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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 (995 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, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child...	ORPHA:71529
Body Mass Index Quantitative Trait Locus 20		Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature	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
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
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
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv...	OMIM:232700
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child...	ORPHA:71529
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature	OMIM:618406
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy...	ORPHA:329249
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Obesity And Hypopigmentation	Overgrowth, Hyperinsulinemia, Polyphagia, Obesity	OMIM:620195
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Polyphagia, Decreased testicul...	OMIM:614962
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Summitt Syndrome	Obesity	OMIM:272350
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase...	ORPHA:446
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo...	OMIM:601820
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age	OMIM:618858
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior	ORPHA:356996
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia	OMIM:617885
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi...	OMIM:278000
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h...	ORPHA:171706
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m...	OMIM:616329
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Narcolepsy Type 1	Obesity	ORPHA:2073
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati...	OMIM:617872
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp...	ORPHA:75234
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age	OMIM:606176
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb...	ORPHA:79319
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity, Insulin resistance	ORPHA:140941
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Obesity	OMIM:608320
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia	OMIM:222100
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega...	OMIM:300635
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	OMIM:619386
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu...	OMIM:301033
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity	OMIM:309585
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic...	ORPHA:436182
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E...	ORPHA:79230
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Bardet-Biedl Syndrome 9	Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
14Q11.2 Microduplication Syndrome	Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Lipodystrophy, Chilblains, Intestinal inflammation, Hep...	OMIM:619858
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas...	OMIM:615954
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity	ORPHA:177910
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia	OMIM:240800
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypergonadotropic hypogonadi...	ORPHA:79237
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea...	OMIM:619048
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Lipodystrop...	ORPHA:528
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema	OMIM:176090
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Hypertriglycer...	OMIM:608594
Huntington Disease	Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Weight loss, ...	ORPHA:399
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Tall stature, Ataxia, Diab...	ORPHA:300373
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex...	ORPHA:905
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res...	OMIM:615980
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyper...	OMIM:602579
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated g...	ORPHA:53035
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Obesity, Aggressive behavior	OMIM:620270
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa...	OMIM:617093
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D...	OMIM:262190
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Acute pancr...	OMIM:269700
Bardet-Biedl Syndrome 5	Obesity	OMIM:615983
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato...	ORPHA:101330
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin...	OMIM:251880
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	ORPHA:280365
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Membranoproliferative glomerulonephritis, Progressive loss of facial adipose t...	OMIM:608709
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder...	ORPHA:35878
Syndromic X-Linked Intellectual Disability 7	Obesity	ORPHA:85274
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin...	OMIM:613759
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I...	ORPHA:3111
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, Obesity	OMIM:300209
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,...	ORPHA:2298
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Dysplasia Epiphysealis Hemimelica	Overgrowth	OMIM:127800
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98793
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98754
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177904
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hernia of the abdominal wall, Obesity	ORPHA:3055
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177901
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
11P15.4 Microduplication Syndrome	Obesity, Aggressive behavior	ORPHA:300305
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Premature adrenarche, Hypothalamic luteinizing hormone-releasing hormone deficiency, ...	ORPHA:398079
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Osteoporosis, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic hypoglyc...	OMIM:616033
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:615486
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem...	ORPHA:79644
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Episcleritis, Puberty and gonadal dis...	ORPHA:525731
Estrogen Resistance Syndrome	Osteopenia, Increased circulating gonadotropin level, Absence of secondary sex characteristics, H...	ORPHA:785
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h...	ORPHA:26792
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	OMIM:151660
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Unsteady gait, Type II diabetes mellitus	OMIM:520000
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Inability to walk, Cryptorchidism, Obesity, Hypogonadi...	OMIM:615547
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta...	ORPHA:158061
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k...	OMIM:201475
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia, Ca...	ORPHA:2849
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert...	OMIM:203800
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Aminoaciduria, Hyper...	OMIM:230350
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev...	OMIM:611182
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ...	ORPHA:3085
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome...	ORPHA:30391
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance...	OMIM:615630
