Gene: Mc4r MGI:99457

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

melanocortin 4 receptor

Synonyms:

Fatboy, Pkcp

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 Mc4r 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.

Human diseases associated with Mc4r (2 diseases)
Human diseases predicted to be associated with Mc4r (917 diseases)

The table below shows human diseases associated to Mc4r by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Obesity Due To Melanocortin 4 Receptor Deficiency		Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Obesity, Child...	ORPHA:71529
Body Mass Index Quantitative Trait Locus 20		Polyphagia, Tall stature, Increased bone mineral density, Obesity, Hyperinsulinemia	OMIM:618406

The table below shows human diseases predicted to be associated to Mc4r by phenotypic similarity.

Disease	Matching phenotypes	Source
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Bulimia Nervosa, Susceptibility To	Bulimia	OMIM:607499
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Lipomatosis, Multiple Symmetric	Lipoma	OMIM:151800
Lipomatosis, Multiple	Multiple lipomas	OMIM:151900
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity	OMIM:616521
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Obesity, Child...	ORPHA:71529
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613370
Glycogen Storage Disease Vi	Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco...	OMIM:232700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Large for gestational age	OMIM:240900
Macrosomia Adiposa Congenita	Obesity, Polyphagia, Large for gestational age	OMIM:248100
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Tall stature, Increased bone mineral density, Obesity, Hyperinsulinemia	OMIM:618406
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami...	OMIM:306000
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h...	OMIM:614480
Diabetes Mellitus, Transient Neonatal, 1	Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus	OMIM:601410
Glycogen Storage Disease 0, Liver	Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia	OMIM:240600
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Pituitary...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Pituitary...	ORPHA:71526
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Maternal diabetes, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Exce...	ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,...	ORPHA:276575
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, ...	ORPHA:276556
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia, Polyphagia	ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Exce...	ORPHA:276580
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:616829
Obesity Due To Sim1 Deficiency	Polyphagia, Glucose intolerance, Obesity, Attention deficit hyperactivity disorder, Hyperinsulinemia	ORPHA:369873
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
Leptin Deficiency Or Dysfunction	Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Primary amenorrhea, O...	OMIM:614962
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno...	ORPHA:293964
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia	OMIM:613886
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit...	ORPHA:280356
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Adrenal insufficiency, Polyphagia, Hypoglycemic seizures, Hyperbilirubinemia, Gonadotropin defici...	OMIM:609734
Macrosomia With Microphthalmia, Lethal	Large for gestational age	OMIM:248110
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati...	OMIM:601820
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:619658
Bardet-Biedl Syndrome 12	Obesity	OMIM:615989
Summitt Syndrome	Obesity	OMIM:272350
Hemochromatosis, Type 2B	Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega...	OMIM:613313
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I...	ORPHA:435660
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased...	OMIM:615703
Neonatal Hemochromatosis	Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c...	ORPHA:446
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam...	OMIM:271500
Bardet-Biedl Syndrome 22	Obesity, Polyphagia, Large for gestational age	OMIM:617119
Obesity Due To Congenital Leptin Deficiency	Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar...	ORPHA:66628
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro...	ORPHA:79085
Leptin Receptor Deficiency	Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mellitus, Hypergonadotro...	OMIM:614963
Hemochromatosis, Neonatal	Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hypoglycemia, Hep...	OMIM:231100
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci...	OMIM:616828
Obesity Due To Leptin Receptor Gene Deficiency	Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar...	ORPHA:179494
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
African Iron Overload	Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,...	ORPHA:139507
Lysosomal Acid Lipase Deficiency	Adrenal insufficiency, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Reduced lyso...	OMIM:278000
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ...	OMIM:603471
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia...	ORPHA:435651
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content...	ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level...	OMIM:619662
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili...	OMIM:616278
Glycogen Storage Disease Iii	Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas...	OMIM:232400
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age	OMIM:618858
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Abdominal obesity, Truncal obesity	OMIM:618160
