Bulimia Nervosa, Susceptibility To |
|
Bulimia |
OMIM:607499 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Adrenal Hypoplasia, Cytomegalic Type |
|
Primary adrenal insufficiency, Congenital adrenal hypoplasia |
OMIM:202155 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal enzyme/coenzyme activity |
OMIM:125460 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome |
OMIM:103900 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... |
OMIM:232700 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Glucose intolerance, ... |
ORPHA:189439 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... |
OMIM:601820 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypogonadism, Hyp... |
ORPHA:181393 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Glucose intolerance, ... |
ORPHA:189427 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Loss... |
OMIM:604367 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Recurren... |
OMIM:616000 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... |
OMIM:615830 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Macronodular... |
OMIM:219080 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
ORPHA:363400 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... |
OMIM:615954 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased adipose t... |
ORPHA:71529 |
Macrosomia Adiposa Congenita |
|
Polyphagia |
OMIM:248100 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... |
ORPHA:90790 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Polycystic ovaries, Decreased serum leptin, Hypertriglyceridemia, L... |
ORPHA:79085 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... |
ORPHA:435660 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... |
OMIM:619868 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:151660 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Temple Syndrome |
|
Flexion contracture, Maturity-onset diabetes of the young, Hypertriglyceridemia, Decreased testic... |
OMIM:616222 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia |
OMIM:618406 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... |
ORPHA:75234 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Cough, Hypothyroidism, Hypertrigl... |
OMIM:619013 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency |
OMIM:614278 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Increased C-peptide lev... |
ORPHA:528 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism |
OMIM:613677 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating corticosterone level, Increased ci... |
OMIM:610600 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease... |
ORPHA:435651 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I... |
ORPHA:90793 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased lev... |
ORPHA:79237 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Hypercholestero... |
OMIM:301033 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus,... |
ORPHA:79084 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... |
OMIM:615238 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Mandibuloacral Dysplasia |
|
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia |
OMIM:613886 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:251274 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Elevated hepatic transaminase, Lipodystr... |
OMIM:615381 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia |
ORPHA:329249 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Cognitive impairment, Memo... |
ORPHA:77296 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... |
ORPHA:556037 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Insulin resistance, Cirrhosis, Polycystic ... |
ORPHA:79083 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Congenital Analbuminemia |
|
Hyperlipidemia, Facial edema, Hypoproteinemia, Increased alpha-globulin, Recurrent lower respirat... |
ORPHA:86816 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Cognitive impairment, Hypoglycemia, Hyperuricemia, Recurrent respiratory infections |
ORPHA:364 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:619386 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Impai... |
OMIM:606069 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Polycystic ovaries, Hypertrigl... |
ORPHA:2348 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Peritonitis, Pulmonary embolism, Hypertriglyceridemia, ... |
ORPHA:567548 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Abnormal eating behavior |
OMIM:614962 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Elevated... |
OMIM:617156 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... |
OMIM:605814 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... |
ORPHA:231580 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... |
ORPHA:556030 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Hypercholesterolemia |