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Senior-Loken Syndrome 9	Obesity, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Hypogonadism	OMIM:616629
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Laurence-Moon Syndrome	Type II diabetes mellitus, Congenital hepatic fibrosis, Obesity	ORPHA:2377
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Central hypoth...	ORPHA:95427
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to...	OMIM:606407
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:212140
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology	ORPHA:791
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:615158
Morm Syndrome	Truncal obesity, Hyperactivity, Aggressive behavior	ORPHA:75858
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre...	OMIM:261750
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ...	OMIM:261680
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ...	OMIM:264470
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Nephronophthisis 15	Obesity	OMIM:614845
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Anorexia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepa...	ORPHA:169160
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyp...	OMIM:246200
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Jaundice, H...	ORPHA:186
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease...	ORPHA:33543
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl...	OMIM:614921
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Insulin-resistant diabetes m...	ORPHA:79086
Luscan-Lumish Syndrome	Aggressive behavior, Irregular menstruation, Obesity, Advanced ossification of carpal bones, Over...	OMIM:616831
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea	OMIM:619737
Chromosome Xq26.3 Duplication Syndrome	Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir...	OMIM:300942
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa...	ORPHA:263501
Mehmo Syndrome	Diabetes mellitus, Agitation, Obesity	ORPHA:85282
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Increased body weight, Compulsive behaviors, Hypothalamic luteinizing hormone-releasi...	ORPHA:398069
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu...	OMIM:238970
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive	ORPHA:261483
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost...	ORPHA:848
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Agg...	ORPHA:84081
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Pericarditis,...	OMIM:619487
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu...	OMIM:619013
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Agamma...	ORPHA:33110
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho...	OMIM:614602
Estrogen Resistance	Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Cryptorchidism, Self-injurious behavior, P...	ORPHA:228402
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu...	OMIM:300972
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac...	ORPHA:829
Mehmo Syndrome	Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A...	OMIM:300148
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Obesity	OMIM:614651
Bardet-Biedl Syndrome 8	Obesity	OMIM:615985
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru...	ORPHA:541423
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Bardet-Biedl Syndrome 2	Diabetes mellitus, Obesity	OMIM:615981
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Premature adrenarche, Precocio...	ORPHA:739
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Failure to thrive, Dysgammaglobulinemia, Increased circulating IgA level, Splenomeg...	OMIM:308230
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet...	OMIM:615381
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age	ORPHA:2432
Galactose Mutarotase Deficiency	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Cholestasis, Hypergalactosem...	ORPHA:570422
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ...	ORPHA:890
Prader-Willi Syndrome	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	OMIM:176270
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity	OMIM:618160
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Primary Sclerosing Cholangitis	Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, E...	ORPHA:171
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A...	OMIM:300310
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Hypercalcemia, Abnormal dental enamel morphology, Obesi...	ORPHA:251004
Short Stature, Dauber-Argente Type	Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density	OMIM:619489
Bardet-Biedl Syndrome 7	Obesity	OMIM:615984
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch...	OMIM:194380
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Biemond Syndrome Type 2	Obesity	ORPHA:141333
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Acne, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal ci...	ORPHA:3191
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb...	OMIM:208085
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Myositis, Maculop...	ORPHA:39812
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Trisomy 5P	Obesity	ORPHA:1742
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Precocious puberty, Obesity, Recurrent otitis media, Hyperc...	ORPHA:254531
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Hepatic steatosis	OMIM:201450
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis	ORPHA:79087
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Hyperglycinemia, Nonketotic hyperglycinemi...	ORPHA:941
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in females, Aggressive behavior, Inab...	ORPHA:72
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem...	ORPHA:199299
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Dominant Beta-Thalassemia	Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular carcinoma, Hy...	ORPHA:231226
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O...	ORPHA:77296
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Decreased circulating ceruloplasmin concen...	ORPHA:48818
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ...	ORPHA:71
Transaldolase Deficiency	Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly...	OMIM:606003
Bardet-Biedl Syndrome 16	Obesity	OMIM:615993
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Absence ...	OMIM:610628
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosp...	ORPHA:275761
Man1B1-Cdg	Truncal obesity, Broad-based gait, Polyphagia	ORPHA:397941
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Gait disturbance	OMIM:604484
Bardet-Biedl Syndrome 4	Obesity	OMIM:615982
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased...	ORPHA:189427
Immunodeficiency 56	Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis...	OMIM:615207
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit...	ORPHA:79083
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Osteoporosis, Amenorrhea, Weight ...	ORPHA:465508
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype...	OMIM:617156
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi...	ORPHA:37042
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo...	OMIM:182290
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, ...	OMIM:212065
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Hyperlipidemia, Ja...	ORPHA:444490
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Beta-Ketothiolase Deficiency	Ataxia, Hypoglycemia, Anorexia, Thrombocytosis, Leukocytosis, Weight loss, Agitation, Oral aversi...	ORPHA:134
