Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... |
OMIM:614736 |
Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... |
OMIM:147630 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... |
OMIM:610600 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... |
ORPHA:35878 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia |
OMIM:240200 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... |
OMIM:619510 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
Congenital Isolated Acth Deficiency |
|
Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circulating cortisol... |
ORPHA:199296 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Protein-losing enteropathy, Decreased circulating IgA level, Aga... |
OMIM:613502 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal ... |
ORPHA:556037 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... |
OMIM:177735 |
Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... |
OMIM:264350 |
Lactose Intolerance, Adult Type |
|
Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia, Reduced blood ... |
OMIM:300539 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Anemia, Enterocol... |
OMIM:616050 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal ... |
ORPHA:556030 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... |
ORPHA:324575 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin ... |
OMIM:203400 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia |
ORPHA:71529 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentration, Intestinal lym... |
ORPHA:90362 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level |
ORPHA:103907 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... |
ORPHA:91354 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276580 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... |
OMIM:300200 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276575 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone level, Hypoca... |
OMIM:618883 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus,... |
OMIM:304790 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
Central Diabetes Insipidus |
|
Hyponatremia, Diabetes insipidus |
ORPHA:178029 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Villous atrophy, Duodenitis |
OMIM:614328 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Panhypogammaglobulinemia, Villous atrophy, Agammaglobulinemia, Neutropenia, Col... |
OMIM:209920 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Decreas... |
OMIM:614700 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
Netherton Syndrome |
|
Decreased circulating IgG level, Increased circulating IgE level, Recurrent infection of the gast... |
OMIM:256500 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi... |
OMIM:214700 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus at puberty, Abnormal ... |
ORPHA:280356 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hyperkalemia, Co... |
ORPHA:90791 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Villous atrophy, Abn... |
ORPHA:398063 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Abnormal circulating aldosterone, Glucocortocoid-insensitive primary hyperaldosteronism, Hyponatr... |
ORPHA:171876 |
Hyperaldosteronism, Familial, Type Ii |
|
Hyperaldosteronism, Hypokalemia |
OMIM:605635 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... |
ORPHA:361 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hashimoto thyroiditis, Hypothyroidism, Hyponatremia, Goiter |
ORPHA:83601 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71526 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... |
ORPHA:276556 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
Secondary Short Bowel Syndrome |
|
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... |
ORPHA:95427 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen, Diabetes mellitus |
OMIM:613845 |
Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Panhypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:616033 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hype... |
ORPHA:90790 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Alpha-Heavy Chain Disease |
|
Anemia, Dysgammaglobulinemia, Abnormal small intestine morphology, Splenomegaly |
ORPHA:100025 |
Congenital Tufting Enteropathy |
|
Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo... |
ORPHA:92050 |
Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adrenocorticotropin de... |
ORPHA:199299 |
Lactase Deficiency, Congenital |
|
Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... |
OMIM:619079 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Incre... |
ORPHA:427 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia |
OMIM:613090 |
Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... |
OMIM:615363 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... |
OMIM:618183 |
Chylomicron Retention Disease |
|
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes |
OMIM:246700 |
Snakebite Envenomation |
|
Hypopituitarism, Hyponatremia |
ORPHA:449285 |
Pituitary Apoplexy |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:95613 |
Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hyperbilir... |
ORPHA:1667 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Pancreatic isle... |
ORPHA:263455 |
Acute Adrenal Insufficiency |
|
Hypoglycemia, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insuffici... |
ORPHA:95409 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, High palate, Villous atrophy |
OMIM:601110 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Protein-losing enteropathy, Villous atrophy |
OMIM:602579 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Recurrent hypoglycemia, Decreased response t... |
ORPHA:293978 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, H... |
ORPHA:289548 |
Addison Disease |
|
Thymoma, Type I diabetes mellitus, Androgen insufficiency, Hypoglycemia, Adrenal calcification, I... |
ORPHA:85138 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, H... |
ORPHA:168558 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Cholera |
|
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration |
ORPHA:173 |
Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
Mirage Syndrome |
|
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia, Hypergonadot... |
OMIM:617053 |
Trichohepatoenteric Syndrome 2 |
|
Colitis, Villous atrophy |
OMIM:614602 |
Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