ORPHA:254531 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypoglycemia,... |
OMIM:619048 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... |
OMIM:202010 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism, Pulmonary arter... |
ORPHA:369929 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Primary Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Lipoatrophy, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Po... |
ORPHA:90970 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic steatosis, Respiratory distress, Ketoti... |
ORPHA:26792 |
Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Delayed puberty, Hypercholesterolemia |
ORPHA:633 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Premature pubarche |
OMIM:201810 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... |
ORPHA:324575 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Hypokalemia, Precocious puberty, Increased circulating c... |
ORPHA:786 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatocellular carcinoma, Elevated cir... |
ORPHA:370 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic... |
OMIM:617872 |
Cushing Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating... |
ORPHA:96253 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:255120 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia |
ORPHA:96181 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... |
OMIM:613490 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, C... |
OMIM:603471 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
Cog4-Cdg |
|
Cirrhosis, Hepatosplenomegaly, Recurrent upper respiratory tract infections, Elevated hepatic tra... |
ORPHA:263501 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Pedal edema, Small ... |
ORPHA:99889 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... |
OMIM:619662 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Polycystic o... |
ORPHA:79086 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Elevated circulating creatine kinase c... |
ORPHA:264580 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... |
ORPHA:209902 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Jaundice, Hepatosplenomegaly, Pulmonary embolism, Memory impairment, Acute pancre... |
ORPHA:444490 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... |
ORPHA:412 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... |
ORPHA:369 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Polycystic ovaries, Hepatocellular c... |
ORPHA:79240 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Decreased plasma carni... |
OMIM:212140 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Pancreatitis, Hepa... |
ORPHA:280365 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Glucocorticoid Deficiency 5 |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test |
OMIM:617825 |
Pick Disease Of Brain |
|
Polyphagia |
OMIM:172700 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia |
OMIM:617119 |
Alstrom Syndrome |
|
Asthma, Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth ho... |
OMIM:203800 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... |
ORPHA:276580 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cognitive impairment, Progressive neurologic deterioration, Memory impairment, Hypothyroidism, Hy... |
ORPHA:90065 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormal resp... |
ORPHA:95699 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cognitive impairment, Mental deterioration, Elevated circulating creatine kinase concentration, H... |
OMIM:208920 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Elevated circulating creatine ... |
OMIM:613327 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Cryptorchidism, Precocious puberty, Hypercholesterolemia |
ORPHA:96184 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Leptin Receptor Deficiency |
|
Polyphagia, Abnormal eating behavior |
OMIM:614963 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Acute hepatic ... |
ORPHA:71212 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Lipoatrophy, Hypertriglyceridemia, Abnormality of the pulmonary artery, Emphysema, Abnormal intra... |
ORPHA:363618 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia |
ORPHA:369873 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia |
OMIM:609734 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Glucose intolerance, Insulin resistance, Pulmonary arteriove... |
OMIM:606721 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated circulating a... |
OMIM:261680 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... |
OMIM:201400 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Steatorrhea, Jaundice, Dehydration, Elevated hepatic transaminase, Primary adren... |
ORPHA:275761 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... |
ORPHA:276575 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... |
OMIM:619418 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