Senior-Loken Syndrome	Congenital hepatic fibrosis	ORPHA:3156
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem...	ORPHA:2348
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors	ORPHA:444002
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Hypoketotic hypoglycemia, Failure to thrive, Increased circ...	OMIM:610768
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati...	ORPHA:99901
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating...	OMIM:616860
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Ascites, Abnormal circulating lipid concentration	ORPHA:381
Bangstad Syndrome	Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le...	ORPHA:1227
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ...	ORPHA:300536
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Truncal obesity, Delayed puber...	ORPHA:633
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity	ORPHA:3077
Bardet-Biedl Syndrome	Hepatic fibrosis, Hypoplasia of the ovary, Hypogonadism, Obesity	ORPHA:110
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Glomerulonephritis, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma, ...	OMIM:304790
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hyperglycemia, Craniosynostosis	OMIM:175700
Intellectual Developmental Disorder, Autosomal Recessive 46	Large for gestational age, Self-injurious behavior, Agitation, Aggressive behavior	OMIM:616116
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Myasthenia Gravis	Myositis, Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Glycosuria, Abnormal thymus ...	ORPHA:589
Bardet-Biedl Syndrome 19	Hepatic steatosis, Hypogonadism, Obesity	OMIM:615996
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip...	OMIM:248370
Rett Syndrome	Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Failu...	ORPHA:778
Abdominal Obesity-Metabolic Syndrome 3	Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity	OMIM:615812
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention deficit hyperactivit...	ORPHA:210548
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Decreased liver function, Dysphagia, Failu...	ORPHA:70472
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Failure to ...	ORPHA:14
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular...	ORPHA:231214
Nephronophthisis 16	Enlarged kidney, Periportal fibrosis, Cholestasis	OMIM:615382
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Summitt Syndrome	Camptodactyly of finger, Tall stature, Obesity	ORPHA:3210
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Hep...	OMIM:613385
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,...	ORPHA:139402
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Portal hypertension	OMIM:617341
Chung-Jansen Syndrome	Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior	OMIM:617991
Laurence-Moon Syndrome	Obesity	OMIM:245800
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Obesity, Stereotypical hand wringing	OMIM:619854
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Soft tissue neoplasm, Vaginal neoplasm...	ORPHA:2126
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Goiter, Pitui...	ORPHA:90674
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abnormal abdomen morphology, Sp...	OMIM:216360
Galactosemia I	Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase con...	OMIM:230400
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen...	ORPHA:228426
Pseudohypoparathyroidism, Type Ib	Obesity	OMIM:603233
Legionnaires Disease	Hyponatremia, Pericarditis, Anorexia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditi...	ORPHA:549
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Intellectual Developmental Disorder With Autism And Macrocephaly	Overweight, Recurrent hand flapping, Pica, Tall stature	OMIM:615032
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi...	ORPHA:276152
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Intellectual Developmental Disorder, X-Linked 108	Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder	OMIM:301024
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d...	OMIM:231530
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Obesity	ORPHA:2233
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body weight, Congen...	OMIM:614450
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Bardet-Biedl Syndrome 21	Overweight, Obesity	OMIM:617406
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contract...	OMIM:616263
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Congenital Myopathy 9A	Cryptorchidism, Obesity, Akinesia	OMIM:618822
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Progressive clavicula...	OMIM:608612
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Type II diabetes mellitus, Obesity	ORPHA:2234
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm...	ORPHA:79443
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula...	OMIM:610475
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Lipoma, Obesity, Oral-pharyngeal dysphagia	ORPHA:480907
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Very long c...	ORPHA:98908
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Manganese Poisoning	Decreased female libido, Akinesia, Aggressive behavior, Hypersexuality, Impotence, Gait disturban...	ORPHA:306682
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Minimal change glomerulonephritis, Peritonitis, Hypoalbuminemia, Hyperchole...	ORPHA:567548
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:601539
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity	OMIM:601794
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hyperactivity, Obesity	ORPHA:397973
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Camptodactyly of finger	ORPHA:2928
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Congenital Enterovirus Infection	Skin rash, Fetal ascites, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, H...	ORPHA:292
Clark-Baraitser Syndrome	Hyperactivity, Obesity, Aggressive behavior	OMIM:617752
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity	ORPHA:2183
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Os...	ORPHA:36234
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,...	OMIM:615300
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Necrotizing Enterocolitis	Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia...	ORPHA:391673
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru...	ORPHA:96184
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac...	ORPHA:298
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm...	OMIM:209920
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ...	OMIM:608836
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li...	ORPHA:440713
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Eczema, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Ski...	OMIM:600430
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Small for gestational age, Gastritis, Hypothyroidism, Splenomegaly...	ORPHA:84064
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity	ORPHA:363741
Acromegaloid Facial Appearance Syndrome	Large for gestational age	OMIM:102150
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Borjeson-Forssman-Lehmann Syndrome	Obesity	OMIM:301900
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Generalized aminoaciduria, Glycosuria, Elevated circulating...	OMIM:231680
48,Xxyy Syndrome	Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Lymphoma, Obe...	ORPHA:10
