Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h... |
ORPHA:35878 |
Hypoglycemia, Leucine-Induced |
|
Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemi... |
ORPHA:276580 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve... |
ORPHA:276575 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Irritability, Polydipsia, Hypernatremia, Diabetes insipidus |
OMIM:304800 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Irritability, Polydipsia, Hypernatremia |
OMIM:125800 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ... |
OMIM:606762 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Polyphagia, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid... |
ORPHA:276556 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum lepti... |
OMIM:617885 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... |
OMIM:614736 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Agitation, Pancreatic islet-cell hyperplasia, Fasting hy... |
ORPHA:276608 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Depression, Polydipsia, Diabetes insipidus |
ORPHA:178029 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia |
OMIM:618406 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Irritability, Decrea... |
OMIM:300539 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level... |
OMIM:610600 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hep... |
ORPHA:3008 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Polyphagia |
OMIM:620195 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
Nephrogenic Diabetes Insipidus |
|
Nephrogenic diabetes insipidus, Polydipsia, Hypernatremia, Anorexia |
ORPHA:223 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenosis, Hypernatremia, ... |
OMIM:615508 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi... |
ORPHA:199296 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
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 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... |
ORPHA:94093 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556037 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
OMIM:615926 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:264350 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... |
ORPHA:280356 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556030 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin ... |
OMIM:203400 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Glycosuria, Agitat... |
ORPHA:263455 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
ORPHA:361 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... |
ORPHA:100924 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... |
ORPHA:99886 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Depression |
ORPHA:163921 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... |
ORPHA:79237 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... |
ORPHA:90791 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Panhypophysitis |
|
Hyponatremia, Decreased serum testosterone concentration, Decreased circulating cortisol level, R... |
ORPHA:95513 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... |
ORPHA:199299 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... |
ORPHA:2298 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Secundum atrial septal defect, Hypoglycemia |
OMIM:608688 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Anorexia, Splenomegaly, Insulin resistance, Myocarditis... |
ORPHA:3452 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Depression, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
OMIM:214700 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... |
ORPHA:171876 |
Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia |
ORPHA:2849 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... |
ORPHA:95512 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Central... |
ORPHA:1667 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen |
OMIM:613845 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus |
ORPHA:3085 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An... |
ORPHA:95409 |
Snakebite Envenomation |
|
Hyponatremia, Hypopituitarism, Pseudobulbar paralysis, Neuromuscular dysphagia |
ORPHA:449285 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Insulin res... |
ORPHA:528 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Hyperkalem... |
ORPHA:90790 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Addison Disease |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Hypoglycemi... |
ORPHA:85138 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... |
ORPHA:71212 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... |
OMIM:603553 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentra... |
OMIM:201810 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalc... |
ORPHA:173 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Atrial septal defect, Enlarged ovaries, Impaired glucose tolerance, Vent... |
ORPHA:769 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Elevated circulating thyroid-stimulatin... |
OMIM:618183 |
Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis, Abnormal heart morphology |
ORPHA:391673 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
Mpi-Cdg |
|
Hepatomegaly, Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc... |
ORPHA:31824 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Anorexia, Splenomegaly, Myocarditis, Endocarditis |
ORPHA:549 |
Hartsfield Syndrome |
|
Hypernatremia, Gonadotropin deficiency, Diabetes insipidus |
OMIM:615465 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Adrenal insufficiency, Decreased c... |
ORPHA:427 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Anorexia, Splenomegaly, Hypoalbuminemia, H... |
OMIM:619381 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypergonadotropic hy... |
OMIM:203800 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... |
ORPHA:289548 |
Infant Botulism |
|
Hyponatremia, Anorexia, Dysphagia |
ORPHA:178478 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute... |
ORPHA:168558 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:613090 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... |
ORPHA:91355 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adr... |
OMIM:617053 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... |
OMIM:246200 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hype... |
ORPHA:79086 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious pub... |
ORPHA:90794 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
