| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Irritability, Polydipsia, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Irritability, Polydipsia, Hypernatremia |
OMIM:304800 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hypo... |
ORPHA:94093 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Central Diabetes Insipidus |
|
Hyponatremia, Polydipsia, Anorexia, Depression |
ORPHA:178029 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hand tremor |
OMIM:609153 |
| Multiple Myeloma |
|
Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Dystonia, Anorexi... |
ORPHA:3008 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... |
OMIM:300539 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Hypernatremia, Anorexia |
ORPHA:223 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Dystonia, Depression |
ORPHA:163921 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia |
OMIM:605899 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... |
ORPHA:100924 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia |
OMIM:238700 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypoproteinemia, Aggressive behavior |
OMIM:608093 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Hypertriglyceridemia, Dystonia |
OMIM:615924 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dys... |
OMIM:612716 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Anorexia |
ORPHA:2494 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... |
OMIM:261600 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Irritability, H... |
OMIM:603553 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Snakebite Envenomation |
|
Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia |
ORPHA:449285 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomalacia, Elevated circulating C-reactive protein concentration, Anorexia, Hypoalbuminemia, H... |
OMIM:619381 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia |
OMIM:602522 |
| Leptospirosis |
|
Hyperproteinemia, Anorexia |
ORPHA:509 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp... |
OMIM:601678 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Birk-Landau-Perez Syndrome |
|
Choreoathetosis, Dystonia, Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Emot... |
ORPHA:89938 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Incre... |
OMIM:241200 |
| Hartsfield Syndrome |
|
Hypernatremia, Craniosynostosis |
OMIM:615465 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Infant Botulism |
|
Hyponatremia, Anorexia, Dysphagia |
ORPHA:178478 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Osteomalacia, Hypocalcemia |
OMIM:179800 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia, Generalized bone demineraliza... |
ORPHA:199299 |
| Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Depression |
ORPHA:83601 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia, Dysphagia |
OMIM:617913 |
| Cholera |
|
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Rickets, Anorexia |
OMIM:611590 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... |
ORPHA:3077 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| East Syndrome |
|
Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia, Action ... |
ORPHA:199343 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Rickets |
OMIM:602722 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... |
ORPHA:95409 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
| Whipple Disease |
|
Hyponatremia, Polydipsia, Anorexia, Depression |
ORPHA:3452 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
| Addison Disease |
|
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... |
ORPHA:85138 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Anorexia |
ORPHA:361 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Mirage Syndrome |
|
Hyponatremia, Radial club hand, Hyperkalemia |
OMIM:617053 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Tremor, Depression, Pseudobulbar paralysis |
ORPHA:79276 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Legionnaires Disease |
|
Hyponatremia, Anorexia |
ORPHA:549 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Cystinosis |
|
Rickets, Hypokalemia, Hypophosphatemia, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
| Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Tremor, Hyperammonemia, Dystonia |
OMIM:610505 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
| Japanese Encephalitis |
|
Hyponatremia, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Pill-rolling tremor, Dystonia |
ORPHA:79139 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:168558 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia |
OMIM:613239 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... |
ORPHA:289548 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Tremor, Increased circulating ferritin concentration, Hypopro... |
ORPHA:167 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Familial Dysautonomia |
|
Hyponatremia, Osteolysis |
ORPHA:1764 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Mildly el... |
ORPHA:79102 |
| Mercury Poisoning |
|
Tremor, Hypokalemia, Anorexia, Dystonia |
ORPHA:330021 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... |
ORPHA:90038 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia, Hypokalemia |
ORPHA:403 |
| Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Abnormal bone ossification |
ORPHA:79324 |
| Panhypophysitis |
|
Hyponatremia, Polydipsia |
ORPHA:95513 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Oral-pharyngeal dysphagia, Hypomagnesemia, Rickets, Reduced blood urea nitrogen, Hy... |
OMIM:219800 |
| Shigellosis |
|
Hyponatremia, Abnormal blood ion concentration, Anorexia |
ORPHA:810 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia, Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia, Intenti... |
OMIM:612780 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Depression, Self-injurious behav... |
ORPHA:293987 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Abnormal circulating creatine concentration, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Addictive alcohol use, Hypocalcemia, Euphoria |
ORPHA:31826 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia |
OMIM:175500 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Osteomalacia, Hypoammonemia, Depression, Hypophosphatemia, Self-injurious behavior,... |
ORPHA:534 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypokalemia |
ORPHA:251274 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Athetosis, Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia |
ORPHA:293978 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Polydipsia, Hypokalemia |
ORPHA:369929 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Hyperbilir... |
OMIM:227810 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Emotional lability, Hypokalemia, Osteoporosis |
OMIM:219090 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia, Polydipsia |
ORPHA:411629 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase, Tremor, Depression, ... |
ORPHA:845 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Neonatal hyperbilirubinemia |
OMIM:609727 |
| Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Holoprosencephaly |
|
Hyponatremia, Dystonia |
ORPHA:2162 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Gitelman Syndrome |
|
Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia |
OMIM:263800 |
| Helix Syndrome |
|
Hypokalemia, Polydipsia, Hypermagnesemia |
OMIM:617671 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation |
ORPHA:340 |
| Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia |
OMIM:207800 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Increased circulating thyroglobulin level |
OMIM:609152 |
| Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level |
OMIM:607364 |
| Osteootohepatoenteric Syndrome |
|
Hypokalemia, Increased serum bile acid concentration, Reduced bone mineral density |
OMIM:619377 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Polydipsia, Increased serum bile acid concentration |
ORPHA:731 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Laryngea... |
ORPHA:2388 |
| Distal Renal Tubular Acidosis |
|
Osteomalacia, Rickets, Reduced bone mineral density, Hypokalemia, Polydipsia |
ORPHA:18 |
| Adrenocortical Carcinoma |
|
Irritability, Hypokalemia |
ORPHA:1501 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Depression |
OMIM:184850 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Depression |
OMIM:620114 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating ... |
ORPHA:3337 |
| Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response |
OMIM:616881 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Craniosynostosis, Decreased circulating renin level |
OMIM:201750 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
| Rabson-Mendenhall Syndrome |
|
Polydipsia, Hypokalemia, Increased C-peptide level |
ORPHA:769 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Irritability, Exaggerated startle response |
OMIM:617864 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Depression |
OMIM:170390 |
| Proximal Renal Tubular Acidosis |
|
Hypokalemia, Polydipsia, Bicarbonaturia, Reduced bone mineral density |
ORPHA:47159 |
| Scorpion Envenomation |
|
Restlessness, Increased circulating NT-proBNP concentration, Tremor, Hypokalemia, Increased circu... |
ORPHA:466677 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90793 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Aggressive behavio... |
ORPHA:99826 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Vipoma |
|
Hypokalemia, Hypercalcemia, Anorexia |
ORPHA:97282 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Hypokalemia, Osteoporosis, Tremor |
ORPHA:91347 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Dysphagia |
OMIM:617527 |
| Pearson Syndrome |
|
Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia |
ORPHA:699 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Exaggerated startle response, Dystonia, Decreased serum iron, Osteoporosis, Dysphagia... |
ORPHA:438213 |
| Gitelman Syndrome |
|
Salt craving, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Polydipsia |
ORPHA:358 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Nelson Syndrome |
|
Hypokalemia |
ORPHA:199244 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia |
ORPHA:786 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
| Leprechaunism |
|
Hypokalemia, Increased circulating renin level |
ORPHA:508 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia, Osteolysis |
ORPHA:286 |