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Prader-Willi Habitus, Osteopenia, And Camptodactyly	Obesity, Joint contracture of the hand, Camptodactyly	OMIM:264010
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas...	OMIM:615980
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Increased circulating T4 level, Fasting hypoglycemia, Decreased circulating free T3, Elevated cir...	ORPHA:171706
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Hyperglycemia, Glucose intolerance	OMIM:307500
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Diabetes mel...	OMIM:610717
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Microvesicular hepatic steatosis, Hypoglycemia, Ascites, Failure to thrive, Cirrhosis, Cholestasi...	OMIM:617156
Insulinoma	Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia...	ORPHA:97279
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosp...	OMIM:612526
Coronary Artery Disease, Autosomal Dominant 2	Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypercholesterolemia, Diab...	OMIM:610947
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa...	OMIM:602579
Narcolepsy Type 1	Obesity	ORPHA:2073
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz...	OMIM:610021
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Cirrhosis, Hyperc...	OMIM:605814
Mpi-Cdg	Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver...	ORPHA:79319
Acromegaloid Facial Appearance Syndrome	Large for gestational age	OMIM:102150
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur...	ORPHA:75234
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse...	ORPHA:99886
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch...	ORPHA:79506
Lipodystrophy, Familial Partial, Type 5	Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis	OMIM:615238
Hyperinsulinemic Hypoglycemia, Familial, 5	Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609968
Type 1 Diabetes Mellitus	Hyperglycemia, Polyphagia, Diabetes mellitus, Polydipsia	OMIM:222100
Hyperinsulinemic Hypoglycemia, Familial, 3	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus	OMIM:602485
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity, Insulin resistance	ORPHA:140941
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Failure to thrive, Hyp...	ORPHA:71212
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus	OMIM:610582
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c...	ORPHA:276608
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, I...	OMIM:300635
Hemochromatosis Type 4	Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir...	ORPHA:139491
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp...	ORPHA:79299
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic...	ORPHA:436182
Hepatocellular Carcinoma	Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma	OMIM:114550
Bardet-Biedl Syndrome 6	Obesity, Diabetes mellitus	OMIM:605231
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Cirrhosis, Familial	Cirrhosis, Chronic active hepatitis, Hepatitis	OMIM:118900
Temple Syndrome	Type II diabetes mellitus, Polyphagia, Small for gestational age, Recurrent hypoglycemia, Obesity...	ORPHA:254516
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity	OMIM:309585
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure	OMIM:261650
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Small for gestational age, Diabetes mellitus, Type I diabetes mellitus	OMIM:606176
Insulin Autoimmune Syndrome	Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h...	ORPHA:411593
Hemochromatosis, Type 4	Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C...	OMIM:606069
Complement Component 4B Deficiency	Chronic active hepatitis	OMIM:614379
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli...	ORPHA:79084
Hemochromatosis Type 2	Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic...	ORPHA:79230
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia	OMIM:613877
Combined Oxidative Phosphorylation Deficiency 16	Elevated hepatic transaminase, Microvesicular hepatic steatosis	OMIM:615395
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Bardet-Biedl Syndrome 9	Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity, Irregular menstruation	OMIM:615986
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Hyperinsulinemic Hypoglycemia, Familial, 4	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609975
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Acth-Independent Macronodular Adrenal Hyperplasia 2	Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ...	OMIM:615954
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Hepatocellular necrosis, Ascites, Failure ...	OMIM:251880
Combined Oxidative Phosphorylation Deficiency 52	Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen...	OMIM:619386
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen...	OMIM:604367
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru...	OMIM:214950
Coach Syndrome 2	Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulating creatinine c...	OMIM:619111
Cyanosis And Hepatic Disease	Hepatitis, Abnormal abdomen morphology	OMIM:219400
Pediatric Hepatocellular Carcinoma	Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis	ORPHA:33402
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Patent Ductus Venosus	Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia	OMIM:601466
Hypoglycemia, Leucine-Induced	Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Prader-Willi Syndrome Due To Imprinting Mutation	Obesity, Polyphagia	ORPHA:177910
Carcinoma Of Esophagus	Weight loss, Dysphagia, Obesity	ORPHA:70482
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,...	OMIM:613812
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper...	OMIM:607765