OMIM:232400 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Ele... |
OMIM:617253 |
Frontotemporal Dementia |
|
Polyphagia |
OMIM:600274 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Respiratory insufficiency, Elevated cir... |
OMIM:615486 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Increased circ... |
OMIM:144650 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase conc... |
ORPHA:42 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:608594 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Prolonged ne... |
ORPHA:90674 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia |
OMIM:616521 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... |
OMIM:262190 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... |
OMIM:613027 |
Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Medullary thyroid carcinoma, Parathyroid adenoma, Multiple lipomas, Emph... |
ORPHA:122 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:269700 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia |
ORPHA:177910 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Abnormality of the thyroid gland, Hypercholesterolemia |
OMIM:182290 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Hyperinsulinemi... |
ORPHA:552 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Hyperlipidemia, Pancreatitis, Hepatomegaly, Cognitive impairment, ... |
ORPHA:79259 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Apnea, Abnormal brainstem morphology |
ORPHA:99852 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hepatic failure, Steato... |
ORPHA:470 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Glycosuria, Elevated circulating glutaric acid conc... |
OMIM:231680 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Hyperbilirubinemia, Cholestasis, Hypermethioninemia, Elevated hepatic t... |
OMIM:614300 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Respiratory arrest, Hyperammonemia, E... |
OMIM:201475 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circ... |
OMIM:608836 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic st... |
OMIM:201450 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatic steatosis |
OMIM:615595 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Respiratory arrest, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating ... |
OMIM:600649 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Corneal scarring, Viral hepatitis, Periportal fibro... |
ORPHA:101330 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Episodic tachypnea, Neonatal hypoglycemia, Apneic episodes in... |
ORPHA:348 |
Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia |
OMIM:615538 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... |
ORPHA:228308 |
Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology, Cognitive impairment |
ORPHA:1532 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice |
ORPHA:60 |
Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Joint swelling, Cirrhosis, Congenital hepatic fibro... |
ORPHA:139491 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Hepatomegaly, Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial morphology... |
OMIM:612387 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism, Nonimmune hydrops... |
OMIM:212065 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... |
ORPHA:70589 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhosis, Macrovesicular ... |
OMIM:256810 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Mental deterioration, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, ... |
OMIM:617575 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Adrenal insufficiency, Decreased circulating cortisol level |
OMIM:103230 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... |
ORPHA:228305 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Steatorrhea, Abnormal se... |
ORPHA:79303 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Central sleep apnea, Progressive neurologic deterioration, Hepatic stea... |
ORPHA:70472 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... |
OMIM:277900 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega... |
OMIM:235200 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... |
ORPHA:369840 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia |
ORPHA:411515 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... |
OMIM:238600 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Accessory spleen, Eleva... |
OMIM:300972 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Respiratory insufficiency, Abnormal brainstem MRI signal intensity |
ORPHA:263410 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Multiple joint contractures, Decreased serum testosterone concentration... |
ORPHA:2959 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... |
OMIM:614921 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Hyperammonemia, Cirrhosis, Elevated alpha-fetoprotein, Elevated circulating aspa... |