Trisomy 18P	Bilateral cryptorchidism, Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy...	ORPHA:2552
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Rafiq Syndrome	Truncal obesity, Flexion contracture, Obesity, Aggressive behavior	OMIM:614202
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Skin-picking, Abno...	ORPHA:163681
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepati...	ORPHA:79259
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o...	ORPHA:240094
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Leukocytosis, Addictive alcohol use, Hyperglycemia, Hypothyroidism	ORPHA:90065
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Small for gestational age, Abnormality of the pancreas, Splenome...	OMIM:222470
Mednik Syndrome	Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen...	OMIM:609313
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Hyperactivity, Precocious puberty, Hyperlipidemia, Obesity, Self-injurious beh...	ORPHA:254346
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,...	OMIM:209900
Joubert Syndrome 6	Abnormal repetitive mannerisms, Bile duct proliferation, Hepatic fibrosis	OMIM:610688
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Cholelithi...	OMIM:240300
Baralle-Macken Syndrome	Obesity	OMIM:619255
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Decreased circulatin...	ORPHA:572
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Increased body weight, Increase...	OMIM:615830
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Obesity	ORPHA:254525
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity	OMIM:615633
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Obesity	OMIM:614613
Mccune-Albright Syndrome	Abnormal endocrine physiology, Hyperthyroidism, Elevated circulating growth hormone concentration...	ORPHA:562
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati...	ORPHA:333
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:615453
Spastic Paraplegia 11, Autosomal Recessive	Obesity, Dysphagia	OMIM:604360
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti...	ORPHA:91138
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost...	OMIM:610489
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula...	OMIM:605479
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, ...	ORPHA:453533
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Obesity	OMIM:612463
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Spleno...	OMIM:308240
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, D...	ORPHA:3261
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Short Syndrome	Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol...	OMIM:269880
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepati...	OMIM:236200
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hypoglycemia, Jaundice, Bic...	OMIM:229600
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper...	OMIM:618363
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,...	OMIM:619418
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Abnormal repetitive manne...	ORPHA:819
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Elevated circulating ...	ORPHA:52430
Microtriplication 11Q24.1	Hyperlipidemia, Obesity, Bruxism	ORPHA:289522
Wagr Syndrome	Obesity	ORPHA:893
Cole Disease	Hyperglycemia	OMIM:615522
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Restlessness, Broad-based gait, Decreased testicular size, Aggressive behavior, Crypt...	ORPHA:251028
Angelman Syndrome Due To A Point Mutation	Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent...	ORPHA:411511
Nephronophthisis 3	Polydipsia, Hepatic fibrosis	OMIM:604387
Adrenomyodystrophy	Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis	ORPHA:977
13Q12.3 Microdeletion Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m...	ORPHA:412035
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D...	OMIM:618329
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Obesity	ORPHA:1035
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Hyperammonemia, Hypero...	ORPHA:415
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid...	ORPHA:79445
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop...	OMIM:215600
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Gout, Hyperproteinemi...	ORPHA:90041
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Hematological neoplasm, Keratitis, Increased circulating IgE...	ORPHA:1163
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism...	OMIM:612462
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Obesity	ORPHA:352530
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Chromosome Xq27.3-Q28 Duplication Syndrome	Abdominal obesity, Small for gestational age	OMIM:300869
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast...	ORPHA:769
Sitosterolemia 1	Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Splenomeg...	OMIM:210250
Intellectual Developmental Disorder, Autosomal Dominant 1	Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent ...	OMIM:156200
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms...	OMIM:618430
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Perry Syndrome	Akinesia, Weight loss, Inappropriate behavior, Disinhibition, Short stepped shuffling gait	OMIM:168605
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Lichen Planopilaris	Hepatitis	ORPHA:525
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczema...	ORPHA:83471
Wilson-Turner Syndrome	Truncal obesity	ORPHA:3459
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Restlessness, Hepatomegaly, Elevated circulating alpha-fetoprotein...	OMIM:615273
Nephronophthisis 11	Polydipsia, Hepatic fibrosis	OMIM:613550
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Impulsivity, Cryptorchidism, Increased body weight, Gait disturbance, Attention deficit hyperacti...	ORPHA:589905
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti...	ORPHA:99832
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Hyperlipidemia, I...	ORPHA:91
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Craniosynostosis, Aggressive behavior, Cryptorchidism, Unsteady gai...	ORPHA:96121
Aicardi-Goutieres Syndrome 7	Hepatic steatosis, Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Increased ...	OMIM:615846
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal insufficiency,...	ORPHA:227990
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Obesity, Tall stature	OMIM:618089
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large...	OMIM:616026
Megalencephaly	Truncal obesity	ORPHA:2477
Spinocerebellar Ataxia 21	Ataxia, Impulsivity, Aggressive behavior, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebel...	OMIM:607454
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis,...	ORPHA:227982
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Anorexia, Colitis, Hypoalbuminemia, Pustul...	OMIM:619381
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Portal hypertension, Congenital hep...	ORPHA:1454
Idiopathic Intracranial Hypertension	Obesity	ORPHA:238624
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In...	ORPHA:79474
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins...	ORPHA:508
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypergonado...	ORPHA:2959
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Atte...	ORPHA:73272
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia	OMIM:263210
Clark-Baraitser syndrome	Obesity, Tall stature	OMIM:300602