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f...	ORPHA:567983
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Large for gestational age	ORPHA:356996
Citrullinemia Type Ii	Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc...	ORPHA:247585
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat...	ORPHA:209902
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Hyperalaninemia, ...	OMIM:619048
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat...	OMIM:617872
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia, Skin rash	OMIM:619175
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly	OMIM:616719
Halothane Hepatitis	Viral hepatitis, Hepatitis, Obesity, Jaundice	OMIM:234350
Galactokinase Deficiency	Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype...	ORPHA:79237
Porphyria Cutanea Tarda, Type I	Eczema, Hepatic fibrosis	OMIM:176090
Low Phospholipid-Associated Cholelithiasis	Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli...	ORPHA:69663
Congenital Generalized Lipodystrophy	Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy...	ORPHA:528
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ...	ORPHA:370
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Osteoporosis, Primary amenorrhea, Delayed thelarche, Delayed puberty	OMIM:616033
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Polyphagia, Tall stature, Umbilical hernia, Insulin-resistant diabetes mellitus at ...	OMIM:608594
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity	ORPHA:411515
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu...	OMIM:262190
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Mody	Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole...	ORPHA:552
Hyperostosis Frontalis Interna	Obesity, Diabetes mellitus	OMIM:144800
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
X-Linked Acrogigantism	Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s...	ORPHA:300373
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Polyphagia, Tall stature, Umbilical hernia, Insulin-resistant diabetes mellitus at ...	OMIM:269700
Cholestasis, Progressive Familial Intrahepatic, 6	Periportal fibrosis, Failure to thrive, Elevated gamma-glutamyltransferase level, Conjugated hype...	OMIM:619484
Insulinomatosis And Diabetes Mellitus	Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai...	OMIM:147630
Bardet-Biedl Syndrome 5	Obesity	OMIM:615983
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell...	ORPHA:2457
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,...	ORPHA:263455
Fadd-Related Immunodeficiency	Decreased liver function, Hepatic fibrosis	ORPHA:306550
Liver Failure, Infantile, Transient	Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato...	OMIM:613070
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Inflammatory abnormality of the skin, Hypoproteinemia, Hepatomegaly, Hypoketotic hypoglycemia, Pn...	ORPHA:26793
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Abnormal ery...	ORPHA:264580
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi...	ORPHA:363400
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s...	ORPHA:280365
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo...	ORPHA:79644
Cubitus Valgus With Mental Retardation And Unusual Facies	Truncal obesity	OMIM:300471
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Hepatitis, Hepatic failure, Jaundice	ORPHA:60
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Bardet-Biedl Syndrome 19	Obesity	OMIM:615996
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi...	OMIM:255120
Syndromic X-Linked Intellectual Disability 7	Obesity	ORPHA:85274
Hypothyroidism, Congenital, Nongoitrous, 8	Decreased circulating free T4 level, Central hypothyroidism, Hypercholesterolemia, Inappropriatel...	OMIM:301033
Insulin-Resistance Syndrome Type B	Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res...	ORPHA:2298
Estrogen Resistance	Glucose intolerance, Impaired glucose tolerance, Osteopenia, Primary amenorrhea, Hyperinsulinemia	OMIM:615363
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Portal in...	OMIM:613759
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Hepatic steatosis	OMIM:615595
Growth Hormone Insensitivity Syndrome	Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv...	ORPHA:181393
Carnitine Deficiency, Systemic Primary	Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Cardiomegaly, ...	OMIM:212140
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi...	OMIM:600649
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria	OMIM:618857
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Cirrhosis, Hepatic fibrosis, Cholestasis	OMIM:609313
Dysplasia Epiphysealis Hemimelica	Overgrowth	OMIM:127800
Graves Disease, Susceptibility To, 1	Polyphagia, Goiter, Weight loss, Hyperactivity, Graves disease	OMIM:275000
6Q16 Microdeletion Syndrome	Obesity, Polyphagia	ORPHA:171829
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Congenital Bile Acid Synthesis Defect Type 2	Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil...	ORPHA:79303
Hyperlipoproteinemia, Type Id	Hepatomegaly, Failure to thrive, Hyperlipoproteinemia, Splenomegaly, Colitis	OMIM:615947
Huntington Disease	Gait disturbance, Dystonia, Gait imbalance, Polyphagia, Decreased body mass index, Choking episod...	ORPHA:399
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder...	ORPHA:35878
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat...	ORPHA:79240
Congenital Disorder Of Glycosylation, Type Iir	Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva...	OMIM:301045
Mental Retardation, X-Linked 91	Obesity	OMIM:300577
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia, Elevated circulating acylcarnitine co...	ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Hypoglycemia	OMIM:617950
