| Hyperaldosteronism, Familial, Type Ii |
|
Hyperaldosteronism, Hypertension, Hypokalemia |
OMIM:605635 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Renal salt wasting,... |
OMIM:264350 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... |
OMIM:610600 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia, Failure to thrive |
OMIM:143860 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism |
OMIM:614495 |
| Liddle Syndrome |
|
Nephropathy, Cerebral ischemia, Renal insufficiency, Hypokalemia, Arrhythmia, Constipation, Hyper... |
ORPHA:526 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Failure to thrive, Abnormal circulating aldosterone, Increased circulating AC... |
OMIM:614736 |
| Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati... |
ORPHA:404 |
| Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventricular hypertr... |
ORPHA:251274 |
| Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, E... |
ORPHA:556037 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil... |
OMIM:613090 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... |
ORPHA:2779 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a... |
OMIM:177735 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism |
OMIM:614496 |
| Liddle Syndrome 1 |
|
Renal insufficiency, Decreased circulating renin level, Hypokalemia, Decreased circulating aldost... |
OMIM:177200 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyp... |
OMIM:203400 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract... |
OMIM:620152 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
| Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Metaboli... |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Metaboli... |
OMIM:618126 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger |
OMIM:259270 |
| Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, E... |
ORPHA:556030 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary... |
ORPHA:231625 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
| Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Palpitations, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating ... |
ORPHA:231580 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... |
OMIM:615474 |
| Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Decreased circulating renin level, Hypokalemia, Metabolic alkalosis, Nausea, Hypertens... |
ORPHA:231632 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Vomiting, Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Hypokalemic alkalo... |
OMIM:241150 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis... |
ORPHA:403 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adr... |
ORPHA:369929 |
| Colchicine Poisoning |
|
Hypotension, Diarrhea, Vomiting, Oliguria, Cardiogenic shock, Congestive heart failure, Hypomagne... |
ORPHA:31824 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Alkalosis, Secretory diarrhea, Hyperaldosteronism, Hypokalemia, Hyponatremia, Metabolic alkalosis... |
OMIM:214700 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Metaboli... |
OMIM:218030 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... |
OMIM:300200 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal... |
OMIM:613677 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... |
OMIM:300971 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Renal insufficiency, Abnormality of circulating cortisol level, Decreased circu... |
ORPHA:320 |
| Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level |
OMIM:619406 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia... |
OMIM:300539 |
| Familial Hypoaldosteronism |
|
Hypotension, Diarrhea, Adrenal insufficiency, Increased circulating renin level, Metabolic acidos... |
ORPHA:427 |
| Hyperaldosteronism, Familial, Type I |
|
Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
OMIM:103900 |
| Central Diabetes Insipidus |
|
Failure to thrive, Hyponatremia, Weight loss, Nocturia, Diabetes insipidus |
ORPHA:178029 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil... |
OMIM:602522 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Bicarbonate-wasting renal tubular acidosis, Hyperamylasemia, Metabolic acidosis, Hypokalemia, Hyp... |
OMIM:604278 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Hype... |
OMIM:611489 |
| Coxopodopatellar Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal epiphysis morphology, Aplasia/Hyp... |
ORPHA:1509 |
| East Syndrome |
|
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste... |
ORPHA:199343 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... |
OMIM:607364 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... |
ORPHA:89938 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Adrenal insufficiency, Hyperkalemia, Adrenal hypoplasia |
OMIM:240200 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and... |
OMIM:615962 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Hypokalemia, Increased circulating T4 concentration, Increased circulating free T4 concen... |
OMIM:613239 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... |
ORPHA:101016 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
| Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism, Hyperkalemia, Hypertension, Hyperchloremic acidosis |