Congenital Disorder Of Glycosylation, Type Il |
|
Villous atrophy, Splenomegaly |
OMIM:608776 |
Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galactitol in plasma, Hy... |
ORPHA:79237 |
Immunodeficiency 31C |
|
Protein-losing enteropathy, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, Splenomega... |
OMIM:614162 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Hypoalbuminemia, Hypotriglyceridemia, Abnormal ci... |
ORPHA:2298 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy |
OMIM:600955 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Glycosuria |
ORPHA:97362 |
Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... |
ORPHA:90794 |
Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia |
ORPHA:247353 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:363400 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... |
OMIM:603553 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... |
ORPHA:411634 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Whipple Disease |
|
Insulin resistance, Hypothyroidism, Hyponatremia |
ORPHA:3452 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... |
OMIM:615751 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
Porphyria Variegata |
|
Hyponatremia, Inappropriate antidiuretic hormone secretion, Abnormal circulating porphyrin concen... |
ORPHA:79473 |
Osteootohepatoenteric Syndrome |
|
Anemia, Increased intestinal transit time, Villous atrophy, Ileoileal intussusception |
OMIM:619377 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Decreased circulating IgA level, Villous atrophy, Thrombocytosis... |
OMIM:212065 |
Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anoperineal fistula, Decreased circulating total IgG, Villous ... |
OMIM:619381 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Diabetes insipidus, Hypernatremia |
OMIM:304800 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
Eosinophilic Gastroenteritis |
|
Protein-losing enteropathy, Hematochezia, Leukocytosis, Anemia, Abnormality of the gastrointestin... |
ORPHA:2070 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Hypernatremia |
OMIM:125800 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... |
ORPHA:785 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Villous atrophy, Refractory sideroblastic anemia, Reticulocyt... |
OMIM:557000 |
Syndromic Diarrhea |
|
Panhypogammaglobulinemia, Lymphopenia, Villous atrophy, Splenomegaly, Hypoplasia of the thymus, H... |
ORPHA:84064 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Lymphopenia, Hepatosplenomegaly, Villous atrophy, Autoimmune hemolytic anemia, Abnormal intestine... |
ORPHA:391487 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Fasti... |
ORPHA:71212 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hypercholesterolemia, Hypert... |
ORPHA:528 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Alg12-Cdg |
|
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Decreased serum insul... |
ORPHA:79324 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia |
OMIM:602522 |
Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... |
OMIM:615237 |
Mpi-Cdg |
|
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin syst... |
ORPHA:89938 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Lymphopenia, Decreased CD4:CD8 ratio, Villous atrophy, Perianal dermatitis, A... |
OMIM:619573 |
Rabin-Pappas Syndrome |
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Hyponatremia |
OMIM:620155 |
Mandibuloacral Dysplasia |
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Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... |
ORPHA:2457 |
Glucose-Galactose Malabsorption |
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Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro... |
OMIM:300048 |
X-Linked Acrogigantism |
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Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis |
OMIM:617913 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Hypoalbuminemia, Hypernatremia, Reduced circulating growth hormone concentration |
OMIM:615508 |
Donohue Syndrome |
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Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... |
OMIM:246200 |
Shigellosis |
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Hyponatremia, Abnormal blood ion concentration, Hypoglycemia |
ORPHA:810 |
Cystinosis, Nephropathic |
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Male hypogonadism, Decreased circulating carnitine concentration, Glycosuria, Hypomagnesemia, Hyp... |
OMIM:219800 |
Trichohepatoenteric Syndrome 1 |
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Bifid uvula, Villous atrophy, Splenomegaly, Thrombocytosis, Decreased circulating antibody level,... |
OMIM:222470 |
Pancreatic Lipase Deficiency |
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Steatorrhea, Fat malabsorption |
OMIM:614338 |
Webb-Dattani Syndrome |
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Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, An... |
OMIM:615926 |
Chronic Bilirubin Encephalopathy |
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Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
Pseudohypoaldosteronism, Type Iib |
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Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
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Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism |
OMIM:614495 |
Japanese Encephalitis |
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Hyponatremia, Inappropriate antidiuretic hormone secretion |
ORPHA:79139 |
Rabson-Mendenhall Syndrome |
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Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... |
ORPHA:769 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... |
ORPHA:90038 |
Pyruvate Carboxylase Deficiency |
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Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... |
ORPHA:3008 |
Holoprosencephaly |
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Hypoglycemia, Panhypopituitarism, Hyponatremia, Diabetes insipidus, Diabetes mellitus, Anterior h... |
ORPHA:2162 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
Lysosomal Acid Lipase Deficiency |
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Adrenal calcification, Primary adrenal insufficiency, Hyponatremia, Hypercholesterolemia, Hypertr... |
ORPHA:275761 |
Pancreatic Colipase Deficiency |