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos...	OMIM:614300
Hypotonia-Cystinuria Syndrome	Polyphagia, Failure to thrive, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Decreased r...	OMIM:606407
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Gallbladder Disease 1	Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir...	OMIM:600803
Porphyria Cutanea Tarda	Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa...	ORPHA:101330
Interstitial Lung And Liver Disease	Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperammonemia, Cirrhosis, Hepatic steatosis, ...	OMIM:615486
Estrogen Resistance Syndrome	Overgrowth, Tall stature, Glucose intolerance, Absence of pubertal development, Osteoporosis, Del...	ORPHA:785
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Immunodeficiency 61	Obesity	OMIM:300310
Congenital Isolated Acth Deficiency	Hyponatremia, Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient...	ORPHA:199296
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hernia of the abdominal wall, Obesity	ORPHA:3055
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c...	OMIM:207750
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Caroli Disease	Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight loss, Cholelithi...	ORPHA:53035
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating...	OMIM:618805
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Failure to thrive, Hepatitis, Decreased serum iron, Cirr...	OMIM:614602
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hepatic fibrosis, Hypogonadism, Cholestasis, Obesity	OMIM:616629
Wilson Disease	Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Arthritis, Acute hepatitis, Splenomegaly...	ORPHA:905
Sim1-Related Prader-Willi-Like Syndrome	Lethargy, Central hypothyroidism, Infertility, Type II diabetes mellitus, Polyphagia, Failure to ...	ORPHA:398079
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Necrotizing enterocolitis, Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine k...	OMIM:201475
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
Macrophage Activation Syndrome	Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a...	ORPHA:158061
Retinitis Pigmentosa 89	Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis	OMIM:618955
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis...	OMIM:618641
Pediatric-Onset Graves Disease	Hepatomegaly, Increased circulating T4 level, Episcleritis, Goiter, Polyphagia, Puberty and gonad...	ORPHA:525731
Nephronophthisis 19	Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis	OMIM:616217
Lipodystrophy, Familial Partial, Type 2	Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s...	OMIM:151660
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus	OMIM:618856
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase	OMIM:617093
Bile Acid Malabsorption, Primary, 2	Decreased circulating chenodeoxycholic acid concentration, Elevated gamma-glutamyltransferase lev...	OMIM:619481
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatic steatosis, Abnormal circulating creatine kinase concentrat...	ORPHA:369840
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration	ORPHA:209919
Perlman Syndrome	Hepatomegaly, Tall stature, Capillary hemangioma, Inguinal hernia, Abnormal pancreas morphology, ...	ORPHA:2849
Alstrom Syndrome	Chronic active hepatitis, Hepatomegaly, Decreased HDL cholesterol concentration, Tubulointerstiti...	OMIM:203800
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Dysphagia, Insulin resistance, Elevated circulating creatine kinase concentration, ...	OMIM:613327
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Bdv Syndrome	Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad...	OMIM:619326
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus...	ORPHA:98754
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis	ORPHA:466794
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Reduced carnitine O-palm...	ORPHA:228305
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ch...	OMIM:615630
Isolated Biliary Atresia	Acholic stools, Splenomegaly, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosph...	ORPHA:30391
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Obesity, Type II diabetes mellitus	ORPHA:2377
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al...	ORPHA:247598
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus...	ORPHA:98793
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Unsteady gait, Type II diabetes mellitus	OMIM:520000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Hepatitis, Splenomegaly	ORPHA:444463
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Tubulointerstitial nephritis, Failure to thrive, Hyperalaninemia, Elevated gamma-gl...	OMIM:614582
Galactosemia Iii	Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Aminoaciduria, Jaundice	OMIM:230350
Donohue Syndrome	Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Pancreatic islet-cell...	OMIM:246200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus...	ORPHA:177901
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Hypercholester...	OMIM:606721
Secondary Short Bowel Syndrome	Central hypothyroidism, Polyphagia, Failure to thrive, Weight loss, Primary hypothyroidism, Steat...	ORPHA:95427
Primary Biliary Cholangitis	Abnormality of the intrahepatic bile duct, Hypoalbuminemia, Hepatic fibrosis, Hepatocellular carc...	ORPHA:186
Mitochondrial Complex I Deficiency, Nuclear Type 11	Macrovesicular hepatic steatosis, Hepatomegaly, Failure to thrive	OMIM:618234
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Retinitis Pigmentosa	Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia	ORPHA:791
