exce... |
ORPHA:100079 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Acute Interstitial Pneumonia |
|
Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... |
ORPHA:79126 |
Monosomy 18P |
|
Hypertension |
ORPHA:1598 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613320 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis |
ORPHA:255138 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Renal insufficiency, Proteinuria, Angina pector... |
ORPHA:324 |
Renal Agenesis |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, Hypertension |
ORPHA:411709 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Proximal Spinal Muscular Atrophy |
|
Metabolic acidosis, Bradycardia |
ORPHA:70 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Chronic kidney disease, Increased LDL cholesterol concen... |
ORPHA:330015 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Acidosis, Jaundice, Hepatitis,... |
ORPHA:90062 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia |
ORPHA:525731 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Renal cyst |
OMIM:614424 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension |
OMIM:617763 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage |
OMIM:300845 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure, Hypertension, Glycosuria |
OMIM:617253 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persis... |
OMIM:260400 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Lactic acidosis, Increased serum lactate |
OMIM:617186 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hypertensio... |
OMIM:301050 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Chronic kidney disease, Myocardial infarction |
OMIM:208060 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar... |
ORPHA:220393 |
Xfe Progeroid Syndrome |
|
Hypertension, Renal insufficiency, Hypoalbuminemia, Proteinuria |
OMIM:610965 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Increased serum lactate, Shortened PR interval |
OMIM:614947 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Renal tubular acidosis, Metabolic acidosis |
OMIM:619575 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Ureteral stenosis, Proteinuria, Recurrent intra... |
ORPHA:900 |
Alport Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, ... |
ORPHA:63 |
Alagille Syndrome |
|
Telangiectasia of the skin, Nephrotic syndrome, Abnormality of the ureter, Hypertension |
ORPHA:52 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Biotinidase Deficiency |
|
Organic aciduria, Decreased circulating biotinidase concentration, Hyperammonemia, Metabolic keto... |
ORPHA:79241 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Hypertension, Hyperphosphatemia, Hypocalcemia, Low urinary cyc... |
ORPHA:79443 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Cerebral vasculitis, Membranoproliferative glomerulon... |
ORPHA:48435 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Ischemic stroke, Abnormal circulat... |
ORPHA:542643 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Primary Progressive Freezing Gait |
|
Hypertension, Urinary incontinence |
ORPHA:75567 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Hypertension, M... |
OMIM:220111 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Lactic acidosis, Elevated circulating thymidine concentration, Elevated circulating deoxyuridine ... |
OMIM:603041 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Transient hyperphenylalaninemia |
ORPHA:98808 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg... |
ORPHA:363618 |
Werner Syndrome |
|
Hypertension, Telangiectasia of the skin, Congestive heart failure, Myocardial infarction |
ORPHA:902 |
Spondyloenchondrodysplasia |
|
Proteinuria, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hematuria, Hypertension |
ORPHA:1855 |
Cockayne Syndrome Type 1 |
|
Hypertension, Renal insufficiency, Proteinuria, Increased blood urea nitrogen |
ORPHA:90321 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Hypertension |
ORPHA:69663 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Renal insufficiency, Portal hypertension, Oliguria, St... |
ORPHA:731 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Wagro Syndrome |
|
Hypertension, Proteinuria |
OMIM:612469 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Atrioventricular block |
ORPHA:371428 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul... |
ORPHA:892 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Urinary bladder sphincter dysfunction, Hypertension, Hypotension |
ORPHA:93256 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per... |
OMIM:301040 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... |
OMIM:609049 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... |
ORPHA:139417 |
Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Acidosis, Congestive heart failure, Dilated c... |
OMIM:242840 |
Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Nephr... |
ORPHA:653 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias, Hypertensive crisis |
ORPHA:1358 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the... |
OMIM:208050 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... |
ORPHA:91387 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension |
ORPHA:449291 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre... |
ORPHA:391665 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Elevated urinary catecholamine level, Palpitations, Hypertension associated with phe... |
OMIM:115310 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:99889 |
Hurler Syndrome |
|
Cardiomyopathy, Mucopolysacchariduria, Hypertension, Angina pectoris |
ORPHA:93473 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension |
OMIM:151660 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension |
ORPHA:1555 |
Alkaptonuria |
|
Hypertension, Aminoaciduria, Nephrolithiasis, Myocardial infarction |
ORPHA:56 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur |
ORPHA:402075 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Portal hypertension, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, V... |
OMIM:615688 |
Nestor-Guillermo Progeria Syndrome |
|
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... |
OMIM:614008 |
Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Increased circulating ferritin concentration, Vasculitis, Hematochezia, Nephrotic sy... |
OMIM:615846 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Hypospadias |
OMIM:123790 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension |
OMIM:616914 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Aorta Coarctation |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Multiple renal cysts |
