Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma
Synonyms:
N/A

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 Pik3c2g 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pik3c2g by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Hypercholesterolemia, Hypocalcemia... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1 ORPHA:140941
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneou... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-... OMIM:613877
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus, Lipodystrophy OMIM:246650
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Obesity And Hypopigmentation
Hepatic steatosis, Obesity, Hyperinsulinemia, Overgrowth OMIM:620195
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... OMIM:610947
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Lipodystro... OMIM:615238
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi... OMIM:620357
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Loss of truncal subcutaneous adipose tissue, Loss of su... OMIM:608709
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Maturity-onset diabetes of the young, Overweight OMIM:613375
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Lo... ORPHA:435651
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... ORPHA:276575
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hepatomegaly, Lo... OMIM:151660
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, H... ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-... ORPHA:552
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Elevated circulatin... OMIM:617872
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Reduc... ORPHA:363400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Male hypogonadism, Elevated circulating hepatic transaminase concentration,... OMIM:615381
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hypercholesterolemia, Elevated circulating hepatic transaminase concent... OMIM:616829
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperpla... ORPHA:276556
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... ORPHA:79237
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:619048
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Increased circulating ferritin concentration, Glucose intolerance, Impai... OMIM:606069
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous a... ORPHA:2457
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperglycemi... OMIM:615812
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Hype... ORPHA:79083
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Elevated circulating hepatic ... ORPHA:263455
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Elevated circulating acylcarnitine co... ORPHA:26792
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port... OMIM:605814
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hyperinsulinemia, Hepa... ORPHA:79086
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu... ORPHA:2348
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious pube... OMIM:616222
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir... ORPHA:2298
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo... OMIM:618858
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure... OMIM:278000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Dietary Iron Overload Disease
Abnormal adrenal morphology, Increased circulating ferritin concentration, Hepatomegaly, Abnormal... ORPHA:139507
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Hepatic steatosis, Elevated circulating hepatic transaminase con... OMIM:618400
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge... OMIM:606176
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Decreased body w... ORPHA:444490
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c... OMIM:608594
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Perlman Syndrome
Tall stature, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femo... ORPHA:2849
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Obesity, Abnormality of the t... ORPHA:77296
Mpi-Cdg
Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, H... ORPHA:79319
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating he... ORPHA:264580
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... OMIM:617253
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture, Reduced C-peptide level OMIM:618856
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... ORPHA:94086
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancrea... ORPHA:280365
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:607616
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Laron Syndrome
Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypoglycemia, Hypercholest... ORPHA:633
Familial Multiple Lipomatosis
Increased adipose tissue, Hyperlipidemia, Overgrowth, Lipodystrophy, Insulin resistance ORPHA:199276
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Impaired gluconeogenesis, Microvesic... OMIM:212140
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... ORPHA:2089
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c... OMIM:269700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous adipose ti... OMIM:248370
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Patent Ductus Venosus
Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis OMIM:601466
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, ... OMIM:613327
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Knee flexion contracture, Cholestasis, Biliary cirrhosis, Hepatic fibrosis, Hyperam... OMIM:620454
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemi... OMIM:261750
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elbow flexion contracture, Elevate... OMIM:616516
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty, Obesity, Truncal ... ORPHA:96184
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Splenomegaly, Increased circulating ferritin concen... OMIM:603552
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Hepatic fi... OMIM:232400
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Aromatase Deficiency
Tall stature, Hyperlipidemia, Hypergonadotropic hypogonadism, Eunuchoid habitus, Obesity, Type II... ORPHA:91
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Steatorrhea, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypogl... OMIM:602579
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He... OMIM:619013
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir... OMIM:605911
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:228305
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... ORPHA:890
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Hypogonadism, Neonatal hyperbilirubinemia, Insulin resistance, Hypoglycemia, T... ORPHA:73272
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulat... OMIM:617093
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... OMIM:201450