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Steatorrhea, Fat malabsorption, Megaloblastic anemia |
ORPHA:309108 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... |
OMIM:608612 |
Familial Dysautonomia |
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Hyponatremia |
ORPHA:1764 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... |
ORPHA:534 |
Dopamine Beta-Hydroxylase Deficiency |
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Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
Nephrogenic Diabetes Insipidus |
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Nephrogenic diabetes insipidus, Hypernatremia |
ORPHA:223 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia |
ORPHA:544482 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... |
ORPHA:293987 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Hyponatremia |
OMIM:618252 |
Acute Intermittent Porphyria |
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Hyponatremia |
ORPHA:79276 |
Chédiak-Higashi Syndrome |
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Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:167 |
Acquired Generalized Lipodystrophy |
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Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... |
ORPHA:79086 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... |
OMIM:201750 |
Parenteral Nutrition-Associated Cholestasis |
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Villous atrophy, Splenomegaly |
ORPHA:567983 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hypokalemia, Hyponatremia |
OMIM:618426 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Hyperglycemia, Hypernatremia, Hyperglycinemia, Hypoglycemia |
OMIM:620423 |
Lipodystrophy, Familial Partial, Type 2 |
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Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... |
OMIM:151660 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Insulin resistance, Hyperinsulinemia, Elevated circulating creatine kinase concentration, Hypertr... |
OMIM:613327 |
Liver Disease, Severe Congenital |
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Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... |
OMIM:619991 |
Alg9-Cdg |
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Bifid uvula, Villous atrophy, Gastroesophageal reflux |
ORPHA:79328 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... |
OMIM:248370 |
Annular Pancreas |
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High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
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High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Alstrom Syndrome |
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Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Decreased response ... |
OMIM:203800 |
Prader-Willi Syndrome |
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Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... |
OMIM:176270 |
Retinitis Pigmentosa |
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Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Woodhouse-Sakati Syndrome |
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Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
Vascular Hyalinosis |
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Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Leprechaunism |
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Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... |
ORPHA:508 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Anemia, Glossit... |
OMIM:175500 |
Autosomal Recessive Polycystic Kidney Disease |
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Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
Atelis Syndrome 2 |
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Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:620185 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Decreased serum leptin, Hyperinsulinemia, Hypertriglyceridemia, Diabetes mellitus, Insulin-resist... |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Elevat... |
OMIM:269700 |
Juvenile Polyposis Of Infancy |
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High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
Atypical Werner Syndrome |
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Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... |
ORPHA:79474 |
Whim Syndrome |
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Parotitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine morphology, Neut... |
ORPHA:51636 |
Hartsfield Syndrome |
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Gonadotropin deficiency, Diabetes insipidus, Hypernatremia |
OMIM:615465 |
Steinert Myotonic Dystrophy |
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Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... |
ORPHA:273 |
Visceral Myopathy 1 |
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Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... |
OMIM:155310 |
Systemic Sclerosis |
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Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
Juvenile Polyposis Syndrome |
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Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Brain abscess, ... |
ORPHA:2929 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... |
ORPHA:99413 |
Turner Syndrome |
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Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... |
ORPHA:881 |
Mosaic Monosomy X |
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Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... |
ORPHA:99228 |
Monosomy X |
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Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... |
ORPHA:99226 |
Alström Syndrome |
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Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... |
ORPHA:64 |
Pmm2-Cdg |
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Insulin resistance, Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:79318 |
Fraser Syndrome 1 |
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Abnormal cortical gyration, Abnormal small intestine morphology, Abnormality of the anus, Cleft p... |
OMIM:219000 |
Leukocyte Adhesion Deficiency |
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Hyperinsulinemic hypoglycemia |
ORPHA:2968 |