Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Hyper... |
OMIM:614736 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... |
OMIM:214700 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Hyperkalemia, Hypoglycemia, Hyponatremia, Adrenal hypoplasia |
OMIM:240200 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia, Hyponatremia |
OMIM:616949 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Glucose intolerance, Gout, Increased LDL c... |
OMIM:610947 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Adrenocorticotropin de... |
ORPHA:199296 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin level, Increas... |
OMIM:610600 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hy... |
ORPHA:35878 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Decr... |
ORPHA:324575 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen... |
OMIM:613845 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed puberty, Delayed thelarch... |
OMIM:616033 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:613090 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... |
ORPHA:276580 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:71529 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Hyperkalemia,... |
ORPHA:556037 |
Late-Onset Isolated Acth Deficiency |
|
Generalized bone demineralization, Hyperuricemia, Normocytic anemia, Decreased circulating ACTH l... |
ORPHA:199299 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Increased circulating renin level, Hyp... |
OMIM:177735 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Hyponatremia, Hyperactive renin-angiot... |
OMIM:264350 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Diabetes mellitus, Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Osteope... |
OMIM:615363 |
Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Hyperkalemia,... |
ORPHA:556030 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Decreased circulating aldosterone level, Hyponat... |
OMIM:203400 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... |
ORPHA:91354 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
Mirage Syndrome |
|
Leukopenia, Anemia, Radial club hand, Adrenal insufficiency, Hyperkalemia, Lymphopenia, Hypoglyce... |
OMIM:617053 |
Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614492 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Precocious puberty in females, Elevated circulating 17-hydroxyprogesterone concentration, Decreas... |
ORPHA:90794 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Increased circulating renin le... |
OMIM:601678 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resis... |
ORPHA:280356 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Hyperglycemia, Thrombocytopenia, Neutro... |
ORPHA:391673 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... |
ORPHA:785 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Hyperinsulinemia, Insulin resistance |
ORPHA:79084 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... |
OMIM:604367 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Lymphocytos... |
ORPHA:1667 |
Central Diabetes Insipidus |
|
Diabetes insipidus, Hyponatremia |
ORPHA:178029 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Osteomyelitis, Hyperkalemia, Increased cir... |
ORPHA:171876 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:602522 |
Addison Disease |
|
Decreased circulating aldosterone level, Decreased circulating cortisol level, Primary adrenal in... |
ORPHA:85138 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Decreased circulating aldosterone level, Ketotic hypoglycemia, Decreased circ... |
ORPHA:361 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Leukocytosis, Hyponatremia, Thrombocytopenia, Goiter |
ORPHA:83601 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins... |
ORPHA:552 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hyperinsulinemic hypoglycemia, Abnormal circulating fat... |
ORPHA:2298 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Abnormal erythrocyte enzyme level, Increased erythr... |
ORPHA:100924 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:293978 |
Hyperkalemic Periodic Paralysis |
|
Flexion contracture, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:682 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Increased circulating renin le... |
OMIM:241200 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Increased circulating ACTH level, Decreased circulating cortisol level, Hyperkalemia, Adrenal hyp... |
ORPHA:90790 |
Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... |
ORPHA:89938 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Abnormal circulating... |
ORPHA:289548 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... |
OMIM:262190 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Abnormal circulating... |
ORPHA:168558 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71526 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia, Hyponatremia |
OMIM:608688 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyperinsulinemic h... |
ORPHA:263455 |
Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:95613 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Snakebite Envenomation |
|
Thrombocytopenia, Hypopituitarism, Hyponatremia |
ORPHA:449285 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... |
OMIM:241520 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... |
ORPHA:31824 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Decreased circulating aldosterone level, Normocytic anemia, Increased circulating ... |
ORPHA:95409 |
Hemochromatosis, Type 4 |
|
Anemia, Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus, Increased... |
OMIM:606069 |
Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Anemia, Hyponatremia |
ORPHA:79273 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... |
ORPHA:97279 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly, Spherocytosis |
ORPHA:66518 |
Alg8-Cdg |
|
Thrombocytopenia, Camptodactyly, Anemia, Hyponatremia |
ORPHA:79325 |
Whipple Disease |
|
Hypothyroidism, Anemia, Arthritis, Insulin resistance, Hyponatremia, Splenomegaly |
ORPHA:3452 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Hepatosplenomegaly,... |
ORPHA:79237 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level,... |
ORPHA:528 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism |
OMIM:145750 |
X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance |
ORPHA:75563 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Shigellosis |
|
Arthritis, Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Hypoglycemia, Leu... |
ORPHA:810 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... |
ORPHA:99886 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Contractures of the large joints, Increased circulating free fatty acid level, ... |
ORPHA:2457 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... |
ORPHA:91355 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypogonadism |
ORPHA:791 |
Renal Hypoplasia, Bilateral |
|
Glycosuria, Anemia, Hyperkalemia, Hyponatremia |
ORPHA:97362 |
Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hypercholesterolemia, Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal phalanges (... |
OMIM:248370 |
Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Hyperkalemia, Increased circulati... |
ORPHA:427 |
Alg12-Cdg |
|
Abnormal bone ossification, B lymphocytopenia, Camptodactyly, Decreased serum insulin-like growth... |
ORPHA:79324 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal phalanges (feet), Progressive cla... |