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Increased circulating ferritin concentration, Elevated ci... ORPHA:101330
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Failure to thriv... ORPHA:300536
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, El... OMIM:203800
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... ORPHA:209919
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Short Syndrome
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... OMIM:269880
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Cog4-Cdg
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Fatal liv... ORPHA:263501
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia, Elevated ... OMIM:609812
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Camptodactyly, Failure to thrive, Flexion contracture, Knee flexion co... OMIM:214150
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Abnormal circulating ho... ORPHA:785
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul... OMIM:201475
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... ORPHA:86816
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia OMIM:604484
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hepatic steatosis, Hyperalaninemia OMIM:615918
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:99901
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... OMIM:231530
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp... OMIM:615830
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Hypoglycemia, Acute hepatic steatosis, Acute hyperammonemia OMIM:210200
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:614582
Monosomy 13Q34
Hypercalcemia, Insulin resistance, Obesity, Hepatic steatosis ORPHA:96168
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hepatic failure OMIM:177000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, ... OMIM:619418
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... ORPHA:1414
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly OMIM:613101
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618857
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Short Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Weight loss, Insulin resistanc... ORPHA:3163
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis, Hypogonadism OMIM:615996
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Increased ... OMIM:267700
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ele... OMIM:212138
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pann... OMIM:617591
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorma... ORPHA:369840
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Impaired glucose tolerance... ORPHA:769
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Multiple lipomas, Hepatic steatosis, Hurthle cell thyroid adenoma ORPHA:210548
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Inguinal hernia, Biliary tract abnormality, Obesity, Ty... ORPHA:3191
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... ORPHA:98908
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated circulating hepatic transaminase concentration, Splenomegaly, Abnor... ORPHA:75563
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly OMIM:620603
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M... OMIM:617156
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... ORPHA:300373
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Obesit... ORPHA:90041
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Werner Syndrome
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Elevated hemog... OMIM:277700
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... OMIM:606721
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypochol... ORPHA:71
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Splenomegaly OMIM:620282
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Pituitary hypothyroidism, Incr... ORPHA:90674
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Reni Syndrome
Hypertriglyceridemia, Hypothyroidism, Hypogonadism, Hypoalbuminemia, Hypoglycemia, Adrenal insuff... OMIM:617575
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98855
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Hypercholesterolemia, Abnormality of the thyroid gland OMIM:182290
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Calcinosis, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:90154
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... ORPHA:158057
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Increased circulating ferritin concentr... ORPHA:465508
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... OMIM:614921
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98863
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Decreased body weight, Increas... ORPHA:508
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98853
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperammonemia, Acute... OMIM:615453
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis, Type II diabetes mellitus ORPHA:2377
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Episodic hypokalemia, Increased intramyocellular lipid droplets, Mildly e... ORPHA:681
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Decreas... ORPHA:541423
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... ORPHA:156
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Xanth... ORPHA:79259
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration, Panniculitis, Splenomegaly OMIM:618398
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero... OMIM:300972
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:608836
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Tall stature, Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Failure to thrive, Disproportio... OMIM:236200
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Inguinal hernia, Hypothyroidism, Insulin resistance, Di... OMIM:616541
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Werner Syndrome
Lipoatrophy, Thyroid carcinoma, Slender build, Type II diabetes mellitus, Hypogonadism, Lipodystr... ORPHA:902
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Steatorrhea, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Failure to thriv... OMIM:616263
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Hyperg... OMIM:615710
Lysosomal Acid Lipase Deficiency
Decreased liver function, Xanthelasma, Hypertriglyceridemia, Jaundice, Elevated circulating hepat... ORPHA:275761
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Impaired glucose tolerance, Obesity, Splenomegaly, Hepatic fibrosis, G... OMIM:615630
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive pro... ORPHA:158061
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Glycosuria, Hypoglycemia, Elevated circulati... OMIM:231680
Silver-Russell Syndrome
Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr... ORPHA:813
Whipple Disease
