| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Isolated Anencephaly/Exencephaly |
|
Primary adrenal insufficiency |
ORPHA:1048 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency |
OMIM:619025 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Adrenal insufficiency, Pancreatitis |
OMIM:619386 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| 8P23.1 Duplication Syndrome |
|
Adrenal insufficiency |
ORPHA:251076 |
| Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Adrenal insufficiency |
OMIM:618238 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia |
ORPHA:199299 |
| Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... |
OMIM:617872 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Triple A Syndrome |
|
Anterior hypopituitarism, Adrenal insufficiency |
ORPHA:869 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty |
OMIM:612079 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... |
OMIM:240300 |
| Whipple Disease |
|
Hyponatremia |
ORPHA:3452 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| X-Linked Adrenoleukodystrophy |
|
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level |
ORPHA:43 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... |
ORPHA:90793 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ... |
OMIM:231550 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
| Immunodeficiency 54 |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:609981 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
| Addison Disease |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:85138 |
| Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
| Wolman Disease |
|
Adrenal insufficiency, Adrenal calcification |
ORPHA:75233 |
| East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia |
ORPHA:293978 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia |
OMIM:611590 |
| Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Shigellosis |
|
Hyponatremia, Abnormal blood ion concentration |
ORPHA:810 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Flynn-Aird Syndrome |
|
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus |
ORPHA:2047 |
| Aa Amyloidosis |
|
Hypothyroidism, Adrenal insufficiency |
ORPHA:85445 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
| Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... |
OMIM:219800 |
| Reni Syndrome |
|
Hypogonadism, Hypothyroidism, Adrenal insufficiency |
OMIM:617575 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency |
ORPHA:300298 |
| Cystinosis |
|
Hypokalemia, Hypophosphatemia |
ORPHA:213 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Neonatal Adrenoleukodystrophy |
|
Primary adrenal insufficiency |
ORPHA:44 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
| Peroxisome Biogenesis Disorder 2B |
|
Adrenal insufficiency |
OMIM:202370 |
| Holoprosencephaly |
|
Hyponatremia |
ORPHA:2162 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level |
OMIM:607364 |
| Cholesteryl Ester Storage Disease |
|
Death in infancy, Adrenal insufficiency, Adrenal calcification |
OMIM:278000 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Hypothyroidism |
ORPHA:231222 |
| Xp21 Deletion Syndrome |
|
Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency |
ORPHA:261476 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... |
OMIM:269200 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
| Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... |
OMIM:615577 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
| Adrenomyodystrophy |
|
Primary adrenal insufficiency |
ORPHA:977 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
| Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
| Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency |
OMIM:530000 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... |
ORPHA:231226 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98754 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia |
ORPHA:369929 |
| Distal Deletion 13Q |
|
Primary adrenal insufficiency |
ORPHA:1590 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98793 |
| Myasthenia Gravis |
|
Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis |
ORPHA:589 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177901 |
| Adrenomyeloneuropathy |
|
Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr... |
ORPHA:139399 |
| Adrenoleukodystrophy |
|
Hypogonadism, Primary adrenal insufficiency |
OMIM:300100 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... |
ORPHA:231214 |
| Carney Triad |
|
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma |
ORPHA:139411 |
| Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff... |
ORPHA:227982 |
| Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
| Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia |
OMIM:219090 |
| Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... |
ORPHA:2905 |
| Zellweger Syndrome |
|
Death in infancy, Primary adrenal insufficiency |
ORPHA:912 |
| Osteootohepatoenteric Syndrome |
|
Hypokalemia, Increased serum bile acid concentration |
OMIM:619377 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
| Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Anterior pitu... |
ORPHA:227990 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
| Adrenocortical Carcinoma |
|
Hypokalemia |
ORPHA:1501 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Adrenal insufficiency, Hypohidrosis |
OMIM:615510 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... |
ORPHA:251510 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency |
ORPHA:139396 |
| Peroxisome Biogenesis Disorder 4B |
|
Adrenal insufficiency |
OMIM:614863 |
| Tbck-Related Intellectual Disability Syndrome |
|
Central adrenal insufficiency, Hyperthyroidism, Hypothyroidism, Decreased response to growth horm... |
ORPHA:488632 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Adrenal insufficiency, Chronic pancreatitis |
OMIM:307030 |
| Rabson-Mendenhall Syndrome |
|
Hypokalemia, Increased C-peptide level |
ORPHA:769 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test |
OMIM:616007 |
| Pearson Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Adr... |
ORPHA:699 |
| Nelson Syndrome |
|
Hypokalemia |
ORPHA:199244 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
| Scorpion Envenomation |
|
Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase... |
ORPHA:466677 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
| Vipoma |
|
Hypokalemia, Hypercalcemia |
ORPHA:97282 |
| Gitelman Syndrome |
|
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
| D-Bifunctional Protein Deficiency |
|
Primary adrenal insufficiency |
OMIM:261515 |
| Distal Renal Tubular Acidosis |
|
Hypokalemia |
ORPHA:18 |
| Crimean-Congo Hemorrhagic Fever |
|
Acute pancreatitis, Orchitis, Hyperhidrosis, Adrenal insufficiency, Inappropriate antidiuretic ho... |
ORPHA:99827 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... |
ORPHA:363958 |
| Proximal Renal Tubular Acidosis |
|
Hypokalemia, Bicarbonaturia |
ORPHA:47159 |
| Leprechaunism |
|
Hypokalemia, Increased circulating renin level |
ORPHA:508 |
| Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Precocious puberty, Adrenocorticotropic hormone deficiency, Primary adrenal i... |
ORPHA:672 |
| Microphthalmia, Syndromic 2 |
|
Hypothyroidism, Adrenal insufficiency |
OMIM:300166 |
| Acute Liver Failure |
|
Adrenal insufficiency |
ORPHA:90062 |
| Orofaciodigital Syndrome Type 4 |
|
Primary adrenal insufficiency |
ORPHA:2753 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia |
ORPHA:286 |