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Pyruvate Carboxylase Deficiency	Failure to thrive, Ataxia, Hypoglycemia, Anorexia, Tip-toe gait, Abnormal temper tantrums, Compul...	ORPHA:3008
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Increased circulating antibody level, Dys...	ORPHA:319218
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas...	OMIM:610198
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia, Minimal change glomerulonephritis	OMIM:616730
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Adnp Syndrome	Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper...	ORPHA:404448
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia	ORPHA:254534
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of...	ORPHA:93111
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J...	OMIM:208500
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Decreased response to growth hormone stimulation test, Overweight, Cra...	ORPHA:457240
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity, Aggressive behavior	OMIM:619056
Shox-Related Short Stature	Obesity	ORPHA:314795
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti...	OMIM:307200
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ...	ORPHA:91139
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney	OMIM:200995
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Flexion contracture, Obesity, Bruxism, Wrist flexion contracture	OMIM:300055
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Pica, Obesity, Aggressive behavior	OMIM:620191
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Inflammatory abnormality of the skin, Eczema, Abnormality ...	ORPHA:391487
Turner Syndrome Due To Structural X Chromosome Anomalies	Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ...	ORPHA:99413
Mosaic Monosomy X	Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ...	ORPHA:99228
Monosomy X	Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ...	ORPHA:99226
Turner Syndrome	Gastrointestinal inflammation, Glucose intolerance, Inflammation of the large intestine, Hepatic ...	ORPHA:881
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact...	OMIM:301039
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Inguinal hernia, Overgrowth, Large for gestational age	OMIM:618272
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Pseudohypoparathyroidism, Type Ia	Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:103580
Distal 16P11.2 Microdeletion Syndrome	Obesity, Attention deficit hyperactivity disorder	ORPHA:261222
Idiopathic Neonatal Atrial Flutter	Maternal diabetes, Large for gestational age	ORPHA:45452
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph...	ORPHA:98794
1P36 Deletion Syndrome	Hepatic steatosis, Camptodactyly of finger, Hypothyroidism, Abnormality of the spleen, Polyphagia...	ORPHA:1606
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone s...	ORPHA:3464
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Exocrine pancreatic insuffi...	OMIM:620005
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Left ve...	OMIM:615418
Weaver Syndrome	Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly...	OMIM:277590
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Hyperglycemia, Failure to thrive, Anemia	OMIM:609069
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Lymphoma, Bronchiectasis, Malar rash, Squamou...	OMIM:210900
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Umbilical hernia, Obesity	ORPHA:171839
Joubert Syndrome 37	Hepatomegaly, Obesity	OMIM:619185
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Aminoaciduria, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Fai...	ORPHA:436271
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concent...	OMIM:619991
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Obesity	OMIM:194072
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia	OMIM:611126
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Psoriasiform dermatitis, T-cell lymphoma, Enterocolitis, Decreased circulating antib...	OMIM:243150
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Decreased body weight, Obesity, Dysphagia	ORPHA:589821
Xp22.13P22.2 Duplication Syndrome	Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia, Attention deficit hyperactivi...	ORPHA:284180
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemia, Retrograde ejaculation, Anemia	ORPHA:230
Vipoma	Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the live...	ORPHA:97282
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Hy...	ORPHA:699
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Glycosuria, Hyperglycemia, Fai...	ORPHA:99885
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Obesity	OMIM:610543
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Anorexi...	ORPHA:20
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Left ventricular hyp...	ORPHA:746
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Repetitive compulsive behavior, ...	ORPHA:66634
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Obesity	ORPHA:464282
Ppoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97278
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Anorexia, Jaundice, Hepatitis, Uveitis, Increased circu...	ORPHA:319251
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hepatic fibrosis	OMIM:614091
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity	ORPHA:96168
15Q24 Microdeletion Syndrome	Small for gestational age, Congenital diaphragmatic hernia, Obesity, Hernia, Failure to thrive	ORPHA:94065
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Eczema, Obesity, Pseudohypoparathyroidism	ORPHA:464288
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri...	OMIM:615873
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Ascites, Cirrhosis, Failure to thrive	ORPHA:974
Joubert Syndrome 32	Tall stature, Large for gestational age	OMIM:617757
Carpenter Syndrome	Umbilical hernia, Obesity	ORPHA:65759
Acute Liver Failure	Elevated hepatic transaminase, Hypoglycemia, Skin rash, Jaundice, Hepatitis, Hyperammonemia, Hepa...	ORPHA:90062
Myofibrillar Myopathy 11	Overweight, Dysphagia	OMIM:619178
Dyskeratosis Congenita, Autosomal Dominant 2	Failure to thrive, Hepatic fibrosis	OMIM:613989
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Flexion contracture of toe, Obesity	ORPHA:3409
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit...	OMIM:261515
Somatostatinoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97283
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Truncal obesity	OMIM:300957
Fanconi-Bickel Syndrome	Osteomalacia, Rickets, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to t...	OMIM:227810
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Joubert Syndrome 1	Hyperactivity, Hepatic fibrosis, Self-mutilation, Aggressive behavior	OMIM:213300
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu...	OMIM:270450
X-Linked Intellectual Disability, Hedera Type	Obesity	ORPHA:93952
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Pituitary Adenoma 4, Acth-Secreting	Glucose intolerance, Abdominal obesity, Impaired glucose tolerance, Obesity	OMIM:219090
Mucopolysaccharidosis Type 7	Inguinal hernia, Splenomegaly, Hepatitis, Umbilical hernia, Ascites	ORPHA:584
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Obesity, Male hypogonadism, Hypercholesterolemia, Pancreatitis	OMIM:619471
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Hepatosplenomegaly,...	OMIM:301066
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Small for gestational age, Akinesia, Hypochromic microcytic anemia, Failure to thrive, Hypothyroi...	OMIM:619147