OMIM:193300 |
Scalp-Ear-Nipple Syndrome |
|
Duplication of renal pelvis, Ureteral duplication, Hypertension, Pyelonephritis |
ORPHA:2036 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Ren... |
OMIM:270400 |
Alexander Disease |
|
Hypotension, Hypertension, Sudden cardiac death |
ORPHA:58 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension, Hyperuricemia |
ORPHA:2769 |
Hardikar Syndrome |
|
Renal insufficiency, Hydroureter, Portal hypertension, Hematemesis, Pyelonephritis, Hypertension,... |
OMIM:301068 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Myhre Syndrome |
|
Abnormal penis morphology, Epispadias, Hypospadias, Hypertension |
ORPHA:2588 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613834 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Hypertension, Chronic kidney disease, Hydronephrosis |
OMIM:616580 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... |
OMIM:181270 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hypertension, Nephronophthisis,... |
OMIM:266920 |
Hallermann-Streiff Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Bardet-Biedl Syndrome 1 |
|
Hypertension, Micropenis |
OMIM:209900 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypertension, Mitral regurgitation, Hypospadias |
OMIM:611962 |
Systemic Lupus Erythematosus |
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Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension |
ORPHA:536 |
Williams Syndrome |
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Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, N... |
ORPHA:904 |
Cranioectodermal Dysplasia 2 |
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Hypertension, Renal insufficiency, Renal cyst, Hyperbilirubinemia |
OMIM:613610 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Hypospadias, Unilateral renal agenesis, Hypertension, Vesicoureteral reflux, Micropenis |
ORPHA:95699 |
Tuberous Sclerosis Complex |
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Renal insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Renal cyst, Hyperten... |
ORPHA:805 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis |
ORPHA:2750 |
Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction |
OMIM:602535 |
Williams-Beuren Syndrome |
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Renal insufficiency, Hypercalcemia, Portal hypertension, Urethral stenosis, Renal hypoplasia, Hyp... |
OMIM:194050 |
Prader-Willi Syndrome |
|
Hypertension |
ORPHA:739 |
Orofaciodigital Syndrome I |
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Hypertension, Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula, Neonatal hyperbilirubinemia |
OMIM:300896 |
Cockayne Syndrome B |
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Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis |
OMIM:133540 |
Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis |
OMIM:216400 |
Carney Complex |
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Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... |
ORPHA:1359 |
Xq21 Microdeletion Syndrome |
|
Hypertension, Renal artery stenosis |
ORPHA:1435 |
Generalized Arterial Calcification Of Infancy |
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Hyperphosphaturia, Transient ischemic attack, Left ventricular systolic dysfunction, Retinal hemo... |
ORPHA:51608 |
Lipodystrophy, Familial Partial, Type 7 |
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Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Hypertension, Pulmonary arterial hyperte... |
OMIM:606721 |
Mucopolysaccharidosis Type 2, Severe Form |
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Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... |
ORPHA:217085 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypospadias, Renal hypoplasia, Multiple renal cysts, Hypocalcemia, P... |
ORPHA:567 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop... |
ORPHA:217093 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Transient ischemic attack, Hypospadias, Cystocele, Renovascular hyper... |
ORPHA:286 |
Hutchinson-Gilford Progeria Syndrome |
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Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... |
ORPHA:740 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Renal cyst, Hypertension, Polycystic kidney dysplasia, Hyperbilirubinemia, Micr... |
OMIM:210710 |
Blau Syndrome |
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Hypertension, Pericarditis |
OMIM:186580 |
Acromegaly |
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Dysuria, Wide penis, Long penis, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
ORPHA:963 |
Atypical Werner Syndrome |
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Hypertriglyceridemia, Telangiectasia of the skin, Congestive heart failure, Hypertension, Glycosu... |
ORPHA:79474 |
Yunis-Varon Syndrome |
|
Hypospadias, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Pulm... |
ORPHA:3472 |
Neurofibromatosis, Type I |
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Hypertension, Renal artery stenosis |
OMIM:162200 |
Blau Syndrome |
|
Pericarditis, Stage 5 chronic kidney disease, Large vessel vasculitis, Hypertension, Pulmonary ar... |
ORPHA:90340 |
Myhre Syndrome |
|
Hypertension, Aortic valve stenosis |
OMIM:139210 |
Mucopolysaccharidosis Type 2 |
|
Cardiomyopathy, Arrhythmia, Hypertension |
ORPHA:580 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, High urinary gonadotropin level, Ectopic kidney, Myocardial infarction, Ho... |
ORPHA:99413 |
Mosaic Monosomy X |
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Prolonged QT interval, High urinary gonadotropin level, Ectopic kidney, Myocardial infarction, Ho... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, High urinary gonadotropin level, Ectopic kidney, Myocardial infarction, Ho... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, High urinary gonadotropin level, Ectopic kidney, Myocardial infarction, Ho... |
ORPHA:881 |
Somatomammotropinoma |
|
Hypertension, Mitral regurgitation, Dysuria, Hypertrophic cardiomyopathy |
ORPHA:314769 |
Adams-Oliver Syndrome 1 |
|
Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:100300 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Renovascular hypertension, Hypertension, Renal artery stenosis, Pulmo... |
ORPHA:97685 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesis, Hypertension, Corneal neova... |
OMIM:308205 |
Neurofibromatosis Type 1 |
|
Hypertension |
ORPHA:636 |
Keutel Syndrome |
|
Hypertension, Pulmonic stenosis |
OMIM:245150 |
Alström Syndrome |
|
Hypertriglyceridemia, Detrusor sphincter dyssynergia, Dysuria, Glomerulonephritis, Urinary incont... |
ORPHA:64 |