| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Irritability, Hypoglycemia |
OMIM:240800 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia |
OMIM:606762 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... |
ORPHA:324575 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... |
ORPHA:293964 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Irritability, Diabetes insipidus, Hypernatremia |
OMIM:304800 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Irritability, Nephrogenic diabetes insipidus, Hypernatremia |
OMIM:125800 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Matern... |
ORPHA:276580 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal ... |
ORPHA:276575 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Irritability, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Increased circulating cortic... |
OMIM:610600 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia |
ORPHA:329249 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Precocious puberty |
OMIM:614736 |
| Central Diabetes Insipidus |
|
Hyponatremia, Anxiety, Depression, Diabetes insipidus |
ORPHA:178029 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia |
OMIM:240200 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:71529 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Increased ... |
ORPHA:3008 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response t... |
ORPHA:276556 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Insulin resistance |
ORPHA:79084 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Ventricular septal defect, Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Diabetes insipid... |
OMIM:615926 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal in... |
ORPHA:199296 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... |
ORPHA:556037 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Goiter, Hypothyroidism, Hashimoto thyroiditis, Anxiety, Depression |
ORPHA:83601 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
| Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Anxiety, Hyperinsulinemic hypoglycemia, F... |
ORPHA:97279 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... |
OMIM:177735 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... |
ORPHA:556030 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... |
ORPHA:280356 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... |
OMIM:264350 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty |
OMIM:616033 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal fear/anxiety-related behavior, Apathy, Anxiety, Increased erythrocyte prot... |
ORPHA:100924 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Anxiety, Depression |
ORPHA:163921 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Increased circulating renin level, Hyponat... |
OMIM:203400 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71526 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Adrenocorticotropic hormone deficiency, Pituitary hypothyroidism, Hypopituitarism, ... |
ORPHA:91354 |
| Nephrogenic Diabetes Insipidus |
|
Nephrogenic diabetes insipidus, Hypernatremia |
ORPHA:223 |
| Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Ab... |
ORPHA:99886 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Hyponatremia, Hypogonadotropic hy... |
OMIM:300200 |
| Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Adrenal insufficiency, Hyponatremia, Conge... |
ORPHA:361 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Abno... |
ORPHA:263455 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Increased serum testosterone level, Increa... |
ORPHA:90791 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hypochloremia, Hyponatremia, Hypokalemia |
OMIM:300971 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabetes mellitus, ... |
OMIM:604367 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Hypercholesterolemia, Hepatosplenomegaly, Hypergon... |
ORPHA:79237 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Hypochloremia, Hyperaldosteronism |
OMIM:214700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... |
OMIM:267700 |
| Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... |
ORPHA:2298 |
| Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
| Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Abnormal circulating aldosterone, Glucocortocoid-insensitive primary ... |
ORPHA:171876 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance |
ORPHA:363400 |
| Adenohypophysitis |
|
Hyponatremia, Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased... |
ORPHA:95512 |
| Panhypophysitis |
|
Hyponatremia, Increased circulating prolactin concentration, Abnormal size of pituitary gland, De... |
ORPHA:95513 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia |
OMIM:618426 |
| Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia |
ORPHA:2849 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Hyponatremia, Diabetes mellitus, Hyperuricemia |
OMIM:613845 |
| Whipple Disease |
|
Myocarditis, Hyponatremia, Hepatomegaly, Pericarditis, Insulin resistance, Splenomegaly, Hypothyr... |
ORPHA:3452 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Hyponatremia, Hyperkalemia, Hypoglycemia, Hyperactive renin-angiotensin syst... |
ORPHA:90790 |
| Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Insulin resistance, Hyp... |
ORPHA:528 |
| Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hyponatremia, Hepatomegaly, Double outlet right ventricle, Hyperbilirubin... |
ORPHA:1667 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| Bangstad Syndrome |
|
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... |
ORPHA:1227 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Dec... |
ORPHA:293978 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hyperinsulinemic h... |
ORPHA:71212 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Hypercalcemia, Hypoglycemia, Decreased circulating ACTH level, ... |
ORPHA:199299 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Hartsfield Syndrome |
|
Gonadotropin deficiency, Diabetes insipidus, Hypernatremia |
OMIM:615465 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Increased total bilirubin, Splenomegaly, Increased c... |
OMIM:603553 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Hyponatremia, Abnormal glucose homeostasis, Abnormal heart morphology |
ORPHA:391673 |
| Estrogen Resistance Syndrome |
|
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
| Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia |
ORPHA:682 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Pericardial effusion, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyro... |
OMIM:618183 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypoalbuminemia |
OMIM:602579 |
| Cholera |
|
Hyponatremia, Hypoglycemia, Hypokalemia, Irritability, Hypocalcemia, Abnormal blood ion concentra... |
ORPHA:173 |
| Pituitary Apoplexy |
|
Hyponatremia, Increased circulating prolactin concentration, Hypoglycemia, Hypergonadotropic hypo... |
ORPHA:95613 |
| Colchicine Poisoning |
|
Myocarditis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal ... |
ORPHA:31824 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Adrenal insufficiency, Hyponatremia, Incre... |
ORPHA:427 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Androgen insufficiency, Hypo... |