Autoimmune Hepatitis	Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Ascites, Fulmi...	ORPHA:2137
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Hypoglycemia, Hepatic steatosis, Hyperglycinuria, Elevated hepatic transaminase, De...	OMIM:201450
Hyperinsulinemic Hypoglycemia, Familial, 6	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia	OMIM:606762
Body Mass Index Quantitative Trait Locus 19	Obesity	OMIM:617885
Hepatoportal Sclerosis	Hepatocellular carcinoma, Ascites, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver,...	ORPHA:64743
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Secondary amenorrhea, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperin...	ORPHA:3085
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Eczema, Failure to thrive, Elevated circulating creatine kinase concentration, Elev...	OMIM:615895
Schaaf-Yang Syndrome	Failure to thrive in infancy, Polyphagia, Hypogonadism, Inability to walk, Obesity	OMIM:615547
Gracile Syndrome	Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatos...	ORPHA:53693
Dysbetalipoproteinemia	Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, G...	ORPHA:412
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Interface hepatitis, Elevated serum transaminases during infections...	OMIM:611182
Chromosome Xq26.3 Duplication Syndrome	Overgrowth, Increased serum insulin-like growth factor 1, Polyphagia, Tall stature, Pituitary ade...	OMIM:300942
Acquired Generalized Lipodystrophy	Hepatomegaly, Astrocytoma, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circ...	ORPHA:79086
Hepatitis, Fulminant Viral, Susceptibility To	Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr...	OMIM:618549
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cachexia, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiom...	ORPHA:42
Temple Syndrome	Small for gestational age, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal ...	OMIM:616222
Morm Syndrome	Truncal obesity	ORPHA:75858
Prader-Willi Syndrome	Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Infertility, Poly...	OMIM:176270
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug...	OMIM:214900
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Failure to thrive, Right ventricular hypertrophy, Arthrogryposis multiplex ...	OMIM:613404
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Failure to thrive, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia	ORPHA:2089
Beta-Thalassemia	Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Hepatitis, Cholelit...	ORPHA:848
Prader-Willi-Like Syndrome	Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus...	ORPHA:398073
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia	OMIM:603813
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypothyroidism, Hyp...	OMIM:619013
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increased hepatic glyco...	OMIM:614921
Primary Sclerosing Cholangitis	Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve...	ORPHA:171
Symptomatic Form Of Hemochromatosis Type 1	Testicular atrophy, Lethargy, Infertility, Amenorrhea, Hyperglycemia, Hypogonadotropic hypogonadi...	ORPHA:465508
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Hepatomegaly, Dysphagia, Elevated hepatic transaminase	OMIM:264470
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Pericarditis, Abnormal circulating lipid concentration, Hepatitis, Art...	ORPHA:829
Central Precocious Puberty	Obesity, Overgrowth, Increased body weight	ORPHA:759
Narcolepsy 7	Obesity	OMIM:614250
Nephronophthisis 15	Obesity	OMIM:614845
Autosomal Agammaglobulinemia	Sinusitis, Agammaglobulinemia, Bronchiectasis, Chronic otitis media, Failure to thrive, Verrucae,...	ORPHA:33110
Congenital Bile Acid Synthesis Defect Type 4	Type II diabetes mellitus, Giant cell hepatitis, Elevated circulating creatine kinase concentrati...	ORPHA:79095
Prader-Willi Syndrome	Central hypothyroidism, Central adrenal insufficiency, Infertility, Polyphagia, Failure to thrive...	ORPHA:739
Hyperlipidemia, Familial Combined, 3	Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration...	OMIM:144250
X-Linked Agammaglobulinemia	Sinusitis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chronic otitis media, Failu...	ORPHA:47
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Bardet-Biedl Syndrome 16	Obesity	OMIM:615993
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Hepatic fibrosis, Hypergonadotropic hypogonadism, Hypocholesterolemia, Decreased ci...	OMIM:212065
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Decreased serum zinc, Esophagitis, Hepatic steatosis, Hepatosplenomegaly, Chole...	ORPHA:541423
Galactose Mutarotase Deficiency	Hepatomegaly, Hypergalactosemia, Failure to thrive, Decreased liver function, Cholestasis, Abnorm...	ORPHA:570422
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He...	OMIM:261680
Immunodeficiency 47	Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, C...	OMIM:300972
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Luscan-Lumish Syndrome	Overgrowth, Polyphagia, Advanced ossification of carpal bones, Obesity, Irregular menstruation	OMIM:616831
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age	ORPHA:2432
Magel2-Related Prader-Willi-Like Syndrome	Lethargy, Central hypothyroidism, Infertility, Type II diabetes mellitus, Polyphagia, Failure to ...	ORPHA:398069
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Insulin resistance, Hypogonadism, Hepatic steatosis, Diabetes mellitus, Hypertrigly...	OMIM:615381
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Reduced bone mineral density, Osteopenia	OMIM:619489
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Fail...	OMIM:256810
Xq27.3Q28 Duplication Syndrome	Failure to thrive, Truncal obesity	ORPHA:261483
