| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypernatremia, Irritability |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypernatremia, Irritability |
OMIM:304800 |
| Posttransplant Acute Limbic Encephalitis |
|
Memory impairment, Depression, Confusion, Hyponatremia, Cognitive impairment, Ataxia |
ORPHA:163921 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... |
ORPHA:66624 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Chorea, Hypocalcemia, Hyperuricemia, Elevated c... |
ORPHA:94093 |
| Central Diabetes Insipidus |
|
Hyponatremia, Depression, Polydipsia, Anorexia |
ORPHA:178029 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Confusion, Abnormal circul... |
ORPHA:100924 |
| Pyruvate Carboxylase Deficiency |
|
Ataxia, Abnormal temper tantrums, Neonatal hyperbilirubinemia, Recurrent hand flapping, Hyperammo... |
ORPHA:3008 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia |
OMIM:616949 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Hyponatremia, Irritability, Reduced blood urea nitrogen, Decre... |
OMIM:300539 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Hyperglycinemia, Agitation, Irritability, Hyperactivity, Impulsivity |
OMIM:620423 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Hypernatremia, Anorexia |
ORPHA:223 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... |
OMIM:615751 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Confusion, Depression |
ORPHA:83601 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Hyperkalemic Periodic Paralysis |
|
Paresthesia, Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Flexi... |
ORPHA:682 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| 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 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Osteomalacia, Osteomyelitis, Arthritis, Anorexia, Elevated circulating C-reactiv... |
OMIM:619381 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Whipple Disease |
|
Ataxia, Depression, Polydipsia, Hyponatremia, Arthritis, Anorexia |
ORPHA:3452 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Hypertr... |
OMIM:603553 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Hartsfield Syndrome |
|
Craniosynostosis, Hypernatremia |
OMIM:615465 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Familial Dysautonomia |
|
Impaired pain sensation, Osteolysis, Hyponatremia, Ataxia, Recurrent fractures |
ORPHA:1764 |
| Snakebite Envenomation |
|
Hyponatremia, Neuromuscular dysphagia, Pseudobulbar paralysis |
ORPHA:449285 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia |
OMIM:617913 |
| Alg8-Cdg |
|
Camptodactyly, Hyponatremia, Ataxia |
ORPHA:79325 |
| Acute Intermittent Porphyria |
|
Mental deterioration, Memory impairment, Depression, Somatic sensory dysfunction, Pseudobulbar pa... |
ORPHA:79276 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Addictive alcohol use, Hyponatremia |
ORPHA:1930 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hyponatremia, Generalized bone demineralization, Anorexia, Hypercalcemia |
ORPHA:199299 |
| Cholera |
|
Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentration |
ORPHA:173 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Legionnaires Disease |
|
Anorexia, Hyponatremia, Ataxia |
ORPHA:549 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Infant Botulism |
|
Hyponatremia, Dysphagia, Anorexia |
ORPHA:178478 |
| Mirage Syndrome |
|
Radial club hand, Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Hypocalcemia, Hyponatremia, Arthritis, Elevated circulating C-reactive protein c... |
ORPHA:247353 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia |
ORPHA:199296 |
| Addison Disease |
|
Hyperuricemia, Hyponatremia, Salt craving, Generalized bone demineralization, Anorexia, Hyperkale... |
ORPHA:85138 |
| Japanese Encephalitis |
|
Stiff neck, Elbow flexion contracture, Hyponatremia, Cognitive impairment, Anorexia, Choreoathetosis |
ORPHA:79139 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Somatic sensory dysfunction |
ORPHA:79473 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Polydipsia, Rickets, Hypomagnesemia, Hypophosphate... |
OMIM:219800 |
| Alg12-Cdg |
|
Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Abnormal bone ossification, Camptodactyly |
ORPHA:79324 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Hyponatremia, Cognitive impai... |
OMIM:610505 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia |
ORPHA:1667 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Anorexia |
ORPHA:361 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyponatremia, Osteoporosis, Hyperkalemia, Reduced... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyponatremia, Osteoporosis, Hyperkalemia, Reduced... |
ORPHA:289548 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... |
ORPHA:411634 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Irritability, Hypokalemia, Hyponatremia, Unconjuga... |
ORPHA:90038 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Depression, Osteomalacia, Joint stiffness, Joint hypermobility, Hyponatr... |
ORPHA:534 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Cognitive impairment |
ORPHA:309246 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemia, Hypercalcemia, Increased circu... |
ORPHA:95409 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:613090 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Tracheomalacia |
OMIM:620155 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Chédiak-Higashi Syndrome |
|
Somatic sensory dysfunction, Increased circulating ferritin concentration, Hypertriglyceridemia, ... |
ORPHA:167 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Depression, Polydipsia, Impaired pain sensation, Hyperlipidemia, Emotion... |
ORPHA:293987 |
| Shigellosis |
|
Hyponatremia, Abnormal blood ion concentration, Arthritis, Anorexia |
ORPHA:810 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Emotional lability, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulati... |
ORPHA:89938 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Panhypophysitis |
|
Hyponatremia, Polydipsia |
ORPHA:95513 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Osteoporosis, Abnormal fear-induced behavior, Emotional lability, Hypokalemia |
OMIM:219090 |
| Pituitary Apoplexy |
|
Hyponatremia, Confusion |
ORPHA:95613 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Cognitive impairment, Hypertriglyceridemia, Psychomotor deter... |
ORPHA:275761 |
| Holoprosencephaly |
|
Hyponatremia, Chorea, Cognitive impairment, Joint hypermobility |
ORPHA:2162 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:602522 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia, Ataxia |
OMIM:618426 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Hyperkalemia, Hyponatremia, Hypocalcemia |
ORPHA:544482 |
| Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Short attention span, Hypocalce... |
OMIM:619991 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia |
ORPHA:293978 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Polydipsia, Cognitive impairment, Increased serum bile acid concentration |
ORPHA:731 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Decreased circulating ... |
OMIM:201750 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