OMIM:145260 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Abnormal circulating aldosterone, Glucocortocoid-insensitive primar... |
ORPHA:171876 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Vomiting, Distal renal tubular acidosis, Metabolic acidosis, Hypokalemia, Hyper... |
OMIM:602722 |
| Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Genu valgum, Acetabular dysplasia, Coxa valga, Hip dysplasia |
OMIM:613618 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia,... |
OMIM:613845 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... |
OMIM:601678 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... |
ORPHA:97362 |
| Cardiomyopathy, Familial Hypertrophic, 30, Atrial |
|
Atrial flutter, Reduced left ventricular ejection fraction, Hypertension, Left atrial enlargement... |
OMIM:620734 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... |
OMIM:601198 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... |
OMIM:604765 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... |
ORPHA:361 |
| Hyperaldosteronism, Familial, Type Iv |
|
Hyperaldosteronism, Elevated aldosterone:renin ratio |
OMIM:617027 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemic alkalosis, Adrenogenital syndrome, Hypertension, Adrenal hyperplasia |
OMIM:202110 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Metabolic acidosis, Hypokale... |
OMIM:611590 |
| Hereditary Coproporphyria |
|
Nephropathy, Dark urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concen... |
ORPHA:79273 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, P... |
OMIM:612780 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, A... |
ORPHA:411634 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction, Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Abnormal urine sebacic acid concentration, Metabolic acidosis, Low plasma citrulline, Hypoornithi... |
OMIM:615751 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insuffi... |
ORPHA:199296 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... |
ORPHA:90791 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... |
OMIM:613095 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Palpitations, Hypokalemia, Hyperthyroidism, Tachycardia |
OMIM:188580 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Acidosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hyperten... |
OMIM:137950 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... |
ORPHA:91354 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... |
OMIM:250460 |
| Beukes Hip Dysplasia |
|
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... |
OMIM:142669 |
| Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... |
OMIM:179800 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Projectile vomiting, Hypochloremic metabolic alkalosis |
OMIM:179010 |
| Polycystic Kidney Disease 7 |
|
Hypertension, Multiple renal cysts, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:620056 |
| Acute Adrenal Insufficiency |
|
Diarrhea, Renal salt wasting, Hyperkalemia, Androgen insufficiency, Primary adrenal insufficiency... |
ORPHA:95409 |
| Distal Arthrogryposis Type 1 |
|
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... |
ORPHA:1146 |
| Microvillus Inclusion Disease |
|
Nephrocalcinosis, Diarrhea, Abnormal renal physiology, Metabolic acidosis, Hypovolemia |
ORPHA:2290 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Alkalosis, Pituitary adenoma, Increased circulating ACTH level, Nephrolithiasis, Hypokalemia, Hyp... |
OMIM:219090 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Const... |
ORPHA:223 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Small for... |
OMIM:241200 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
| Nephronophthisis 2 |
|
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H... |
ORPHA:35710 |
| Cholera |
|
Hypovolemic shock, Acute kidney injury, Diarrhea, Vomiting, Hypotension, Acidosis, Abnormal blood... |
ORPHA:173 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertension, Hypertriglyceri... |
OMIM:610947 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... |
OMIM:201810 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe... |
ORPHA:90795 |
| Gitelman Syndrome |
|
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Vomiting, Hypomagnesemia, Palpitat... |
OMIM:263800 |
| Mercury Poisoning |
|
Hypotension, Acute kidney injury, Hypokalemia, Episodic vomiting, Nausea, Tachycardia, Hypertension |
ORPHA:330021 |
| Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria... |
OMIM:145600 |
| Hyperkalemic Periodic Paralysis |
|
Death in early adulthood, Death in infancy, Elevated circulating creatine kinase concentration, H... |
ORPHA:682 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc... |
ORPHA:73224 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Vomiting, Renal insufficiency, Portal hyper... |
ORPHA:213 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
| Panhypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... |
OMIM:161900 |
| N-Acetylglutamate Synthase Deficiency |
|
Alkalosis, Vomiting, Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Low plasma citrulline,... |
OMIM:237310 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... |
ORPHA:90793 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... |