Spondyloenchondrodysplasia	Enchondroma, Skin rash, Decreased response to growth hormone stimulation test, Pneumonia, Hypothy...	ORPHA:1855
Kufor-Rakeb Syndrome	Ataxia, Akinesia, Aggressive behavior, Gait disturbance, Dysphagia	OMIM:606693
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Obesity	ORPHA:2180
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait	ORPHA:391411
Tatton-Brown-Rahman Syndrome	Aggressive behavior, Obesity, Proportionate tall stature, Umbilical hernia, Myeloid leukemia, Neu...	ORPHA:404443
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Abdominal obesity, Hypogonadism, Delayed puberty	OMIM:300354
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis	OMIM:243910
Marbach-Schaaf Neurodevelopmental Syndrome	Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:619680
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Atelis Syndrome 2	Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi...	OMIM:620185
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di...	OMIM:619312
48,Xxxy Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli...	ORPHA:96263
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit,...	ORPHA:3041
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ...	OMIM:619534
Gaucher Disease	Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly,...	ORPHA:355
Bloom Syndrome	Adipose tissue loss, Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Decreased circulati...	ORPHA:125
Zygomycosis	Fasciitis, Diabetes mellitus, Sinusitis, Pericarditis, Gastritis, Hematological neoplasm, Pustule...	ORPHA:73263
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu...	OMIM:619573
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Eczema, Minimal change glomerulonephritis	OMIM:618348
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation	ORPHA:293948
Classic Progressive Supranuclear Palsy Syndrome	Akinesia, Impulsivity, Neuromuscular dysphagia, Falls, Gait imbalance	ORPHA:240071
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Anorexia, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, ...	ORPHA:509
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Myelodysplasia,...	ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Neuhauser Syndrome	Hypercholesterolemia, Primary hypothyroidism, Dysphagia	OMIM:249310
Septo-Optic Dysplasia Spectrum	Polydipsia, Obesity, Maternal diabetes	ORPHA:3157
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, Leiomyosarcoma, Neoplas...	ORPHA:116
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob...	OMIM:300755
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Aminoaciduria, Decreased liver function, Increased intramyocellular lipid droplets,...	OMIM:220110
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Overgrowth, Obesity, Aggressive behavior	OMIM:620250
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal dental enamel morphology, Skin rash, Hepatitis	ORPHA:1334
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis	ORPHA:2031
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis	OMIM:224230
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple...	OMIM:266920
Acute Disseminated Encephalomyelitis	Viral hepatitis, Aggressive behavior, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Obesity, Compulsive behaviors	OMIM:618443
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Overgrowth, Tall stature, Large for gestational age	ORPHA:137634
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat...	ORPHA:226313
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Meckel Syndrome 14	Cyanosis, Hepatic fibrosis	OMIM:619879
Neurodegeneration With Brain Iron Accumulation 5	Akinesia, Aggressive behavior	OMIM:300894
Hereditary Late-Onset Parkinson Disease	Akinesia, Impulsivity, Weight loss, Agitation, Shuffling gait, Dysphagia	ORPHA:411602
2Q37 Microdeletion Syndrome	Eczema, Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Compu...	ORPHA:1001
Müllerian Aplasia And Hyperandrogenism	Acne, Obesity, Increased serum testosterone level	ORPHA:247768
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c...	ORPHA:91355
Cimdag Syndrome	Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis	OMIM:619273
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Abnormal...	ORPHA:2072
Alagille Syndrome 1	Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,...	OMIM:118450
Cranioectodermal Dysplasia 1	Hepatomegaly, Inguinal hernia, Malformation of the hepatic ductal plate, Tubulointerstitial nephr...	OMIM:218330
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia	ORPHA:445038
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Abnormal repetitive mannerisms, Hypothyroidism	ORPHA:2479
Bardet-Biedl Syndrome 17	Polydipsia, Obesity	OMIM:615994
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Small for gestational age, Portal...	OMIM:613658
Spinocerebellar Ataxia Type 21	Progressive cerebellar ataxia, Akinesia, Gait ataxia	ORPHA:98773
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia	ORPHA:247234
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellit...	ORPHA:436252
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus	OMIM:615710
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Cornelia De Lange Syndrome 5	Truncal obesity	OMIM:300882
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Steinert Myotonic Dystrophy	Brain neoplasm, Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia,...	ORPHA:273
White-Sutton Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Hypoglycemic seizur...	OMIM:616364
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Failure to th...	ORPHA:261197
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Decrea...	ORPHA:404454
Adiposis Dolorosa	Recurrent skin infections, Arthritis, Hypothyroidism, Obesity	ORPHA:36397
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating enzyme ...	ORPHA:17
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Increased body weight, Aggressive behavior	OMIM:300860
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hypoalbuminemia, Macrovesicular hepatic steatosi...	OMIM:617303
Bachmann-Bupp Syndrome	Hypoglycemia, Large for gestational age, Aggressive behavior, Cryptorchidism, Attention deficit h...	OMIM:619075
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Hyperactivity, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity	ORPHA:85293
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis...	ORPHA:478
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob...	ORPHA:261529
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Anemia	OMIM:620366
Gaucher Disease, Perinatal Lethal	Akinesia, Thrombocytopenia, Splenomegaly, Dysphagia, Hepatosplenomegaly, Decreased body weight, A...	OMIM:608013
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior	OMIM:610253
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia	ORPHA:813
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary...	ORPHA:363618
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hyperactivity, Large for gestational age, Cryptorchidism, Gait disturbance, Neonatal hypoglycemia	ORPHA:457485
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc...	ORPHA:99889
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera...	ORPHA:96253
Johanson-Blizzard Syndrome	Hepatomegaly, Diabetes mellitus, Small for gestational age, Elevated circulating aspartate aminot...	OMIM:243800
Carney Complex	Pituitary growth hormone cell adenoma, Increased body weight, Thyroid carcinoma, Papillary thyroi...	ORPHA:1359
