Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hydroxysteroid 11-beta dehydrogenase 1
Synonyms:
11beta-HSD-1,  11beta-hydroxysteroid dehydrogenase type 1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hsd11b1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hsd11b1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662

The table below shows human diseases predicted to be associated to Hsd11b1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Flexion contracture of finger, Cryptorchidism, Abnormal brainstem morphology, Posterior pituitary... ORPHA:464311
Leprechaunism
Reduced subcutaneous adipose tissue, Failure to thrive, Postprandial hyperglycemia, Decreased bod... ORPHA:508
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Developmental Delay, Impaired Speech, And Behavioral Abnormalities