OMIM:618314 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Gitelman Syndrome |
|
Diarrhea, Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Ventricular fibri... |
ORPHA:358 |
| Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... |
ORPHA:289548 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Lactic acidosis, Left ventricular hypertrophy, Arrhythmia, Episodic vom... |
OMIM:540000 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... |
ORPHA:168558 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Weight loss, Renal salt wasting, Hyperkalemia, Abnormal circulating dehydro... |
ORPHA:90794 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Bow... |
ORPHA:1802 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Vomiting, Respiratory alkalosis, Hyperammonemia, Low plasma citrulline, Hypoargininemia, Episodic... |
OMIM:237300 |
| Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Decreased HDL cholesterol concentration, Increased LDL cholesterol conc... |
OMIM:615703 |
| Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiatio... |
OMIM:617610 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal... |
ORPHA:90790 |
| Coproporphyria, Hereditary |
|
Diarrhea, Vomiting, Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Spl... |
OMIM:121300 |
| Addison Disease |
|
Adrenal calcification, Weight loss, Hypoparathyroidism, Renal salt wasting, Hyperkalemia, Thymoma... |
ORPHA:85138 |
| Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, Central hy... |
ORPHA:1667 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Weight loss, Hypophosphatemia, Aminoaci... |
OMIM:219800 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... |
OMIM:614473 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Failure to thrive, Death in childhood, Hyponatremia, Patent urachus, Small for gestational age |
OMIM:618252 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Megacystis, Nephrogenic diabetes insipidus, Polyuria, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Megacystis, Polyuria, Diabetes insipidus, Hypernatremia |
OMIM:304800 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hashimoto thyroiditis, Hypothyroidism, Hyponatremia, Goiter |
ORPHA:83601 |
| Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Hypertension, Splenomegaly |
OMIM:602079 |
| Citrullinemia Type I |
|
Vomiting, Gastroesophageal reflux, Respiratory alkalosis, Hyperammonemia, Elevated plasma citrulline |
ORPHA:247525 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hypertriglyceridemia, Hepatomegaly, Hypertension, Increased C-peptid... |
OMIM:615238 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concentration, Hy... |
ORPHA:100924 |
| Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Pituitary adenoma, Failure to thrive, Graves disease, Adrenocorticotrop... |
ORPHA:199299 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... |
OMIM:618183 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased circulating lactate concentration, Congestive heart failure, Hypertrophic cardiomyopath... |
OMIM:614096 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia |
OMIM:154020 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an... |
OMIM:202010 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Hypertension |
OMIM:189800 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Diarrhea, Vomiting, Glycosuria, Hypernatriuria, Low-molecular-we... |
ORPHA:47159 |
| Scorpion Envenomation |
|
Diarrhea, Premature ventricular contraction, Arrhythmia, Tachycardia, Acute kidney injury, Bundle... |
ORPHA:466677 |
| Lysosomal Acid Lipase Deficiency |
|
Acidosis, Hypotension, Diarrhea, Vomiting, Hypernatriuria, Abnormal urine potassium concentration... |
ORPHA:275761 |
| Mirage Syndrome |
|
Microphallus, Recurrent urinary tract infections, Adrenal insufficiency, Decreased body weight, H... |
OMIM:617053 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... |
OMIM:267700 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hematochezia, Vomiting, Diarrhea, Xerostomia, Hypomagnesemia, Hypocalcemia, Hypokalemia |
OMIM:175500 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
OMIM:608688 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... |
ORPHA:99845 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Nail-Patella-Like Renal Disease |
|
Proteinuria, Microscopic hematuria, Renal insufficiency, Hypertension |
ORPHA:2613 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... |
ORPHA:54370 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal artery stenosis... |
OMIM:617913 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... |
OMIM:613237 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons... |
OMIM:603233 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypertension, Nephrotic syndrom... |
OMIM:601894 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Acidosis, Ketonuria, Glycosuria, Beta 2-microglobulinuri... |
OMIM:227810 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension |
OMIM:607832 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
| Porphyria Variegata |
|
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... |
ORPHA:79473 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Hydronephr... |
OMIM:615926 |
| Snakebite Envenomation |
|