ORPHA:95409 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
| Mpi-Cdg |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hypoalbuminemia |
ORPHA:79319 |
| Addison Disease |
|
Hyperkalemia, Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency... |
ORPHA:85138 |
| Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Ventricular septal defect, Hypokalemia,... |
ORPHA:769 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated circulating follicl... |
ORPHA:289548 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria |
OMIM:613090 |
| Sheehan Syndrome |
|
Hyponatremia, Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decr... |
ORPHA:91355 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated circulating follicl... |
ORPHA:168558 |
| Alstrom Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes insipidus... |
OMIM:203800 |
| Snakebite Envenomation |
|
Hyponatremia, Hypopituitarism |
ORPHA:449285 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Endocardial fibroelastosis, Cardiomegaly... |
OMIM:212140 |
| Legionnaires Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Endocarditis, Splenomegaly |
ORPHA:549 |
| Porphyria Variegata |
|
Hyponatremia, Anxiety, Inappropriate antidiuretic hormone secretion, Abnormal circulating porphyr... |
ORPHA:79473 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kin... |
OMIM:600649 |
| Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetralogy of Fallot, Hypothyroidism, Hypoc... |
OMIM:601005 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... |
ORPHA:2457 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Hyperglycemia, Precocious puberty, Pancreatic islet-cell hyperplasia, Postp... |
OMIM:246200 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Decreased circulating aldosterone level, Increased serum test... |
ORPHA:90794 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomegaly, Decreased circula... |
OMIM:618838 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... |
ORPHA:79086 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Hypoglycemia, Hypergonadotropic hypogonadism |
OMIM:617053 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria |
OMIM:602522 |
| Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Hepatomegaly, Type II diabetes mellitus, Hypoglycemia, Hypokalemia, ... |
ORPHA:88673 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Increased serum iron, Hepatomegaly, Glucose intolerance, Hypogonadotropic hyp... |
OMIM:235200 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Hyperins... |
OMIM:608612 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Hyponatremia, Hyperlipidemia, Hyperglycemia, Premature adrenarche, Self-i... |
ORPHA:293987 |
| Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Biventricular hypertrophy, Hypocholes... |
ORPHA:79324 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Splenomegal... |
OMIM:613327 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Hypernatremia, Hypoalbuminemia |
OMIM:619381 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose ... |
OMIM:248370 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Hypochloremia, Hypomagnesemia, E... |
ORPHA:89938 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Anxiety, Depression |
ORPHA:79276 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... |
ORPHA:230 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Elevated circulating creatinine conce... |
ORPHA:90038 |
| Shigellosis |
|
Myocarditis, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration |
ORPHA:810 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyper... |
OMIM:151660 |
| Leprechaunism |
|
Hypertrophic cardiomyopathy, Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypokale... |
ORPHA:508 |
| Holoprosencephaly |
|
Hyponatremia, Ventricular septal defect, Hypoglycemia, Diabetes insipidus, Panhypopituitarism, Di... |
ORPHA:2162 |
| Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Neutropenia, Anemia, Splenomegaly, Abnormal serum interleuki... |
ORPHA:158061 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Glycosuria, Splenomegaly, Primary hypothyroidism, Male hypogonadism, ... |
OMIM:219800 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Reduced na... |
ORPHA:540 |
| Prader-Willi Syndrome |
|
Adrenal insufficiency, Type II diabetes mellitus, Self-injurious behavior, Hypogonadotropic hypog... |
OMIM:176270 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Diabetes insipidus, Hypokalemia, Self-injurious behavior, Hypophosphatemia, Depress... |
ORPHA:534 |
| Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Hyponatremia, Pericardial effusion, Splenomegaly, Increased circulating ferritin... |
ORPHA:167 |
| Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Primary adrenal insufficiency, Hypercholesterolemia, Hepatosplenomega... |
ORPHA:275761 |
| Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Dilated cardiomyopathy, Insulin resistance, ... |
ORPHA:273 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Myocarditis, Diabetes mellitus, Hypocalcemia |
ORPHA:544482 |
| Japanese Encephalitis |
|
Hyponatremia, Inappropriate antidiuretic hormone secretion |
ORPHA:79139 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Ventri... |
OMIM:269700 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hyp... |
ORPHA:3464 |
| Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... |
ORPHA:101096 |
| Danon Disease |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:300257 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Cardiomyopathy, Splenomegaly, Decre... |
OMIM:608594 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... |
ORPHA:70578 |
| Acute Lung Injury |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of tumor ne... |
ORPHA:178320 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Recurrent hypoglycemia, Reduced C-peptide level, Hypoinsulinemia, Hypophosphatemic ... |
ORPHA:2126 |
| Atypical Werner Syndrome |
|
Type II diabetes mellitus, Mitral valve prolapse, Abnormality of circulating leptin level, Insuli... |
ORPHA:79474 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Turner Syndrome |
|
Bicuspid aortic valve, Type II diabetes mellitus, Hyperlipidemia, Glucose intolerance, High urina... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Bicuspid aortic valve, Type II diabetes mellitus, Hyperlipidemia, Glucose intolerance, High urina... |
ORPHA:99228 |
| Monosomy X |
|
Bicuspid aortic valve, Type II diabetes mellitus, Hyperlipidemia, Glucose intolerance, High urina... |
ORPHA:99226 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Type II diabetes mellitus, Hyperlipidemia, Glucose intolerance, High urina... |
ORPHA:99413 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentration, Enlarged... |
ORPHA:731 |
| Tenorio Syndrome |
|
Anxiety, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
| Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion, Splenomegaly |
ORPHA:567983 |
| Alström Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Precocious puberty in females, Type II diabetes mellitus, H... |
ORPHA:64 |
| Pmm2-Cdg |
|
Hypertrophic cardiomyopathy, Pericarditis, Pericardial effusion, Insulin resistance, Hypogonadotr... |
ORPHA:79318 |
| Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