OMIM:617049 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cholestasis, Bile duct proliferation, Respiratory failure, Cirrhosis, Abnormal pulmonary intersti... |
OMIM:613658 |
Chylomicron Retention Disease |
|
Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hepatocellular lipid d... |
ORPHA:71 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
OMIM:212138 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity |
ORPHA:791 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Glycosuria, Decreased DLCO, Emph... |
OMIM:618913 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Ddost-Cdg |
|
Primary hypothyroidism, Elevated hepatic transaminase, Lipodystrophy, Hepatic steatosis |
ORPHA:300536 |
6Q16 Microdeletion Syndrome |
|
Polyphagia |
ORPHA:171829 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Cirrhosis, Emphysema, Portal hypertension, Hepatic failure |
OMIM:210050 |
3-Methylglutaconic Aciduria Type 7 |
|
Neonatal hypoglycemia, Hypothyroidism, Elevated hepatic transaminase, Respiratory failure, Pneumo... |
ORPHA:445038 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Short term memory impairment, Hypertriglyceridemia, Xant... |
OMIM:277460 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hypothyroidism, Hepatic fibr... |
OMIM:616263 |
Graves Disease, Susceptibility To, 1 |
|
Polyphagia |
OMIM:275000 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia |
OMIM:615986 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Flexion contracture, Dehydration, Polyhydramnios, Recurrent pneumonia, Neon... |
OMIM:616271 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Tachypnea, Hypoglycemia, Increased hepatocellular lipid droplet... |
OMIM:220111 |
Huntington Disease |
|
Polyphagia, Choking episodes, Oral-pharyngeal dysphagia |
ORPHA:399 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Acute hepatic failure, Elevated... |
ORPHA:99901 |
Galloway-Mowat Syndrome 7 |
|
Edema, Hypercholesterolemia |
OMIM:618348 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis |
OMIM:300270 |
Smith-Magenis Syndrome |
|
Precocious puberty, Hypothyroidism, Hypertriglyceridemia, Delayed puberty, Hypercholesterolemia |
ORPHA:819 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Abnormal brainstem morphology |
ORPHA:2382 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Hyperlipidemia, Hypothyroidism, Arthrogryposis multiplex congenita, Cryptorch... |
ORPHA:254346 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Emphysema |
ORPHA:171719 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Temple Syndrome |
|
Polyphagia |
ORPHA:254516 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Agenesis of corpus callosum, Abnormal circulating pyruvate family amino acid concentration, Abnor... |
ORPHA:255182 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity |
ORPHA:3085 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoketotic hypoglycemia, Hypoglycemic seizures, Hepatic necrosis, Hep... |
OMIM:231530 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbu... |
OMIM:618805 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis |
OMIM:614924 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Hypon... |
ORPHA:199296 |
Aromatase Deficiency |
|
Hyperlipidemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Macroorchidism, postpu... |
ORPHA:91 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia |
ORPHA:156 |
Dpm1-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Pontocerebe... |
ORPHA:79322 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... |
ORPHA:90041 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating androgen concentration, Elevate... |
ORPHA:90796 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Corneal stromal ed... |
ORPHA:699 |
Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension |
ORPHA:1164 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Weakness of muscles of respiration, Elevated circulating creatine kinase concentration, Hepatic s... |
ORPHA:52430 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis |
OMIM:615918 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Bilateral lung agenesis, Pulmonary hypoplasia, Pulmonary artery ... |
OMIM:611812 |
Wilson Disease |
|
Joint swelling, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic tr... |
ORPHA:905 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Respiratory insufficiency, Macrovesicular hepatic steatosis, Progressiv... |
OMIM:618329 |
20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia, Camptodactyly |
ORPHA:444051 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Mental deterioration, Hypergonadotropic hyp... |
ORPHA:273 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... |
OMIM:618641 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Increased circ... |
OMIM:131100 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... |
ORPHA:98908 |
Megalocornea-Mental Retardation Syndrome |
|
Primary hypothyroidism, Hypercholesterolemia |