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Dysphagia, Agitation, Decreased body weight, Enamel hypoplasia, Abnormal rep...	OMIM:619229
Xylt1-Cdg	Truncal obesity, Acne, Hepatomegaly	ORPHA:370930
Angelman Syndrome	Hyperactivity, Paroxysmal bursts of laughter, Obesity	OMIM:105830
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyphagia, Self-inj...	OMIM:620330
Distal Deletion 12Q	Late onset atopic dermatitis, Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Mat...	ORPHA:96149
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle...	ORPHA:728
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Pancytopenia, Craniosynostosis, Thrombocytopenia, Splenomegaly, O...	OMIM:259700
Peripartum Cardiomyopathy	Diabetes mellitus, Abnormality of thyroid physiology, Myocarditis, Obesity, Increased circulating...	ORPHA:563
Momo Syndrome	Overgrowth, Obesity, Tall stature, Large for gestational age	ORPHA:2563
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph...	OMIM:619525
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Splenomegaly, Anemia, Osteopetrosis, Thrombocyto...	OMIM:611490
Pde4D Haploinsufficiency Syndrome	Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity	ORPHA:439822
Occipital Horn Syndrome	Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Jaundice, Hepatitis, Cholestasis, Atypi...	ORPHA:198
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Failure to thrive, Akinesia, Truncal ataxia	OMIM:618249
White-Sutton Syndrome	Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav...	ORPHA:468678
Congenital Myopathy 12	Small for gestational age, Akinesia	OMIM:612540
Postencephalitic Parkinsonism	Akinesia, Dysphagia	ORPHA:97349
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Akinesia	OMIM:619911
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Lymphoproliferative disorder, Glomerulonephritis, Lymphocytic...	ORPHA:289390
Abcd Syndrome	Large for gestational age	OMIM:600501
Parkinson Disease 17	Akinesia	OMIM:614203
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Down Syndrome	Umbilical hernia, Type II diabetes mellitus, Obesity	ORPHA:870
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Short-Rib Thoracic Dysplasia 12	Omphalocele, Hepatomegaly, Inguinal hernia, Hamartoma of tongue, Splenomegaly, Periportal fibrosi...	OMIM:269860
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic...	OMIM:614946
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Gait disturbance...	ORPHA:500055
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Intraalv...	OMIM:222700
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Inapprop...	OMIM:618476
Carpenter Syndrome 1	Omphalocele, Precocious puberty, Obesity, Polysplenia, Camptodactyly, Umbilical hernia, Joint con...	OMIM:201000
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis...	OMIM:301072
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Impaired glucose tolerance, Small for gestational age, Insulin resistance, ...	OMIM:606721
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss	ORPHA:251071
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Hepatic steatosis, Neonatal hypoglycemia	OMIM:616271
Sotos Syndrome	Tall stature, Aggressive behavior, Cryptorchidism, Increased body weight, Glucose intolerance, Ov...	OMIM:117550
Lowe Oculocerebrorenal Syndrome	Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c...	OMIM:309000
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ataxia, Hypoglycemia, Small for gestational age, Dysmetria, Dysphagia, Truncal ataxia, Hyperglyce...	OMIM:220111
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ...	ORPHA:2331
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Otitis media, Hepatic steatosis, Abnormal repetitive mannerisms, Rest...	OMIM:619475
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hyperparathyroidism, Failure to thrive, Hypoammonemia, Abnormal repetitive manneris...	ORPHA:534
Orofaciodigital Syndrome I	Hamartoma of tongue, Pancreatic cysts, Hepatic fibrosis, Hypothalamic hamartoma, Enamel hypoplasi...	OMIM:311200
Alg9-Cdg	Omphalocele, Hepatomegaly, Lipodystrophy, Hepatic cysts, Periportal fibrosis, Hypoplasia of the o...	ORPHA:79328
Corticobasal Syndrome	Gait disturbance, Akinesia	ORPHA:454887
Digeorge Syndrome	Hepatic steatosis, Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating p...	OMIM:188400
Scorpion Envenomation	Restlessness, Ataxia, Glycosuria, Hyperglycemia, Priapism	ORPHA:466677
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Tenorio Syndrome	Osteopenia, Gait disturbance, Hypoinsulinemia, Hypoglycemia	OMIM:616260
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Borjeson-Forssman-Lehmann Syndrome	Camptodactyly of toe, Truncal obesity	ORPHA:127
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity	ORPHA:3224
Kleefstra Syndrome	Aggressive behavior, Obesity, Self-injurious behavior, Hernia, Chronic otitis media, Abnormal rep...	ORPHA:261494
Webb-Dattani Syndrome	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Adrenocorti...	OMIM:615926
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Failure to thrive, Femoral hernia, Obesity	ORPHA:96147
Rabin-Pappas Syndrome	Overgrowth, Failure to thrive in infancy, Obesity	OMIM:620155
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Hip contracture, Large for gestational age, Seborrheic dermatitis, Birth length gre...	OMIM:300868
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:612840
Bardet-Biedl Syndrome 12	Obesity	OMIM:615989
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Hypogonadotropic hypogo...	ORPHA:79318
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Obesity, Congenital hypothyroidism,...	OMIM:607872
Nestor-Guillermo Progeria Syndrome	Decreased serum leptin, Osteoporosis, Osteolysis, Rib osteolysis, Mandibular osteolysis, Osteolyt...	OMIM:614008
African Trypanosomiasis	Akinesia, Aggressive behavior, Abnormality of the endocrine system, Narcolepsy, Splenomegaly, Abn...	ORPHA:3385
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Microvesic...	OMIM:203700
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Hepatic fibrosis	OMIM:263520
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosple...	OMIM:618278
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Umbilical hernia, Failure to thrive, Large for gestational age	OMIM:614520
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test, Obesity	ORPHA:444077
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Elbow flexion contracture, Obesity	OMIM:618493
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Phonic tics, Choreoathetosis, Gait disturbance, ...	OMIM:234200
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti...	OMIM:616078
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Obesity, Dysphagia	ORPHA:2822
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Obesity	OMIM:617296
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip...	OMIM:616541
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Type I diabetes mellitus, Dentinogenesis imperfecta, Obesity	OMIM:619269
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con...	OMIM:614098
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, Eczema, Aggressive behavior, Seborrheic dermatitis, Tongue thrus...	ORPHA:369950
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Fetal Akinesia Deformation Sequence	Cryptorchidism, Akinesia	ORPHA:994
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Inflammation of th...	ORPHA:70591
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis, Decreased body weight	OMIM:617306