Hypopituitarism, Acute kidney injury, Hyponatremia |
ORPHA:449285 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Obesity, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C... |
ORPHA:247353 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Acidosis, Vomiting, Glycosuria, Low-molecular-weight proteinuria, Abnormality of t... |
ORPHA:411629 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive |
OMIM:620157 |
| Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Elevated diastolic blood pressure, Increased circulating renin ... |
ORPHA:90041 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine concentratio... |
OMIM:620366 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hypertension |
OMIM:613944 |
| Methanol Poisoning |
|
Type I diabetes mellitus, Vomiting, Diarrhea, Permanent atrial fibrillation, Inflammatory arterio... |
ORPHA:31825 |
| Cocaine Intoxication |
|
Hematuria, Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Acute kidney i... |
ORPHA:90068 |
| Nelson Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... |
ORPHA:199244 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Reduced rena... |
OMIM:603278 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Transient ischemic attack, Hypertension |
OMIM:616779 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Hypertension |
ORPHA:757 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... |
OMIM:616963 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... |
ORPHA:1345 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase, Adrenocortical adenoma |
ORPHA:681 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Hematuria, Stage 5 chronic kidney disease, Hypertension |
OMIM:616818 |
| Pearson Syndrome |
|
Hypophosphatemia, Hypoparathyroidism, Hepatomegaly, Dysphagia, Elevated lactate:pyruvate ratio, I... |
ORPHA:699 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertension, Hypertriglyceridemia |
ORPHA:71529 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Graves disease, Urinary retention, Second degree atrioventricular block, Hy... |
ORPHA:79102 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Increased circulating lactate concentration, Metabolic alkalo... |
OMIM:616239 |
| Ovarian Hyperstimulation Syndrome |
|
Enlarged polycystic ovaries, Increased serum testosterone level, Increased circulating gonadotrop... |
ORPHA:64739 |
| Citrullinemia, Classic |
|
Vomiting, Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininem... |
OMIM:215700 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Diarrhea, Vomiting, Anuria, Acute colitis, Elevated circulating creatinine c... |
ORPHA:90038 |
| Lessel-Kubisch Syndrome |
|
Hypertension, Renal hypoplasia, Renal insufficiency, Hypogonadism |
OMIM:618681 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Pituitary prola... |
ORPHA:97289 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated cir... |
ORPHA:94093 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Diarrhea, Vomiting, Low-molecular-weight p... |
ORPHA:18 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Acute Intermittent Porphyria |
|
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem... |
ORPHA:79276 |
| Alg8-Cdg |
|
Hyponatremia, Small for gestational age, Failure to thrive |
ORPHA:79325 |
| Attrv30M Amyloidosis |
|
Nephropathy, Atrioventricular block, Diarrhea, Cardiomyopathy, Cardiomegaly, Arrhythmia, Constipa... |
ORPHA:85447 |
| Legionnaires Disease |
|
Renal insufficiency, Hematuria, Proteinuria, Hyponatremia, Pancreatitis |
ORPHA:549 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro... |
ORPHA:293978 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
| Pituitary Apoplexy |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:95613 |
| Rabson-Mendenhall Syndrome |
|
Precocious puberty, Nephrocalcinosis, Long penis, Cardiomyopathy, Insulin-resistant diabetes mell... |
ORPHA:769 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Renal insufficiency,... |
ORPHA:534 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Renal insufficiency, Proteinuria, Hypertension, Cerebral hemorrhage, Nephrotic s... |
ORPHA:84090 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary adenoma, Increased circulating prolactin concentration, Cardiomyopathy, Pituitary prola... |
OMIM:102200 |
| Helix Syndrome |
|
Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolithi... |
OMIM:617671 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatin... |
ORPHA:439232 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Large for gestational... |
ORPHA:79644 |
| Marburg Hemorrhagic Fever |
|
Diarrhea, Tachycardia, Shock, Elevated circulating creatinine concentration, Renal insufficiency,... |
ORPHA:99826 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... |
OMIM:603553 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... |
ORPHA:3337 |
| Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Small for gestational age, Neonatal death |
OMIM:300076 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... |
ORPHA:91347 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Central hypothyroidism, Failure to thrive, Hyperaldosteronism, Hype... |
ORPHA:508 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Increased circulating lactate concentration, Hypertrophic cardiomyopathy... |
