| Posttransplant Acute Limbic Encephalitis |
|
Cognitive impairment, Ataxia, Depression, Anxiety, Hyponatremia, Memory impairment |
ORPHA:163921 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Irritability |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Irritability |
OMIM:304800 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Hyponatremia |
OMIM:616949 |
| Neuroleptic Malignant Syndrome |
|
Chorea, Hyperphosphatemia, Hyperuricemia, Anxiety, Hyperkalemia, Elevated circulating creatine ki... |
ORPHA:94093 |
| Central Diabetes Insipidus |
|
Anxiety, Depression, Hyponatremia |
ORPHA:178029 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Apathy, Ataxia, Neonatal hype... |
ORPHA:3008 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Abnormal fear/anxiety-related behavior, Anxiety, Ap... |
ORPHA:100924 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, Hyperglutamine... |
OMIM:615751 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... |
OMIM:241520 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Hyperkalemic Periodic Paralysis |
|
Flexion contracture, Paresthesia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase... |
ORPHA:682 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Irritability, Ataxia, Increa... |
OMIM:267700 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anxiety, Depression, Hyponatremia |
ORPHA:83601 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Irritability, Ataxia, Increased circulating ferritin concentration, Hy... |
OMIM:603553 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Arthritis, Elevated circulating C-reactive protein concentration, Hy... |
OMIM:619381 |
| Hartsfield Syndrome |
|
Hypernatremia, Craniosynostosis |
OMIM:615465 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556037 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Osteomyelitis, Hyponatremia |
ORPHA:171876 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556030 |
| Familial Dysautonomia |
|
Recurrent fractures, Ataxia, Impaired pain sensation, Osteolysis, Hyponatremia |
ORPHA:1764 |
| Alg8-Cdg |
|
Camptodactyly, Ataxia, Hyponatremia |
ORPHA:79325 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Somatic sensory dysfunction, Anxiety, Hyponatremia |
ORPHA:79473 |
| Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Irritability |
ORPHA:173 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Whipple Disease |
|
Arthritis, Ataxia, Depression, Hyponatremia |
ORPHA:3452 |
| Congenital Isolated Acth Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:199296 |
| Acute Intermittent Porphyria |
|
Somatic sensory dysfunction, Depression, Anxiety, Hyponatremia, Mental deterioration, Memory impa... |
ORPHA:79276 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Late-Onset Isolated Acth Deficiency |
|
Generalized bone demineralization, Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia |
OMIM:613845 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Osteopenia, Hyponatremia, Hypocalcemia |
OMIM:617913 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79273 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Cognitive impairment, Apathy, Ataxia, Elevated circulating creatine kinase concentration, Hyperam... |
OMIM:610505 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Mirage Syndrome |
|
Radial club hand, Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Legionnaires Disease |
|
Ataxia, Hyponatremia |
ORPHA:549 |
| Alg12-Cdg |
|
Abnormal bone ossification, Camptodactyly, Hyponatremia, Hypocholesterolemia, Hypoalbuminemia |
ORPHA:79324 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia |
ORPHA:1667 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:168558 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:289548 |
| Japanese Encephalitis |
|
Stiff neck, Cognitive impairment, Elbow flexion contracture, Choreoathetosis, Hyponatremia |
ORPHA:79139 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine conce... |
ORPHA:90038 |
| Chédiak-Higashi Syndrome |
|
Somatic sensory dysfunction, Cognitive impairment, Dementia, Ataxia, Increased circulating ferrit... |
ORPHA:167 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia |
ORPHA:97362 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Rickets, ... |
OMIM:219800 |
| Addison Disease |
|
Generalized bone demineralization, Hyperuricemia, Hyperkalemia, Increased circulating renin level... |
ORPHA:85138 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Anxiety, Self-injurious behavior, Osteomalacia, Arthritis, Hypokalemia, Hypophospha... |
ORPHA:534 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Self-injurious behavior, Anxiety, Hyperkalemia, Emotional lability, Impaired... |
ORPHA:293987 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Emotional lability, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Increased circulating renin level, Emotional lability, Hypochloremia, Hyponatremia, ... |
ORPHA:89938 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... |
ORPHA:411634 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:90791 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:361 |
| Holoprosencephaly |
|
Chorea, Cognitive impairment, Joint hyperflexibility, Hyponatremia |
ORPHA:2162 |
| Lysosomal Acid Lipase Deficiency |
|
Cognitive impairment, Hyperkalemia, Psychomotor deterioration, Hypercholesterolemia, Hyponatremia... |
ORPHA:275761 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia |
ORPHA:95409 |
| Shigellosis |
|
Arthritis, Abnormal blood ion concentration, Hyponatremia |
ORPHA:810 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Ataxia, Hyponatremia |
OMIM:618426 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyperkalemia, Hyponatremia |
ORPHA:293978 |
| Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
| Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Inappropriate crying, J... |
OMIM:619991 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cognitive impairment, Increased serum bile acid concentration, Hyponatremia |
ORPHA:731 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Humeroradial synostosis, Joint contracture of the hand, Decreased circulating renin level, Hyperk... |
OMIM:201750 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypochloremia, Hyperkalemia, Hyponatremia |
ORPHA:90794 |