OMIM:249310 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating aspartate aminot... |
OMIM:619534 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Nonimmu... |
OMIM:618838 |
2Q23.1 Microdeletion Syndrome |
|
Polyphagia |
ORPHA:228402 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Neoplasm of the lung, Abnormali... |
ORPHA:2126 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Lipoatrophy, Type II diabetes mellitus, Ovarian neoplasm, Chondrocalcinosis, Ge... |
ORPHA:79474 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Hypercholesterolemia |
ORPHA:2479 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Elevate... |
ORPHA:98907 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cognitive impairment, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle di... |
ORPHA:300573 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatic failure... |
OMIM:619573 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Elevated circulating creatine kinase concentration, Abnor... |
ORPHA:370022 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis, Nasal polyposis |
OMIM:604571 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Cirrhosis, Hypogonadotropic hypogonadism, Macrovesicular hepatic ... |
ORPHA:298 |
Schaaf-Yang Syndrome |
|
Polyphagia |
OMIM:615547 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... |
ORPHA:263455 |
Spinocerebellar Ataxia Type 1 |
|
Cognitive impairment, Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology... |
ORPHA:98755 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Hepatomegaly, Splenomegaly, Cough, Angioedema, Pleural effusion, Emphysema, R... |
ORPHA:36412 |
Doors Syndrome |
|
Respiratory distress, Aspiration pneumonia, Congenital hypothyroidism, Adrenal hyperplasia, Polyh... |
ORPHA:79500 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Steatorrhea,... |
ORPHA:14 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Hepatosplenomegaly, Acute pancreatitis, Elevated hepatic transaminase, Hypothyroidi... |
OMIM:619487 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Man1B1-Cdg |
|
Polyphagia |
ORPHA:397941 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
OMIM:606407 |
Monosomy 13Q34 |
|
Insulin resistance, Infantile hypercalcemia, Hepatic steatosis, Epistaxis, Agenesis of corpus cal... |
ORPHA:96168 |
Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute hepatic failure |
OMIM:615438 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Atrophy/Degeneration affecting the brainstem, Elevated circulat... |
ORPHA:66634 |
Trisomy 18P |
|
Polyphagia |
ORPHA:1715 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... |
ORPHA:53693 |
Sitosterolemia 1 |
|
Splenomegaly, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperchol... |
OMIM:210250 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Alagille Syndrome 1 |
|
Exocrine pancreatic insufficiency, Peripheral pulmonary artery stenosis, Hepatic failure, Cirrhos... |
OMIM:118450 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema, Hepatomegaly, Abnormal brainstem morphology |
ORPHA:79279 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin... |
OMIM:618835 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis |
ORPHA:209919 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin... |
OMIM:618839 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Bardet-Biedl Syndrome 20 |
|
Asthma, Pancreatitis, Elevated hepatic transaminase, Male hypogonadism, Hypercholesterolemia, Bil... |
OMIM:619471 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, C... |
OMIM:611126 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia, Hypoketotic hypoglycemia, Respiratory insufficiency, Cholestasi... |
ORPHA:746 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Acute hepatic steatosis, Acute hyperammonemia, Apnea |
OMIM:210200 |
Hypophosphatasia |
|
Respiratory insufficiency, Hypercalcemia, Emphysema |
ORPHA:436 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Loss of truncal subcutaneous adipose ... |
OMIM:608612 |
Achondroplasia |
|
Upper airway obstruction, Brain stem compression |
OMIM:100800 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Decreased testicular size, Hypercholesterolemia |
OMIM:610644 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, Macrov... |
OMIM:613070 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr... |
OMIM:246200 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Lipid accumulation in hepatocytes, Hepatomegaly, Hyperammonemia, Dehydration, Tachypnea, A... |
ORPHA:20 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hydrocele testis, Exocrine pancreatic insufficiency... |
OMIM:619991 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Apnea, Hypoglycemia, Adrenal hypoplasia, Hyponatremia, Hyperkalemia |
OMIM:240200 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent bronchopulmonary infections, Flexion contracture, S... |