OMIM:619051 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome, Hypertension |
OMIM:105200 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla... |
ORPHA:2370 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Lactic acidosis, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620135 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia, Hypertension |
ORPHA:2111 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Vomiting, Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Increased circula... |
OMIM:207900 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Dilated cardiomyopathy, Secretory diarrhea, Third degree atrioventricular blo... |
OMIM:619573 |
| Birk-Landau-Perez Syndrome |
|
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in... |
OMIM:617595 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hypertension |
OMIM:161950 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hypertriglyceridemia, Abnormal circulating hormone concentration, Hypertension,... |
ORPHA:280356 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Renal insufficiency, Hyperuricemia, Arrhythmia, Hypertension |
ORPHA:3222 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hyperinsulinemia, Hypertension, Diabetes mellitus |
ORPHA:79084 |
| Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera... |
OMIM:614702 |
| Ethylene Glycol Poisoning |
|
Hypotension, Vomiting, Elevated serum anion gap, Congestive heart failure, Shock, Lactic acidosis... |
ORPHA:31826 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... |
ORPHA:91387 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... |
ORPHA:66529 |
| Glutaric Aciduria Iii |
|
Glutaric aciduria, Diarrhea, Vomiting, Goiter, Hyperthyroidism, Hypertension |
OMIM:231690 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Increased circulating lactate concentration, Increased total bilirubin, Metaboli... |
OMIM:618528 |
| Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Obesity, Hyponatremia |
OMIM:620155 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Colitis, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Vomiting, Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma ci... |
OMIM:311250 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Death in childhood, Death in infancy, Hypokalemia, Hyponatremia |
OMIM:618426 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased circulating lactate concentration, Dilated cardiomyopathy, Congestive heart failure, Hy... |
ORPHA:1349 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficiency, Proteinu... |
ORPHA:567544 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
| Acute Liver Failure |
|
Acidosis, Gastrointestinal hemorrhage, Vomiting, Acute kidney injury, Diarrhea, Hypotension, Alka... |
ORPHA:90062 |
| Whipple Disease |
|
Hyponatremia, Cachexia, Hypothyroidism |
ORPHA:3452 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vomiting, Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemi... |
ORPHA:90065 |
| Infant Botulism |
|
Hyponatremia, Xerostomia |
ORPHA:178478 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Elevated urinary dopamine level, Elevated urinary norepinephrine ... |
ORPHA:94080 |
| Familial Dysautonomia |
|
Renal insufficiency, Hyponatremia, Glomerulopathy, Hypohidrosis, Hyperhidrosis, Abnormality of th... |
ORPHA:1764 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Abnormal tibia morphology, Abnormal hi... |
ORPHA:2639 |
| Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Hyperphosphatemia, Supraventricul... |
ORPHA:423 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hematochezia, Diarrhea, Hypokalemia |
OMIM:174900 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
| Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
| Vipoma |
|
Follicular thyroid carcinoma, Secretory diarrhea, Increased circulating cortisol level, Increased... |
ORPHA:97282 |
| Shigellosis |
|
Acute kidney injury, Urethritis, Failure to thrive in infancy, Hyponatremia, Abnormal blood ion c... |
ORPHA:810 |
| Ochoa Syndrome |
|
Urethral obstruction, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Constipation, U... |
ORPHA:2704 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased circulating lactate concentration, Second degree atrioventricular bloc... |
OMIM:617021 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Increased circulating lactate concentration, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hy... |
OMIM:619064 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... |
OMIM:171420 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Renal tubular acidosis, Proteinuria, ... |
OMIM:610205 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age |
ORPHA:391673 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Type I diabetes mellitus, Abnormal mitral valve morphology, Proteinuria, Nephrotic s... |
ORPHA:1192 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Elevated circulating creatinine concentration, Left ventricular hypertrophy, Abnorm... |
OMIM:616733 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Fourth h... |
ORPHA:57777 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Hypokalemia, Syncope, Hyperthyr... |
OMIM:170390 |
| Fabry Disease |
|