OMIM:613327 |
Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Glycosuria |
ORPHA:97362 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia, Dysphagia |
OMIM:617913 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Diabetes mellitus, Oral-pharyngeal dysphagia, Hypomagnesemia, Splenom... |
OMIM:219800 |
Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Muscular ventricular septal defect, B... |
ORPHA:79324 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Anorexia, Myocarditis, Abnormal blood ion concentration |
ORPHA:810 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
ORPHA:89938 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia |
OMIM:602522 |
Lipodystrophy, Familial Partial, Type 2 |
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Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant di... |
OMIM:151660 |
Porphyria Variegata |
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Hyponatremia, Abnormal circulating porphyrin concentration, Inappropriate antidiuretic hormone se... |
ORPHA:79473 |
Dopamine Beta-Hydroxylase Deficiency |
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Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hepatomegaly, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes ... |
OMIM:248370 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Splenomegaly... |
OMIM:269700 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo... |
OMIM:610505 |
Proprotein Convertase 1/3 Deficiency |
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Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Splenomegaly, Hype... |
OMIM:608594 |
Liver Disease, Severe Congenital |
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Cardiomegaly, Hypocalcemia, Elevated hepatic iron concentration, Atrial septal defect, Patent for... |
OMIM:619991 |
Familial Renal Glucosuria |
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Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
Acute Intermittent Porphyria |
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Hyponatremia, Restlessness, Pseudobulbar paralysis, Depression |
ORPHA:79276 |
Leprechaunism |
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Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... |
ORPHA:508 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Abnormal... |
ORPHA:540 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... |
ORPHA:90038 |
Macrophage Activation Syndrome |
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Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:158061 |
Prader-Willi Syndrome |
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Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hyperparathyroidism, Diabetes insipidus, Hypoammonemia, Depression, Hypophosphatemi... |
ORPHA:534 |
Atelis Syndrome 2 |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul... |
OMIM:620185 |
Holoprosencephaly |
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Hyponatremia, Diabetes mellitus, Hypoglycemia, Ventricular septal defect, Abnormal pulmonary valv... |
ORPHA:2162 |
Rabin-Pappas Syndrome |
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Hyponatremia |
OMIM:620155 |
Japanese Encephalitis |
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Hyponatremia, Inappropriate antidiuretic hormone secretion, Anorexia |
ORPHA:79139 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Hyperkalemia, Primary adrenal insuffic... |
ORPHA:275761 |
Chédiak-Higashi Syndrome |
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Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentr... |
ORPHA:167 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Woodhouse-Sakati Syndrome |
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Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... |
ORPHA:3464 |
Steinert Myotonic Dystrophy |
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Diabetes mellitus, Hypercholesterolemia, Decreased response to growth hormone stimulation test, A... |
ORPHA:273 |
Adult Acute Respiratory Distress Syndrome |
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Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Familial Dysautonomia |
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Hyponatremia |
ORPHA:1764 |
Atypical Werner Syndrome |
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Hypertriglyceridemia, Diabetes mellitus, Abnormal circulating leptin concentration, Aortic valve ... |
ORPHA:79474 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
Solitary Fibrous Tumor |
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Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsu... |
ORPHA:2126 |
Autosomal Recessive Polycystic Kidney Disease |
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Hyponatremia, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentration, Polydips... |
ORPHA:731 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hyponatremia, Hypokalemia |
OMIM:618426 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Hyponatremia |
OMIM:618252 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Bicuspid aortic valve, High urinary gonadotropin level, Increased circulating gonadotropin level,... |
ORPHA:99413 |
Turner Syndrome |
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Bicuspid aortic valve, High urinary gonadotropin level, Increased circulating gonadotropin level,... |
ORPHA:881 |
Mosaic Monosomy X |
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Bicuspid aortic valve, High urinary gonadotropin level, Increased circulating gonadotropin level,... |
ORPHA:99228 |
Monosomy X |
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Bicuspid aortic valve, High urinary gonadotropin level, Increased circulating gonadotropin level,... |
ORPHA:99226 |
Tenorio Syndrome |
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Emotional lability, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Parenteral Nutrition-Associated Cholestasis |
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Splenomegaly, Abnormality of cytokine secretion |
ORPHA:567983 |
Alström Syndrome |
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Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth h... |
ORPHA:64 |
Pmm2-Cdg |
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Pericarditis, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, P... |
ORPHA:79318 |
Leukocyte Adhesion Deficiency |
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Hyperinsulinemic hypoglycemia |
ORPHA:2968 |