OMIM:617303 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Increased circulating prolactin concentration, Central diabetes insipidus, Hyperglycemia, Recurre... |
ORPHA:293987 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Hepatic steatosis |
OMIM:236200 |
Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia |
ORPHA:2849 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Joint swelling, Hypophosphatemia, Hypokalemi... |
ORPHA:534 |
Bloom Syndrome |
|
Type II diabetes mellitus, Elevated hemoglobin A1c, Recurrent upper respiratory tract infections,... |
OMIM:210900 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Abnormal brainstem mo... |
ORPHA:370959 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Hepatomegaly, Flexion contracture, Hypoglycemia, Elevated hepatic tr... |
ORPHA:17 |
Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Pontocerebellar atrophy, Lipodyst... |
OMIM:619273 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hamstring contractures, Abnormal circulating fatty-acid concentration, Decreased circulating cort... |
ORPHA:139396 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Primary adrenal insuffici... |
OMIM:261515 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hypoglycemia, Elevated hepa... |
OMIM:232200 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Pediatric-Onset Graves Disease |
|
Polyphagia, Polydipsia |
ORPHA:525731 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Decreased circulating renin level, Abnormality of circul... |
ORPHA:320 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Episodic tachypnea, Apneic episodes in infancy, Abnormal brainstem morphology |
ORPHA:163961 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Recurrent lower respira... |
OMIM:615846 |
Acute Adrenal Insufficiency |
|
Decreased circulating aldosterone level, Decreased circulating cortisol level, Increased circulat... |
ORPHA:95409 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Aplasia of the thymus, Hepatosplenomegaly, Recurrent pneum... |
OMIM:242700 |
3-Methylglutaconic Aciduria, Type V |
|
Cryptorchidism, Microvesicular hepatic steatosis, Decreased testicular size |
OMIM:610198 |
Luscan-Lumish Syndrome |
|
Polyphagia |
OMIM:616831 |
Osteootohepatoenteric Syndrome |
|
Asthma, Hypokalemia, Microvesicular hepatic steatosis, Dehydration, Cholestasis, Hepatic fibrosis... |
OMIM:619377 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morpholog... |
ORPHA:280195 |
Joubert Syndrome 7 |
|
Episodic tachypnea, Tachypnea, Central apnea, Neonatal breathing dysregulation, Molar tooth sign ... |
OMIM:611560 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... |
ORPHA:199299 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Polyphagia |
OMIM:607485 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Hypocholesterolemia, De... |
ORPHA:96180 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Glucose intolerance, Hepatomegaly, Flexion contracture, Elevated hemoglobin A1c, Generalized lipo... |
OMIM:619127 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Flexion contracture, Cognitive impairment, Abnormal brainstem MRI signal intensity, Pontocerebell... |
ORPHA:258 |
Slc35A2-Cdg |
|
Precocious puberty, Increased circulating thyroglobulin level, Camptodactyly of finger, Atrophy/D... |
ORPHA:356961 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Adrenal gland dysgenesis, Abnormal lung lobation, Polyhydramnios, Omphalocele, ... |
OMIM:236680 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia |
OMIM:615812 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Hepatic steatosis |
ORPHA:977 |
Secondary Short Bowel Syndrome |
|
Polyphagia |
ORPHA:95427 |
Arima Syndrome |
|
Hepatomegaly, Tachypnea, Hepatic fibrosis, Dyspnea, Hepatic steatosis, Molar tooth sign on MRI, B... |
OMIM:243910 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... |
ORPHA:93111 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatic steatosis, Hepatomegaly |
OMIM:614922 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Mental deterioration, Microvesicular hepatic steatosis, Hyperammonemia |
OMIM:616672 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Congenital diaphragmatic hernia, Inguinal hernia, Umbilical hernia, Emphysema, Oligohydramnios, R... |
OMIM:219100 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Decreased liver function, Hepatomegaly, Glycosuria, Diffuse hepatic steatosis, Exertional dyspnea... |
ORPHA:436271 |
Gangliocytoma |
|
Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm... |
ORPHA:251937 |
Lymphangioleiomyomatosis |
|
Chylopericardium, Chylothorax, Cognitive impairment, Cough, Shagreen patch, Lymphedema, Restricti... |
ORPHA:538 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Microvesicular hepatic steatosis, Cholestasis, Hypoglycemia, Elevated h... |
OMIM:124000 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Hyperinsulinemia, Type II diabete... |
ORPHA:99413 |
Turner Syndrome |
|