Diarrhea, Lipiduria, Vomiting, Congestive heart failure, Transient ischemic attack, Renal insuffi... |
OMIM:301500 |
| Andersen-Tawil Syndrome |
|
Hyperaldosteronism, Renal hypoplasia, Renal tubular dysfunction |
ORPHA:37553 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conce... |
OMIM:201910 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Diarrhea, Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:94086 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:608600 |
| Osteootohepatoenteric Syndrome |
|
Secretory diarrhea, Increased serum bile acid concentration, Grade II vesicoureteral reflux, Prot... |
OMIM:619377 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension |
ORPHA:3156 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Increased circulating lactate concentration, Cardiomegaly, Hyperprolinemia, Perimembranous ventri... |
OMIM:619170 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Failure to thrive, Hypernatremia, Reduced circulating growth hormone concentration |
OMIM:615508 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia, Decreas... |
OMIM:618620 |
| Alg12-Cdg |
|
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Decreased serum insulin-li... |
ORPHA:79324 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia, Hypertension |
ORPHA:90044 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Vomiting, Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentrat... |
OMIM:600649 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased urine output, Pancre... |
ORPHA:544482 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... |
OMIM:115197 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... |
OMIM:615954 |
| Potocki-Shaffer Syndrome |
|
Micropenis, Delayed puberty, Hypothyroidism, Hypertension |
ORPHA:52022 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level |
OMIM:605115 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Abnorm... |
ORPHA:99885 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Elevated urinar... |
OMIM:171400 |
| Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
| Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Short toe, Abnormal femur morphology, Bowing of the long ... |
ORPHA:429 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Ischemic stroke, Hypertension, Achalasia, Raynaud phenomenon, Dysphagia |
OMIM:615750 |
| Takayasu Arteritis |
|
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce... |
ORPHA:3287 |
| Beta-Ketothiolase Deficiency |
|
Acidosis, Hypotension, Vomiting, Diarrhea, Ketonuria, Increased circulating lactate concentration... |
ORPHA:134 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyperammonemia, Death in childhood, Death in infancy, Hyponatremia, Elevated circulating creatine... |
OMIM:610505 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Lactic acidosis, Elevated circulating creatin... |
OMIM:618838 |
| Preeclampsia |
|
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Type I diabetes me... |
ORPHA:275555 |
| Familial Cervical Artery Dissection |
|
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... |
ORPHA:36382 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Mitral regurgitation, Mitral valve prolapse, Polycystic kidney dysplasia, Hy... |
OMIM:173900 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circ... |
OMIM:255120 |
| Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Hip dislocation |
ORPHA:1508 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Short thumb, Brachydactyly, Cuboidal met... |
ORPHA:968 |
| Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Vomiting, Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic a... |
OMIM:212140 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... |
OMIM:615980 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Respiratory alkalosis, Oroticaciduria, Abnormal circulating citrulline concentration, Hyperornith... |
ORPHA:415 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... |
OMIM:232200 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Spider hemangioma, Decre... |
OMIM:232240 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone |
ORPHA:1506 |
| Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept... |
OMIM:601005 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... |
ORPHA:615 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Stage... |
ORPHA:329918 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal... |
ORPHA:85450 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperprolinemi... |
ORPHA:3008 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Raynaud phenomenon |
ORPHA:401945 |
| Sneddon Syndrome |
|
Nephropathy, Intracranial hemorrhage, Hypertension |
ORPHA:820 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Congestive heart failure, Increased cir... |
OMIM:235200 |
| Narcolepsy Type 1 |
|
Precocious puberty, Syncope, Constipation, Nocturia, Hypertension |
ORPHA:2073 |
| Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Increased circulating lactate concentration, Cardiomyopathy, Lactic acidosis, Elevated circulatin... |
OMIM:617713 |
| Holoprosencephaly |
|
Abnormality of the urinary system, Failure to thrive in infancy, Panhypopituitarism, Proteinuria,... |
ORPHA:2162 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Vomiting, Secretory diarrhea |
