Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Fever |
ORPHA:183713 |
Familial Cold Autoinflammatory Syndrome 4 |
|
Fever |
OMIM:616115 |
Anhidrosis, Isolated, With Normal Sweat Glands |
|
Heat intolerance |
OMIM:106190 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Fever |
ORPHA:319600 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Malignant hyperthermia |
OMIM:600467 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
Pontiac Fever |
|
Fever |
ORPHA:99748 |
Sudden Infant Death Syndrome |
|
Malignant hyperthermia |
OMIM:272120 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Decreased circulating renin level, Hyperchloremia |
OMIM:614492 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Cyclic Neutropenia |
|
Fever |
OMIM:162800 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... |
ORPHA:263458 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:240200 |
Macrophagic Myofasciitis |
|
Fever |
ORPHA:592 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... |
OMIM:615751 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Fever |
OMIM:614674 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Hypoglycemic seizures |
ORPHA:199296 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia |
OMIM:620152 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Progressive Nodular Histiocytosis |
|
Fever |
ORPHA:158022 |
Hyperthermia, Cutaneous, With Headaches And Nausea |
|
Fever |
OMIM:145590 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Pyruvate Carboxylase Deficiency |
|
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... |
ORPHA:3008 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:614736 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
Chronic Recurrent Multifocal Osteomyelitis 3 |
|
Fever |
OMIM:259680 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Fever, Periodic fever |
OMIM:617772 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Hypoglycemia, Hyperglycinemia, Hyperglycemia |
OMIM:620423 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever, Malignant hyperthermia |
OMIM:601887 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:613090 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Fever |
OMIM:619175 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
Hypohidrosis With Abnormal Palmar Dermal Ridges |
|
Fever |
OMIM:241120 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Diabetes mellitus |
OMIM:613845 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2926 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Multicentric Reticulohistiocytosis |
|
Fever |
ORPHA:139436 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia |
ORPHA:682 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:267700 |
Cholera |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia |
ORPHA:173 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:171876 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Malignant hyperthermia |
OMIM:217150 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
Colchicine Poisoning |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:602522 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4 |
|
Fever |
OMIM:614212 |
Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Ketotic hypoglycemia, Hypoglycemic seizures |
ORPHA:361 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia, Neonatal insulin-dependent dia... |
ORPHA:1667 |
Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Complex Regional Pain Syndrome |
|
Dysesthesia, Allodynia, Somatic sensory dysfunction, Trophic changes related to pain |
ORPHA:83452 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Bartter Syndrome Type 4 |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
ORPHA:90790 |
Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia, Glycosuria |
ORPHA:97362 |
Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:617053 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Type I diabetes mellitus |
ORPHA:199299 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... |
OMIM:601678 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia |
ORPHA:90791 |
Generalized Pustular Psoriasis |
|
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... |
OMIM:603553 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Juvenile Nephropathic Cystinosis |
|
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Glycosuria, Hypophosphatemia, Hypocalcemic... |
ORPHA:411634 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia, Hypo... |
ORPHA:95409 |
Whipple Disease |
|
Hyponatremia, Insulin resistance |
ORPHA:3452 |
Immunodeficiency 32A |
|
Fever |
OMIM:614893 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... |
OMIM:241200 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
Spinocerebellar Ataxia Type 3 |
|
Abnormality of temperature regulation |
ORPHA:98757 |
Shigellosis |
|
Abnormal blood ion concentration, Hyponatremia, Hypoglycemia |
ORPHA:810 |
Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia |
ORPHA:95613 |
Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Recurrent hypoglycemia |
ORPHA:79324 |
Addison Disease |
|
Hyperkalemia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Hyponatremia, Hyper... |
ORPHA:85138 |
Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypocalcemia, Hyponatremia, Calcinosis, Hypokalemia |
OMIM:617913 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hyponatremia, Neonatal hypoglycemia, Hypochloremia |
ORPHA:90794 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent hypoglycemia |
ORPHA:293978 |
Pfapa Syndrome |
|
Abnormality of temperature regulation |
ORPHA:42642 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... |
ORPHA:289548 |
Sheehan Syndrome |
|
Hyponatremia, Hypoglycemia |
ORPHA:91355 |
Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... |
ORPHA:90038 |
Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... |
OMIM:219800 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
Holoprosencephaly |
|
Hyponatremia, Hypoglycemia, Diabetes mellitus |
ORPHA:2162 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyponatremia, Hyperkalemia, Diabetes mellitus |
ORPHA:544482 |
Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Hyponatremia, Hyperkalemia, Hypercholesterolemia |
ORPHA:275761 |
Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia |
ORPHA:167 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypokalemia, Hyponatremia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
Joubert Syndrome 35 |
|
Abnormality of temperature regulation |
OMIM:618161 |
Beta-Thalassemia |
|
Abnormality of temperature regulation |
ORPHA:848 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperglycemia, Hyperlipidemia |
ORPHA:293987 |
Liver Disease, Severe Congenital |
|
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... |
OMIM:619991 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia |
OMIM:618493 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Abnormality of temperature regulation |
OMIM:619173 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyperkalemia, Hyponatremia, Decreased circulating renin level, Hypoglycemia |
OMIM:201750 |
Machado-Joseph Disease Type 1 |
|
Abnormality of temperature regulation |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Abnormality of temperature regulation |
ORPHA:276241 |
Machado-Joseph Disease Type 3 |
|
Abnormality of temperature regulation |
ORPHA:276244 |
Stuve-Wiedemann Syndrome 1 |
|
Recurrent fever, Fever, Abnormality of temperature regulation |
OMIM:601559 |
Chronic Mucocutaneous Candidiasis |
|
Abnormality of temperature regulation |
ORPHA:1334 |
Cockayne Syndrome Type 1 |
|
Abnormality of temperature regulation |
ORPHA:90321 |
Ulnar-Mammary Syndrome |
|
Abnormality of temperature regulation |
ORPHA:3138 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Abnormality of temperature regulation |
OMIM:209880 |
Deeah Syndrome |
|
Abnormality of temperature regulation |
OMIM:619004 |
Acute Transverse Myelitis |
|
Fever, Abnormality of temperature regulation |
ORPHA:139417 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of temperature regulation |
ORPHA:667 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2273 |