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Hyperinsulinemia, Type II diabete... |
ORPHA:881 |
Mosaic Monosomy X |
|
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Hyperinsulinemia, Type II diabete... |
ORPHA:99228 |
Monosomy X |
|
Glucose intolerance, Cholestatic liver disease, Hyperlipidemia, Hyperinsulinemia, Type II diabete... |
ORPHA:99226 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hepatomegaly, Jaundice, Hyperbilirubinemia, Cirrhosis, Glycosuria, Hypoglycemia... |
OMIM:229600 |
Alström Syndrome |
|
Respiratory distress, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, He... |
ORPHA:64 |
Smith-Lemli-Opitz Syndrome |
|
Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Precocious puberty, Splen... |
OMIM:270400 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
Netherton Syndrome |
|
Asthma, Dehydration, Recurrent respiratory infections, Emphysema |
ORPHA:634 |
Japanese Encephalitis |
|
Respiratory distress, Abnormal pons morphology, Pulmonary edema, Inappropriate antidiuretic hormo... |
ORPHA:79139 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Resp... |
OMIM:618278 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Polyphagia |
OMIM:156200 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia |
ORPHA:251004 |
Ogden Syndrome |
|
Hydrocele testis, Apnea, Pulmonary hypoplasia, Umbilical hernia, Jaundice, Peripheral pulmonary a... |
OMIM:300855 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... |
OMIM:203700 |
Meningioma |
|
Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hypothalamus ... |
ORPHA:2495 |
Angelman Syndrome |
|
Dysphagia, Polyphagia |
ORPHA:72 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Decreased liver function, Apnea, Mental deterioration, Central hypoventilat... |
ORPHA:70474 |
Leigh Syndrome |
|
Multiple joint contractures, Hepatic failure, Abnormal brainstem MRI signal intensity, Progressiv... |
ORPHA:506 |
Addison Disease |
|
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Decreased circulating corti... |
ORPHA:85138 |
Nocardiosis |
|
Respiratory distress, Cellulitis, Nonproductive cough, Peritonitis, Abnormality of the adrenal gl... |
ORPHA:31204 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal pattern of respiration, Cerebral edema, Abnormal brainstem morphology, Abnormal brainste... |
ORPHA:88619 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Polyphagia |
ORPHA:251028 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Polyphagia |
OMIM:612469 |
Fabry Disease |
|
Hyperlipidemia, Chronic pulmonary obstruction, Cognitive impairment, Abnormal circulating lipid c... |
ORPHA:324 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Hypokalemia, Hepatomegaly, Hemobilia, Hyperbilirubinemia,... |
ORPHA:88673 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Corneal scarring, Microvesicular hepatic steatosis, Micronodular cirrhosis, Hepatomegaly, Splenom... |
ORPHA:404454 |
Arnold-Chiari Malformation Type Ii |
|
Apnea, Aqueductal stenosis, Abnormal medulla oblongata morphology, Inspiratory stridor, Partial a... |
ORPHA:1136 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Glycosuria, Hypoglycemia, Elevated hepatic transaminase, Diabetes... |
OMIM:616026 |
Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Asple... |
OMIM:273395 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... |
OMIM:232240 |
Common Variable Immunodeficiency |
|
Splenomegaly, Elevated hepatic transaminase, Recurrent bronchitis, Pneumonia, Emphysema, Bronchie... |
ORPHA:1572 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Abnormal pons morphology, Microvesicular hepatic steatosis, Hepatomegaly, Flexio... |
OMIM:300868 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Mental deterioration, Abnormal medulla oblongata morphology, Progressiv... |
ORPHA:206448 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Facial edema, Thyroid hypoplasia, Umbilical hernia, ... |
ORPHA:226307 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal pons morphology, Sinusitis, Abnormal hypothalamus morphology, Abnormal brainstem MRI sig... |
ORPHA:68 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Decreased liver function, Hepatomegaly, Glycosuria, Increased hepatocellula... |
OMIM:220110 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Asthma, Cryptorchidism, Abnormal brainstem morphology, Increa... |
ORPHA:8 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Sarcoidosis |
|
Hepatomegaly, Hepatic failure, Abnormal pleura morphology, Enlarged lacrimal glands, Enlargement ... |
ORPHA:797 |
Alg12-Cdg |
|
Abnormal adipose tissue morphology, Camptodactyly, Hypocholesterolemia, Hypoalbuminemia, Hyponatr... |
ORPHA:79324 |
Digeorge Syndrome |
|
Cholelithiasis, Decreased circulating parathyroid hormone level, Hydrocele testis, Hypocalcemia, ... |
OMIM:188400 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Increased serum testosterone level, Type II diabetes mellitu... |