OMIM:616069 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Diarrhea, Hyperphosphatemia, Hematuria, Acute tubulointerstitial nephriti... |
ORPHA:340 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Hypertension, Stress urinary incon... |
ORPHA:136 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Increased circulating ferritin concentration, Proteinuria, Cardiomegaly, Cer... |
OMIM:618886 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... |
OMIM:610489 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Renal insufficiency, Hypokalem... |
ORPHA:36426 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Elevated urinary dopamine level, Elevated urinary norepinephrine ... |
ORPHA:276621 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... |
ORPHA:293987 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
| Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyp... |
OMIM:615812 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperinsulinemia, T... |
OMIM:604367 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating ferritin concentration, ... |
OMIM:614034 |
| Rhabdoid Tumor |
|
Hematuria, Hypercalcemia, Hypertension, Internal hemorrhage |
ORPHA:69077 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... |
OMIM:201750 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Urinary hesitancy, Stag... |
ORPHA:976 |
| Denys-Drash Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome, Hypertension |
ORPHA:220 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Hypophosphatemic rickets... |
OMIM:208000 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Brachydactyly, Camptodactyly o... |
ORPHA:2928 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Decreased serum estradiol, Streak ovary, Renal insufficiency,... |
ORPHA:347 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Hy... |
OMIM:123550 |
| Stiff Skin Syndrome |
|
Type II diabetes mellitus, Hypertension, Abnormal circulating lipid concentration, Nephrolithiasis |
ORPHA:2833 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... |
ORPHA:2299 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Hypertension, Splenomegaly, Cerebral hemorrhage |
OMIM:133100 |
| Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic syndrome, Conjugate... |
OMIM:269920 |
| Congenital Myopathy 8 |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hy... |
OMIM:201475 |
| Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension |
OMIM:615862 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... |
OMIM:144750 |
| Long-Olsen-Distelmaier Syndrome |
|
Increased circulating lactate concentration, Dilated cardiomyopathy, Secundum atrial septal defec... |
OMIM:620609 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Hypertension, Neoplasm of the adr... |
ORPHA:251992 |
| Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the thyroid gland, Hyperuricemia, Hypertension, Hypothyroidism, Hypercholesterolem... |
ORPHA:77296 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... |
OMIM:232220 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Polycy... |
OMIM:618061 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... |
OMIM:145981 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Ischemic stroke, D... |
ORPHA:280679 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Atrial septal defect, Micropenis, Tachycardia, Hypertension |
OMIM:613870 |
| Pheochromocytoma |
|
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... |
OMIM:171300 |
| Japanese Encephalitis |
|
Hyponatremia, Inappropriate antidiuretic hormone secretion |
ORPHA:79139 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Elevated circulating catecholamine level, Chemodectoma, Palpitations, Hypertension associated wit... |
OMIM:605373 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Polyarteritis Nodosa |
|
Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive protein concentration, Hypert... |
ORPHA:767 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Hypotension, Elevated circulating creatinin... |
OMIM:174000 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Dicarboxylic aciduria, Metabolic acidosis, Myoglobinuria, Arrhythmia, Hepatomegaly, Tubulointerst... |
ORPHA:228308 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperinsulinemia, Hypertension, Hypertriglyceridemia |
ORPHA:363400 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Reduced circulating growt... |
OMIM:300845 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Failure to thrive, Recurrent urinary tract infections, Hyperechogenic kidneys, Exo... |
OMIM:619991 |
| Sneddon Syndrome |
|
Bicuspid aortic valve, Ischemic stroke, Hypertension, Cerebral hemorrhage |
OMIM:182410 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism |
ORPHA:181 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic vomiting, Episodic hypertension, Chronic constipation |
OMIM:619483 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Porphyria, Acute Intermittent |
|
Diarrhea, Vomiting, Urinary retention, Paralytic ileus, Nausea, Hypertension, Constipation, Urina... |
OMIM:176000 |
| Hsd10 Disease, Infantile Type |
|
Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera... |
ORPHA:391428 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... |
OMIM:168000 |