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Polyphagia, Abnormal dental enamel morphology, Increased blood urea nitrogen, Memb...	ORPHA:251004
Nephronophthisis 16	Hepatic fibrosis, Enlarged kidney, Cholestasis	OMIM:615382
Primary Pigmented Nodular Adrenocortical Disease	Adrenal hyperplasia, Hyperlipidemia, Increased circulating cortisol level, Cutaneous myxoma, Diab...	ORPHA:189439
Cog4-Cdg	Failure to thrive in infancy, Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, He...	ORPHA:263501
Hepatic Veno-Occlusive Disease	Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Increased body w...	ORPHA:890
Bardet-Biedl Syndrome 2	Obesity, Diabetes mellitus	OMIM:615981
Lipodystrophy, Familial Partial, Type 1	Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu...	OMIM:608600
Pick Disease Of Brain	Polyphagia	OMIM:172700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Failure to thrive, Right ventricular hypertrophy, Arthrogryposis multiplex ...	OMIM:208085
Short Stature-Obesity Syndrome	Obesity	OMIM:269870
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Increased circulating ferritin concentrati...	OMIM:194380
Bardet-Biedl Syndrome 7	Obesity	OMIM:615984
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Hepatic fibrosis, Ascites, Failure to thrive, Weight loss, Left ventr...	OMIM:619487
Dpm1-Cdg	Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Failure to th...	ORPHA:79322
Subaortic Stenosis-Short Stature Syndrome	Type II diabetes mellitus, Abnormal circulating lipid concentration, Acne, Obesity, Biliary tract...	ORPHA:3191
Acquired Partial Lipodystrophy	Hepatic steatosis, Insulin resistance	ORPHA:79087
Abcd Syndrome	Large for gestational age	OMIM:600501
Biemond Syndrome Type 2	Obesity	ORPHA:141333
Combined Oxidative Phosphorylation Deficiency 15	Obesity	OMIM:614947
Transaldolase Deficiency	Hepatomegaly, Hepatic fibrosis, Small for gestational age, Failure to thrive, Micronodular cirrho...	OMIM:606003
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
Familial Chylomicronemia Syndrome	Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly,...	ORPHA:444490
Meckel Syndrome, Type 3	Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis	OMIM:607361
Frontotemporal Dementia	Polyphagia	OMIM:600274
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c...	OMIM:616000
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Failure to thrive, Acute hepatitis, Hyperammonemia, Decreased liver function, Hyper...	OMIM:238970
Dominant Beta-Thalassemia	Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Hepatic fibrosis, Hep...	ORPHA:231226
Infantile Liver Failure Syndrome 1	Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans...	OMIM:615438
Wilson Disease	Hepatomegaly, Hypoparathyroidism, Dysphagia, Hepatocellular carcinoma, Osteoarthritis, Glycosuria...	OMIM:277900
Bardet-Biedl Syndrome 8	Obesity	OMIM:615985
D-Glyceric Aciduria	Abnormal enzyme/coenzyme activity, Nonketotic hyperglycinemia, Hyperglycinemia, Increased circula...	ORPHA:941
Immunodeficiency 56	Cholangitis, Bronchiectasis, Failure to thrive, Recurrent otitis media, Cirrhosis, Recurrent pneu...	OMIM:615207
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio...	ORPHA:189427
Trisomy 5P	Obesity	ORPHA:1742
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Erythroderma, Decreased circulating total IgA, Pneumonia, Failure to thrive secondary to recurren...	ORPHA:169160
Argininosuccinic Aciduria	Hepatomegaly, Hepatic fibrosis, Hyperglutaminemia, Failure to thrive, Hypoargininemia, Hyperammon...	OMIM:207900
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Polydipsia, Ascites, Congenital hepat...	ORPHA:84081
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Hypokalemia, Failure to thri...	OMIM:619377
Mehmo Syndrome	Obesity, Diabetes mellitus	ORPHA:85282
Coenzyme Q10 Deficiency, Primary, 2	Obesity	OMIM:614651
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Ataxia, Hypoglycemia, Failure to thrive	OMIM:220111
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hypogonadotropic hypogonadism, Osteoporosis, Diabetes mellitus, Primary amenorrhea, Obesity	OMIM:610628
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Mental Retardation With Language Impairment And With Or Without Autistic Features	Obesity, Failure to thrive in infancy	OMIM:613670
Lysosomal Acid Lipase Deficiency	Microvesicular hepatic steatosis, Fatal liver failure in infancy, Hepatosplenomegaly, Hyperspleni...	ORPHA:275761
Man1B1-Cdg	Truncal obesity, Broad-based gait, Polyphagia	ORPHA:397941
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Recurrent otitis media, Hypercholesterolemia, Obesity, Prec...	ORPHA:254531
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa...	ORPHA:882
Autoimmune Polyendocrine Syndrome, Type Ii	Type II diabetes mellitus, Asplenia, Chronic hepatitis, Hepatitis, Primary adrenal insufficiency,...	OMIM:269200
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney	OMIM:615415
Graft Versus Host Disease	Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Failure to thrive, Fasciit...	ORPHA:39812
Fryns Macrocephaly	Truncal obesity, Knee flexion contracture	OMIM:600302
Chylomicron Retention Disease	Hypocholesterolemia, Failure to thrive, Increased hepatocellular lipid droplets, Hepatic steatosi...	ORPHA:71
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
Hyperlipoproteinemia, Type I	Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom...	OMIM:238600
Senior-Loken Syndrome	Congenital hepatic fibrosis	ORPHA:3156
Bardet-Biedl Syndrome 4	Obesity	OMIM:615982
Adrenomyodystrophy	Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma	OMIM:300270
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Acne, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus...	ORPHA:77296