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Hepatic steatosis	OMIM:619321
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Umbilical hernia, Hiatus hernia	OMIM:619769
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Attention deficit hyperac...	ORPHA:466950
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Hyperactivity, Eczema, Aggressive behavior, Precocious puberty, Splenomegaly, Chole...	OMIM:270400
3Q29 Microduplication Syndrome	Camptodactyly of toe, Obesity	ORPHA:251038
Achondroplasia	Obesity	ORPHA:15
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Dpagt1-Cdg	Ataxia, Akinesia, Aggressive behavior, Inability to walk, Osteoporosis, Head-banging, Stereotypic...	ORPHA:86309
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity, Low alkalin...	ORPHA:369837
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Obesity, Hypogonadism	OMIM:614231
Osteopetrosis, Autosomal Dominant 2	Generalized osteosclerosis, Osteopetrosis	OMIM:166600
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv...	ORPHA:319213
Microcephalic Primordial Dwarfism, Dauber Type	Obesity	ORPHA:319675
Heart Defects, Congenital, And Other Congenital Anomalies	Failure to thrive, Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Stomatitis, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipi...	OMIM:232240
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi...	ORPHA:177907
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Gluco...	OMIM:619127
Cohen Syndrome	Small for gestational age, Childhood-onset truncal obesity	OMIM:216550
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Acne, Abnormal dental enamel morphology, Se...	ORPHA:567
Chops Syndrome	Splenomegaly, Obesity, Aspiration pneumonia	OMIM:616368
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ...	ORPHA:466943
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C...	ORPHA:564
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu...	OMIM:259720
Joubert Syndrome 39	Overweight, Joint contracture of the 5th finger	OMIM:619562
Ulnar-Mammary Syndrome	Camptodactyly of finger, Hernia of the abdominal wall, Obesity	ORPHA:3138
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Combined Oxidative Phosphorylation Deficiency 15	Inguinal hernia, Obesity	OMIM:614947
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Ost...	ORPHA:2968
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Attention deficit hyperactivity disorder	OMIM:619934
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Pilom...	ORPHA:353281
Diamond-Blackfan Anemia 21	Obesity	OMIM:620072
Cohen Syndrome	Failure to thrive in infancy, Obesity	ORPHA:193
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus	OMIM:210720
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis	OMIM:618541
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture, Knee f...	OMIM:619503
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hepatic steatosis, Hypertriglyceridemia, Hypogonadotropic hy...	ORPHA:3455
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Abnormal repetitive mannerisms, Obesity	OMIM:618653
Supranuclear Palsy, Progressive, 2	Falls, Gait imbalance, Akinesia, Dysphagia	OMIM:609454
Osteopathia Striata-Cranial Sclerosis Syndrome	Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular...	ORPHA:2780
White-Kernohan Syndrome	Recurrent otitis media, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder	OMIM:619426
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Truncal obesity, Attention deficit hyperactivity disorder	ORPHA:2637
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Ogden Syndrome	Inguinal hernia, Eczema, Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Jaund...	OMIM:300855
Desmosterolosis	Splenomegaly, Increased bone mineral density, Failure to thrive, Osteopetrosis	ORPHA:35107
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Poikilocytosis, Akinesia, Acanthocytosis	OMIM:618947
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Supranuclear Palsy, Progressive, 1	Falls, Gait imbalance, Akinesia, Dysphagia	OMIM:601104
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia	OMIM:616840
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Increased circulating gonadotropin level, Obesity, Gonadoblastoma, Delayed puberty,...	ORPHA:1772
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b...	ORPHA:529962
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Williams-Beuren Syndrome	Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Portal hypertens...	OMIM:194050
Monosomy 22Q13.3	Hyperactivity, Recurrent skin infections, Hair-pulling, Obesity, Bruxism, Umbilical hernia, Recur...	ORPHA:48652
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Weight loss, Reduced bone minera...	ORPHA:740
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Rubinstein-Taybi Syndrome 1	Accessory spleen, Hyperactivity, Small for gestational age, Impulsivity, Premature thelarche, Ena...	OMIM:180849
Williams Syndrome	Inguinal hernia, Failure to thrive in infancy, Elevated circulating creatine kinase concentration...	ORPHA:904
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Pilom...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Pilom...	ORPHA:353277
Kabuki Syndrome	Failure to thrive, Obesity, Congenital diaphragmatic hernia	ORPHA:2322
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cryptorchidism, Cranial hyperostosis, Hypogonadism, Osteopetrosis...	ORPHA:2658
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Thrombocytopenia, Leukopenia, Elliptocytosis, Osteopetrosis, Secondary hyperparathy...	ORPHA:2785
Primrose Syndrome	Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circul...	OMIM:259050
Witteveen-Kolk Syndrome	Hyperactivity, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s...	OMIM:613406
Tako-Tsubo Cardiomyopathy	Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration	ORPHA:66529
Myhre Syndrome	Small for gestational age, Obesity, Camptodactyly	OMIM:139210
6Q Terminal Deletion Syndrome	Failure to thrive, Obesity	ORPHA:75857
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Failure to thrive, Eczema, Obesity, Pseudohypoparathyroidism	OMIM:617157
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic...	ORPHA:244242
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Anemia	OMIM:612301
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Congenital hepatic fibrosis	ORPHA:93271
Carpenter Syndrome 2	Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture	OMIM:614976
Ulnar-Mammary Syndrome	Inguinal hernia, Elbow flexion contracture, Obesity	OMIM:181450
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Truncal obesity, Compulsive behaviors, Attention deficit hyperac...	ORPHA:199
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Truncal obesity, Camptodactyly, Failure to thrive, Abnormal repetitive m...	OMIM:612474
Autosomal Recessive Malignant Osteopetrosis	Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis, Anemia	ORPHA:667
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hyperactivity, Hypogonadism, Paroxysmal bursts of laughter, Obesity	OMIM:309580
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp...	OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mc4r

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mc4r.

No publications found that use IMPC mice or data for Mc4r.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Mc4r^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Mc4r^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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