Hepatomegaly, Cachexia, Hypothyroidism, Hyponatremia, Splenomegaly, Insulin resistance ORPHA:3452
Prader-Willi Syndrome
Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp... OMIM:176270
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, I... ORPHA:230
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome... OMIM:603553
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Fasting hypoglyc... OMIM:227810
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hepatic steatosis ORPHA:70472
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... OMIM:607765
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase conc... ORPHA:228308
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Biliary tract abnormality, Obesity, Hypogonadism, Abdominal obesi... OMIM:209900
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Obesity, Type II diabe... ORPHA:254516
H Syndrome
Delayed puberty, Hypertriglyceridemia, Camptodactyly, Hepatosplenomegaly, Lipodystrophy, Hypogona... ORPHA:168569
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... ORPHA:79322
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Omphalocele, Impaired se... OMIM:614450
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Bardet-Biedl Syndrome 9
Obesity, Hyperglycemia, Truncal obesity OMIM:615986
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Hypothyroidism, Precocious puberty, Obesity, Arthrogryposis multiplex congenita, ... ORPHA:254346
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Steator... ORPHA:186
Solitary Fibrous Tumor
Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Weight loss, Recurrent... ORPHA:2126
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micr... ORPHA:98907
Smith-Magenis Syndrome
Delayed puberty, Hypertriglyceridemia, Precocious puberty, Hypothyroidism, Obesity, Failure to th... ORPHA:819
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Diabetes mellitus, Hypogonadotropic hypogonadism OMIM:610628
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypercholesterolemia, Hypothyroidism, Hyperglycemia ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent... OMIM:611126
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity, Type II diabetes mellitus, Abnormality of the thyroid gland, Hypogona... ORPHA:2234
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... OMIM:229600
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Elevated cir... ORPHA:540
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Inguinal hernia, Cholestasis, Portal hypertension, Flexio... ORPHA:440713
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mell... OMIM:210740
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Lipoatrophy, Hyperinsulinemia, Generalized lipody... ORPHA:79474
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Hypocalcemia, Cholestasis, Chronic hepatic failure,... ORPHA:746
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... ORPHA:470
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Exocrine pancreatic insufficiency, ... OMIM:260370
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Decreased H... OMIM:256040
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Reduced subcutaneous adipose tissue... OMIM:609069
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Adrenocortical hypoplasia, Hypogly... OMIM:307030
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Maternal diabetes ORPHA:45452
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Gitelman Syndrome
Delayed puberty, Hypermagnesemia, Neoplasm of the pancreas, Maternal diabetes, Hypokalemia, Hypoc... ORPHA:358
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Abnormal circulating thyro... ORPHA:99832
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferas... OMIM:610198
Osteootohepatoenteric Syndrome
Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Microvesicular hepatic ste... OMIM:619377
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperuricemia, A... ORPHA:20
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... ORPHA:26793
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing... OMIM:613658
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperuricemia, Hyperammonemia, Hyperglycemia, Weight loss, Hypoglycemia ORPHA:134
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Generalized lipodystrophy, Hepatomegaly, Elevated circulating hepatic trans... OMIM:619127
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoplastic spleen, Hypoplasi... OMIM:619313
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... ORPHA:363618
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia, Joint contra... OMIM:175700
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hepatic transamina... ORPHA:445038
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:93111
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Pancreatitis, Obesity, Male hypogonadism... OMIM:619471
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Portal... OMIM:619487
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Diffuse hepatic steatosis ORPHA:436271
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparathyroidism, Obesity, ... OMIM:603233
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232200
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Microvesicular he... ORPHA:66634
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypophosphate... ORPHA:699
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Steatorrhea, De... ORPHA:14
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating creatine kinase concentration ORPHA:52430
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Ventral hernia, Inguinal hernia, Widened atrophic scar, Umbilical hernia, C... ORPHA:536532
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ... ORPHA:96182
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Hypogonadism OMIM:619273
Wilson Disease
Portal fibrosis, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum copper, H... OMIM:277900
Chronic Visceral Acid Sphingomyelinase Deficiency
Delayed puberty, Decreased liver function, Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Abnorma... ORPHA:77293
Bloom Syndrome
Adipose tissue loss, Abdominal obesity, Insulin resistance, Diabetes mellitus, Small for gestatio... ORPHA:125
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Hyponatremia, Hyperglycemia, Peritonitis, Small for gestational age ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis, Hyperammonemia OMIM:616672
Bardet-Biedl Syndrome
Hypertriglyceridemia, Childhood-onset truncal obesity, Decreased HDL cholesterol concentration, I... ORPHA:110
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Increased serum pyr... ORPHA:3008
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Decreased circulating chenodeoxycholic acid concentration, Periportal fibrosis, Elev... OMIM:619481
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Congen... ORPHA:226313
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hepatic steatosis, Flexion contracture OMIM:616271