ORPHA:3455 |
Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Camptodactyly of finger, Enamel hypoplasia, Bicarbonaturia, Hyperc... |
OMIM:309000 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Polyphagia |
ORPHA:398079 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Dyspnea, Hepatic s... |
ORPHA:391665 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial morphology, Abnormal saliv... |
OMIM:181000 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Polyphagia, Bulimia |
ORPHA:98754 |
Alkuraya-Kucinskas Syndrome |
|
Camptodactyly, Kinked brainstem, Edema, Arthrogryposis multiplex congenita, Pericardial effusion,... |
OMIM:617822 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Polyphagia, Bulimia |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Polyphagia, Bulimia |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Polyphagia, Bulimia |
ORPHA:177901 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Cognitive impairment, Respiratory failure, Paroxysmal dy... |
ORPHA:444013 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Inguinal hernia, Tracheomalacia, Pulmonary hypoplasia, Umbilical hernia, Emphysema, Periorbital e... |
OMIM:613177 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Polyphagia |
ORPHA:398069 |
Weaver Syndrome |
|
Polyphagia |
OMIM:277590 |
Visceral Steatosis, Congenital |
|
Hypoglycemia, Hypocalcemia, Hepatic steatosis, Jaundice |
OMIM:228100 |
Prader-Willi-Like Syndrome |
|
Polyphagia, Bulimia |
ORPHA:398073 |
Meier-Gorlin Syndrome 4 |
|
Cryptorchidism, Breast hypoplasia, Emphysema |
OMIM:613804 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Midline brainstem cleft, Hypoplasia of the pons, Agenesis of corpus callosum |
OMIM:617542 |
Prader-Willi Syndrome |
|
Polyphagia |
OMIM:176270 |
7Q11.23 Microduplication Syndrome |
|
Polyphagia |
ORPHA:96121 |
Loeys-Dietz Syndrome 4 |
|
Pneumothorax, Inguinal hernia, Emphysema |
OMIM:614816 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kin... |
OMIM:615356 |
Prader-Willi Syndrome |
|
Polyphagia |
ORPHA:739 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Elevated circulating creatine kinase concentration, Abnormal brainstem ... |
ORPHA:370997 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Abnormal brainstem MRI signal intensity, Mental deterioration, Respiratory failu... |
ORPHA:83597 |
Semilobar Holoprosencephaly |
|
Abnormality of the endocrine system, Decreased response to growth hormone stimulation test, Flexi... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Abnormality of the endocrine system, Decreased response to growth hormone stimulation test, Flexi... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormality of the endocrine system, Decreased response to growth hormone stimulation test, Flexi... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormality of the endocrine system, Decreased response to growth hormone stimulation test, Flexi... |
ORPHA:93924 |
Meier-Gorlin Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Tracheobronchomalacia, Umbilical hernia, E... |
OMIM:616835 |
Adnp Syndrome |
|
Polyphagia, Oral-pharyngeal dysphagia |
ORPHA:404448 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Episodic tachypnea, Central apnea, Hepatic fibrosis, Neon... |
OMIM:213300 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Apnea, Cholestasis, Thyroid hypoplasia, Joint swelling, Flex... |
OMIM:619503 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse, Peripheral pulmonary artery stenosis, Inguinal hernia, Emphysema, Bronchiectasi... |
OMIM:123700 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Dehydration, Glycosuria, Hypoglycemia, D... |
ORPHA:3337 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Episodic tachypnea, Central apnea, Neonatal breathing dys... |
OMIM:608091 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Inguinal hernia, Respiratory insufficiency, Hernia, Recurre... |
ORPHA:90349 |
Pseudohypoparathyroidism Type 1C |
|
Polyphagia |
ORPHA:79444 |
Craniopharyngioma |
|
Polyphagia |
ORPHA:54595 |
Early-Onset Schizophrenia |
|
Polyphagia |
ORPHA:96369 |
Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Polyhydramnios, Abnormal mi... |
ORPHA:314621 |
Neonatal Marfan Syndrome |
|
Lipoatrophy, Flexion contracture, Hypoxemia, Decreased testicular size, Emphysema, Neonatal respi... |
ORPHA:284979 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Flexion contracture of finger, Cryptorchidism, Abnormal brainstem morphology, Posterior pituitary... |
ORPHA:464311 |
Leprechaunism |
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Reduced subcutaneous adipose tissue, Failure to thrive, Postprandial hyperglycemia, Decreased bod... |
ORPHA:508 |
Familial Cerebral Saccular Aneurysm |
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Abnormal brainstem morphology |
ORPHA:231160 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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