OMIM:608612 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Osteopenia, Hyponatremia, Hypocalcemia, Splenomegaly |
OMIM:617913 |
Hepatocellular Carcinoma |
|
Anemia, Liver abscess, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Polycythemia, ... |
ORPHA:88673 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... |
ORPHA:94093 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance |
ORPHA:363400 |
Legionnaires Disease |
|
Splenomegaly, Lymphopenia, Hyponatremia |
ORPHA:549 |
Chédiak-Higashi Syndrome |
|
Anemia, Hypertriglyceridemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Increased circulatin... |
ORPHA:167 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... |
ORPHA:90038 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ... |
OMIM:615751 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, N... |
ORPHA:293964 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyponatremia, Hyp... |
OMIM:618183 |
Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anemia, Inappropriate antidiuretic hormone secretio... |
ORPHA:79473 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Glycosuria, Decreased plasma carnitine, Hypophosphatemia, Hypokalemi... |
OMIM:219800 |
Juvenile Nephropathic Cystinosis |
|
Hypothyroidism, Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Hyponatremia, Ele... |
ORPHA:411634 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hyperinsulinemia, Insulin resistance, Unicameral bone c... |
ORPHA:79086 |
Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Brain abscess, Hemolytic anemia, Hypocalcemia, Hyperkalemia, Diabetes mellitus,... |
ORPHA:544482 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... |
OMIM:231095 |
Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Hyperuricemia, Diabetes insipidus, Decreased response to growth... |
OMIM:203800 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Splenomegaly, Flexion contracture, Insulin resistance, Elevated circulating cre... |
OMIM:613327 |
Familial Dysautonomia |
|
Osteolysis, Recurrent fractures, Hyponatremia |
ORPHA:1764 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia, Primary adrenal insufficiency, Hepatos... |
ORPHA:275761 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Japanese Encephalitis |
|
Stiff neck, Elbow flexion contracture, Neutrophilia, Hyponatremia, Inappropriate antidiuretic hor... |
ORPHA:79139 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Diabetes insipidus, Hypernatremia |
OMIM:304800 |
Holoprosencephaly |
|
Diabetes insipidus, Anterior hypopituitarism, Panhypopituitarism, Diabetes mellitus, Hypoglycemia... |
ORPHA:2162 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypercholesterolemia, Diabetes insipidus, Anemia, Hyperaldosteronism, Recurrent fractures, Abnorm... |
ORPHA:534 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Nephrogenic diabetes insipidus |
OMIM:125800 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevat... |
ORPHA:230 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... |
ORPHA:769 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb... |
ORPHA:3008 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating progesterone, Elevated circulating 17-hydroxyprogesterone concentration, Hu... |
OMIM:201750 |
Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Postprandial hyperglycemia, Pancreatic islet-cell hyperplas... |
OMIM:246200 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Webb-Dattani Syndrome |
|
Diabetes insipidus, Hypernatremia, Decreased response to growth hormone stimulation test, Pituita... |
OMIM:615926 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
X-Linked Acrogigantism |
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Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... |
ORPHA:300373 |
Liver Disease, Severe Congenital |
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Leukopenia, Anemia, Hyperalaninemia, Lymphocytosis, Hyperbilirubinemia, Elevated hepatic iron con... |
OMIM:619991 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... |
ORPHA:293987 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Diabetes mellitus, Decreased se... |
OMIM:608594 |
Lipodystrophy, Familial Partial, Type 2 |
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Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Insulin-res... |
OMIM:151660 |
Congenital Disorder Of Glycosylation, Type Ib |
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Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mellitus, Decr... |
OMIM:269700 |
Acute Intermittent Porphyria |
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Hyponatremia |
ORPHA:79276 |
Nephrogenic Diabetes Insipidus |
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Hypernatremia, Nephrogenic diabetes insipidus |
ORPHA:223 |
Immunodeficiency 82 With Systemic Inflammation |
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Reduced natural killer cell count, Anemia, Osteomyelitis, T lymphocytopenia, B lymphocytopenia, O... |
OMIM:619381 |
Atypical Werner Syndrome |
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Osteolytic defects of the phalanges of the hand, Hyperinsulinemia, Progressive clavicular acroost... |
ORPHA:79474 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Hypernatremia |
OMIM:615508 |
Prader-Willi Syndrome |
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Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... |
OMIM:176270 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hypokalemia, Hyponatremia |
OMIM:618426 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Hypoglycemia, Hypophosphatemic rickets, Recurrent hypoglycemia, Hypoinsulinemia, Reduced C-peptid... |
ORPHA:2126 |
Autosomal Recessive Polycystic Kidney Disease |
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Hypersplenism, Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Thrombo... |
ORPHA:731 |
Leprechaunism |
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Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Hypokalemia, Insulin resistance, In... |
ORPHA:508 |
Hartsfield Syndrome |
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Diabetes insipidus, Hypernatremia, Craniosynostosis, Gonadotropin deficiency |
OMIM:615465 |
Tenorio Syndrome |
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Osteopenia, Joint laxity, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Osteop... |
ORPHA:99413 |
Turner Syndrome |
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High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Osteop... |
ORPHA:881 |
Mosaic Monosomy X |
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High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Osteop... |
ORPHA:99228 |
Monosomy X |
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High urinary gonadotropin level, Hyperinsulinemia, Type II diabetes mellitus, Thyroiditis, Osteop... |
ORPHA:99226 |
Steinert Myotonic Dystrophy |
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Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... |
ORPHA:273 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Osteomyelitis, Perianal abscess, Impaired neutrophil chemotaxis, Coronal ... |
ORPHA:2968 |
Pmm2-Cdg |
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Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... |
ORPHA:79318 |
Alström Syndrome |
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Precocious puberty in females, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone... |
ORPHA:64 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Hypothyroidism, Hypopituitarism, Joint hypermobility, Hepatosplenomegaly, Hypertriglyceridemia, M... |
OMIM:619013 |