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly OMIM:619802
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr... OMIM:614924
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Pancreatic hypoplasia, Glycosuria, Failure to thrive, Reduced pancr... ORPHA:99885
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Impaired glucose tolerance, Obesity, Pituitary adenoma, Abdominal obesity, Increased... OMIM:219090
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Methylmalonic acidemia, Fa... ORPHA:17
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase conc... ORPHA:157
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:261515
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Increased intramyocellular... OMIM:220110
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy... OMIM:619991
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating C-reactive protei... OMIM:619573
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Splenomega... OMIM:210250
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Hepatic steatosis, Type II diabetes mellitus OMIM:210900
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatoc... OMIM:118450
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232220
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Griscelli Syndrome Type 2
Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly ORPHA:79477
Senior-Loken Syndrome 9
Obesity, Cholestasis, Hepatic fibrosis, Hypogonadism OMIM:616629
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Primary adrenal insuffi... ORPHA:261476
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99413
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99226
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Hypocalcemi... OMIM:618183
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot... ORPHA:79102
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... ORPHA:158048
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Hepatic steatosis OMIM:614922
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inguinal hernia, Elevated ... OMIM:619525
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia ORPHA:2479
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypotriglyceridemia, Micro... ORPHA:404454
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Hyperlipidemia, Elevated circulating creatine kinase concentration, D... ORPHA:565612
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia, Small for gestational age OMIM:256300
Neuhauser Syndrome
Primary hypothyroidism, Hypercholesterolemia OMIM:249310
Sotos Syndrome
Neonatal hypoglycemia, Tall stature, Increased body weight, Overgrowth, Prolonged neonatal jaundi... OMIM:117550
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular c... OMIM:232240
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypoparathyroidism, Precocious puberty, Obesity, Hypercalcemia ORPHA:369837
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Flexion contracture, Splenomegaly, Hypoalbuminemia OMIM:617303
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Loss of... ORPHA:3455
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Cushing Disease
Increased urinary cortisol level, Increased body weight, Impaired glucose tolerance, Adrenal hype... ORPHA:96253
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Chédiak-Higashi Syndrome
Decreased liver function, Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transamina... ORPHA:167
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Hypoplasia of the ovary, Flexion contracture, Abdominal obesity, Hepatic steatosis OMIM:619321
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Inguinal hernia, Pancreatic hypoplasia, Aplasia... OMIM:600001
Sheehan Syndrome
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:91355
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia ORPHA:439232
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi... OMIM:300868
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly ORPHA:31150
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Hypernatremia, Hyperglycemia, Hypoglycemia, Hyperglycinemia OMIM:620423
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Inguina... ORPHA:534
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Increased body weight, Central hypothyroidism, Absence... ORPHA:398069
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, S... OMIM:619534
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevate... OMIM:615356
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... ORPHA:99889
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hepatitis, Hypothyroidism, Splenomegaly, Weight loss, Increased circulating ferriti... OMIM:615846
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Failu... OMIM:220111
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hyperlipidemia, Hypergonadotropic... OMIM:241080
Generalized Pustular Psoriasis
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... ORPHA:247353
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Unconjugated hyperbilirubinemia, Failure to thriv... OMIM:618278
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly OMIM:612291
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... ORPHA:79318
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... ORPHA:740
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Corneal scarring, Elevated circulating creatine kinase concentration, Enamel hypo... OMIM:309000
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Perlman Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell h... OMIM:267000
Digeorge Syndrome
Cholelithiasis, Inguinal hernia, Hypocalcemia, Hypoplasia of the thymus, Femoral hernia, Hypothyr... OMIM:188400
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Hypertriglyceridemia, Increased serum testosterone level, Hypoplasia of the thymus, ... OMIM:264090
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus, Obesity, Dentinogenesis imperfecta OMIM:619269
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Pancreatitis, Hyperlipidemia, Failure to thrive, Small for ges... ORPHA:1830
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Precocious puberty, Failure to thrive, Elevat... OMIM:270400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Jaundice, Elevated circulating hepatic transaminase concentration, Hyperbilirubi... OMIM:619475
Ogden Syndrome
Jaundice, Maternal diabetes, Macrovesicular hepatic steatosis, Inguinal hernia, Microvesicular he... OMIM:300855
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypoglycemia, Tall stature, ... ORPHA:116
1P36 Deletion Syndrome
Annular pancreas, Hypothyroidism, Failure to thrive, Obesity, Camptodactyly of finger, Abnormalit... ORPHA:1606
Arima Syndrome
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:243910
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Small pituitary gland, Inguinal hernia, Hy... OMIM:619503
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Scorpion Envenomation