Mehmo Syndrome	Hypoglycemia, Small for gestational age, Inability to walk, Male hypogonadism, Difficulty walking...	OMIM:300148
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Stomatitis, Decreased circulating IgA level, Failure to thrive, Decreased circulati...	OMIM:308230
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Eczema, Decreased prealbumin level, Tubulointerstitial nephritis, Hepatitis, Splenomegaly, Gastri...	ORPHA:37042
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Central hypothyroidism, Hyponatremia, Infectious encephalitis, Hyperlipidemia, Elevated hepatic t...	ORPHA:293987
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Hepatic fibrosis, Cholestasis	OMIM:266920
Autism, Susceptibility To, 18	Overweight, Tall stature	OMIM:615032
Acyl-Coa Dehydrogenase 9 Deficiency	Failure to thrive, Hyperammonemia, Elevated creatine kinase after exercise, Hepatic steatosis, Ac...	ORPHA:99901
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance...	ORPHA:79083
Necrotizing Enterocolitis	Leukocytosis, Neutropenia, Small for gestational age, Hyperglycemia, Abnormal glucose homeostasis...	ORPHA:391673
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Steatorrhea, Diabetes melli...	OMIM:616263
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,...	ORPHA:276152
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa...	ORPHA:2348
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypoglyc...	OMIM:212138
Glycogen Storage Disease Ixc	Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p...	OMIM:613027
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Osteoar...	ORPHA:633
Cholestasis With Gallstone, Ataxia, And Visual Disturbance	Giant cell hepatitis, Cholelithiasis, Jaundice	OMIM:214980
Biliary Atresia, Extrahepatic	Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd...	OMIM:210500
Myasthenia Gravis	Dysphagia, Myositis, Hepatitis, Primary adrenal insufficiency, Glycosuria, Acrocyanosis, Hyperthy...	ORPHA:589
Griscelli Syndrome	Hepatomegaly, Ascites, Abnormal circulating lipid concentration, Hepatitis, Splenomegaly, Jaundice	ORPHA:381
Craniopharyngioma	Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Polyphagia, H...	ORPHA:54595
Caroli Syndrome	Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate...	ORPHA:480520
Beta-Thalassemia Major	Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Hepatic...	ORPHA:231214
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619232
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Pancreatic hypoplasia, Congenital hypothyroidism, Hepatic fibrosis, Splenic cyst, P...	OMIM:610199
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Decreased response to growth hormone stimulation test, Hyperglycine...	ORPHA:470
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Truncal obesity, Amelogenesis imperfecta, Obesity, Inguinal hernia	OMIM:618363
Bardet-Biedl Syndrome	Hypogonadism, Obesity, Hypoplasia of the ovary, Hepatic fibrosis	ORPHA:110
Abetalipoproteinemia	Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibros...	ORPHA:14
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Pseudohypoparathyroidism Type 1C	Elevated circulating parathyroid hormone level, Oligomenorrhea, Polyphagia, Ectopic ossification,...	ORPHA:79444
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit...	ORPHA:562639
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh...	OMIM:616860
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Osteolytic defects of th...	OMIM:608612
Adams-Oliver Syndrome 6	Portal hypertension, Hepatic fibrosis	OMIM:616589
Gangliocytoma	Abnormal prolactin level, Polyphagia, Amenorrhea, Decreased female libido, Abnormality of the pit...	ORPHA:251937
Ddost-Cdg	Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic tra...	ORPHA:300536
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Erythroderma, Failure to thrive, Hepatitis, Arthritis, Increased circulating IgE level, T...	OMIM:304790
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cholangitis, Failure to thrive in infancy, Hepatitis, Cirrhosis, Hepatosplenomegaly, Thyroiditis,...	ORPHA:228426
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Dysphagia, Failure to thrive, Decreased liver function, Hepatic steatosis, Abnormal enzyme/coenzy...	ORPHA:70472
Pseudohypoparathyroidism, Type Ib	Obesity	OMIM:603233
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Polyphagia	ORPHA:228402
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulat...	OMIM:235555
Beta-Ketothiolase Deficiency	Leukocytosis, Thrombocytosis, Hypoglycemia, Hyperglycemia, Weight loss, Ataxia, Oral aversion	ORPHA:134
Coach Syndrome 1	Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cirrhosis, Intrahepatic bile duct dilatation, Eleva...	OMIM:216360
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Insulin resistance, Truncal obesity, Hypogonadism, Left ventricular hypertrophy...	OMIM:209900
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Hypercalcemia, Hypoglycemia, Failure to thrive, Weight loss, He...	ORPHA:199299
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:237800
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Failure to thrive in infancy, Decreased circulating IgA level, Hepatitis, Splenomeg...	OMIM:613385
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoketotic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase le...	OMIM:231530
Solitary Fibrous Tumor/Hemangiopericytoma	Genital neoplasm, Hypoglycemia, Neoplasm of the lung, Neoplasia of the pleura, Soft tissue neopla...	ORPHA:2126
Primary Lipodystrophy	Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Pancreatitis, Splenomegaly, Cirrho...	ORPHA:90970
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst...	OMIM:208540
Bangstad Syndrome	Increased circulating cortisol level, Ataxia, Abnormality of the parathyroid gland, Type I diabet...	ORPHA:1227
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia, Craniosynostosis	OMIM:175700
Cebalid Syndrome	Congenital diaphragmatic hernia, Polyphagia	OMIM:618774
Combined Oxidative Phosphorylation Deficiency 12	Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis, Failure to thrive	OMIM:614924
Propionic Acidemia	Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia, Hyperammonemia	ORPHA:35
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Abdominal Obesity-Metabolic Syndrome 3	Abdominal obesity, Truncal obesity	OMIM:615812
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Sitosterolemia 1	Elevated circulating sitosterol concentration, Arthritis, Splenomegaly, Abnormality of the liver,...	OMIM:210250
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hepatic fibrosis, Hyperoxaluria	OMIM:601539
Summitt Syndrome	Obesity, Camptodactyly of finger, Tall stature	ORPHA:3210
Pseudohypoparathyroidism Type 1A	Elevated circulating parathyroid hormone level, Oligomenorrhea, Polyphagia, Ectopic ossification,...	ORPHA:79443
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Anemia, Broad-based ...	OMIM:614450
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters...	ORPHA:139402
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Obesity	ORPHA:2233
Seckel Syndrome 10	Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,...	OMIM:617253
Bardet-Biedl Syndrome 21	Obesity, Overweight	OMIM:617406
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Camptodactyly of finger	ORPHA:2928
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Rickets, Failure to thrive, Impaired glucose tolerance, Glycosuria, Osteope...	ORPHA:2088
Avian Influenza	Hypoalbuminemia, Hypoxemia, Infectious encephalitis, Pneumonia, Elevated circulating creatine kin...	ORPHA:454836
Pseudopseudohypoparathyroidism	Obesity	ORPHA:79445
Galactosemia I	Hepatomegaly, Hypergalactosemia, Failure to thrive, Increased level of galactitol in red blood ce...	OMIM:230400
Congenital Enterovirus Infection	Fetal ascites, Myocarditis, Infectious encephalitis, Hepatitis, Hyperammonemia, Cholestasis, Hepa...	ORPHA:292
Retinopathy, Pigmentary, And Mental Retardation	Truncal obesity	OMIM:268050
Angelman Syndrome	Precocious puberty in females, Dysphagia, Polyphagia, Hyperactivity, Inability to walk, Ataxia, B...	ORPHA:72
Idiopathic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Peritonitis, Abnormal circulating lipid concentration, Hyperch...	ORPHA:567548
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Blue Diaper Syndrome	Hypercalcemia, Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyro...	ORPHA:94086
Autosomal Recessive Polycystic Kidney Disease	Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary...	ORPHA:731
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures	Obesity	OMIM:618822
Syndromic Diarrhea	Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Small for gestational age, Hypop...	ORPHA:84064
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Neonatal hypoglyce...	ORPHA:348
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Macrocephaly/Autism Syndrome	Hepatomegaly, Decreased circulating antibody level, Obesity, Splenomegaly	OMIM:605309
Pancreatic And Cerebellar Agenesis	Hypoglycemia, Hyperglycemia, Failure to thrive, Anemia, Diabetes mellitus	OMIM:609069
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Agammaglobulinemia, Infectious encephalitis, Biliary tract abnormality, Failure to t...	OMIM:209920
Bacterial Toxic-Shock Syndrome	Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Elevated circulating cre...	ORPHA:36234
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Glycosuria, Hepatic steatosis, Elevated ci...	OMIM:231680
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity	OMIM:601794
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Obesity, Lipoma	ORPHA:480907
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hy...	OMIM:601847
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili...	OMIM:243300
Short Syndrome	Insulin-resistant diabetes mellitus, Glucose intolerance, Small for gestational age, Hyperglycemia	OMIM:269880
Clark-Baraitser Syndrome	Obesity	OMIM:617752
Trisomy 18P	Attention deficit hyperactivity disorder, Polyphagia	ORPHA:1715
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia	OMIM:615538
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia, Failure to thrive	OMIM:210200
Hardikar Syndrome	Cholangitis, Decreased serum insulin-like growth factor 1, Intrahepatic bile duct cysts, Splenome...	OMIM:301068
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal ...	ORPHA:96184
Mitochondrial Neurogastrointestinal Encephalomyopathy	Dysphagia, Cachexia, Hypogonadotropic hypogonadism, Weight loss, Hyperalaninemia, Cirrhosis, Macr...	ORPHA:298
Trichohepatoenteric Syndrome 1	Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Small for ...	OMIM:222470
Meckel Syndrome, Type 6	Bile duct proliferation, Cystic liver disease, Hepatic fibrosis	OMIM:612284
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity	ORPHA:2183
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, T...	ORPHA:228308
11Q22.2Q22.3 Microdeletion Syndrome	Obesity	ORPHA:444002
Borjeson-Forssman-Lehmann Syndrome	Obesity	OMIM:301900
Isolated Thyroid-Stimulating Hormone Deficiency	Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Failure to thrive, Abnormal circulating ...	ORPHA:90674
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl...	OMIM:248370
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome

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