Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
G-protein coupled receptor 12
Synonyms:
Gpcr01,  Gpcr12,  Gpcr20

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gpr12 mutations

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

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

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

The table below shows human diseases predicted to be associated to Gpr12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutan... OMIM:612526
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketot... ORPHA:293964
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Decreased HDL choleste... OMIM:151660
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Congenital Generalized Lipodystrophy
Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, ... ORPHA:528
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Abnormal circulating selenium concentration, Fasting hypoglycemia ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hyperch... ORPHA:79237
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Temple Syndrome
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Hypertrigly... OMIM:616222
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Obesity, Hyperinsulinemia, Childhood-onset truncal obesity, Hypog... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Obesity, Hyperinsulinemia, Childhood-onset truncal obesity, Hypog... ORPHA:71526
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Increased LDL cholesterol concentration, Hepato... OMIM:278000
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... ORPHA:209902
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Hyperinsu... ORPHA:324575
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Laron Syndrome
Hypoglycemia, Hypercholesterolemia, Truncal obesity ORPHA:633
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hepatic stea... ORPHA:412
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr... ORPHA:890
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Morgagni-Stewart-Morel Syndrome
Obesity, Hypercholesterolemia, Hyperuricemia, Diabetes mellitus ORPHA:77296
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Mody
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... ORPHA:552
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Obesity And Hypopigmentation
Overgrowth, Obesity, Hepatic steatosis, Hyperinsulinemia OMIM:620195
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Small for g... ORPHA:96184
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... ORPHA:263501
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Transient Neonatal Diabetes Mellitus
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... OMIM:618620
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... OMIM:248370
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa... ORPHA:247585
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276575
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... ORPHA:247598
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Large for ge... ORPHA:276556
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276580
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Bi... ORPHA:3191
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity, Reactive hypoglycemia, Hypoinsulinemia OMIM:600955
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Flexion contracture, Reduced C-peptide level, Hyperglycemia OMIM:618856
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Hepatic st... ORPHA:79085
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Hyperinsulinemia OMIM:618406
Smith-Magenis Syndrome
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus... ORPHA:435660
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H... ORPHA:263455
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, ... OMIM:615238
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Mehmo Syndrome
Obesity, Small for gestational age, Hypoglycemia OMIM:300148
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Obesity, Hyperbilirubinemia, Decreased circulating cortisol level, Hypoglycemic seiz... OMIM:609734
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... ORPHA:98855
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat... OMIM:615630
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Hyperglycemia, Increased circulating cortisol level, Abdominal obesity OMIM:615954
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Increased ... OMIM:615830
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of gluteal subcutaneous adipose tiss... ORPHA:435651
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Failure to thrive, Glycosuria, Elevated circulating ... ORPHA:2088
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Keloids, Type II diabetes mellitus, Hyperinsulinemia ORPHA:3085
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Blue Diaper Syndrome
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased proinsulin:... ORPHA:94086
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... ORPHA:98863
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Obesity Due To Congenital Leptin Deficiency
Obesity, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:66628
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... ORPHA:98853
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Neonatal hypoglycemia, Abdominal obesity ORPHA:631
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ... OMIM:608612
Gaisböck Syndrome
Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem... ORPHA:90041
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:179494
Morm Syndrome
Truncal obesity ORPHA:75858
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus OMIM:615981
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity, Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Summitt Syndrome
Tall stature, Obesity, Camptodactyly of finger ORPHA:3210
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Bardet-Biedl Syndrome 21
Obesity, Overweight, Elevated circulating hepatic transaminase concentration OMIM:617406
Trisomy 5P
Obesity ORPHA:1742
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Decreased adipose tissue around ... OMIM:606721
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Immunodeficiency 61
Obesity OMIM:300310
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Temple Syndrome
Obesity, Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia ORPHA:254516
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyperinsulinemia, Pancr... OMIM:246200
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy, Hypera... OMIM:615418
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Hyperaldosteronism, Dorsocervical fat pad, Hyperlipidemia, ... ORPHA:189427
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia ORPHA:90065
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... OMIM:618363
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Bardet-Biedl Syndrome 20
Pancreatitis, Obesity, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia OMIM:619471
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis OMIM:615996
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... ORPHA:90674
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Rafiq Syndrome
Flexion contracture, Obesity, Truncal obesity OMIM:614202
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Eunuchoid habitus, Hyperlipidemia, Hepatic steatosis, ... ORPHA:91
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Fanconi-Bickel Syndrome
Hypouricemia, Intrahepatic cholestasis, Postprandial hyperglycemia, Failure to thrive, Glycosuria... OMIM:227810
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Hepatome... ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic stea... ORPHA:79259
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Prader-Willi Syndrome
Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infancy, Obesity... OMIM:176270
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity OMIM:619737
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu... OMIM:210250
Biemond Syndrome Type 2
Obesity ORPHA:141333
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
48,Xxyy Syndrome
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:10
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Arthrogryposis multiplex congenita, Hepatic steatosis, Obesity ORPHA:254346
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Chung-Jansen Syndrome
Obesity OMIM:617991
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Abnormal intrahepatic bile duct morphology, Lipoatrophy, Hypertriglyceridemia ORPHA:363618
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Hyperglycemia, Portal hypertension, Splenomegaly, C... ORPHA:465508
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Chr... OMIM:203800
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Omphalocele, Increased body mass index OMIM:614450
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Primary hypercortisolism, Pancreatitis, Truncal obesity, Pa... OMIM:610475
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Truncal obesity... ORPHA:73272
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Obesity, Eunuchoid habitus ORPHA:2234
Baralle-Macken Syndrome
Obesity OMIM:619255
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... OMIM:615453
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia OMIM:612463
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Obesity OMIM:616629
Clark-Baraitser Syndrome
Obesity OMIM:617752
Macrocephaly/Autism Syndrome
Obesity, Large for gestational age, Splenomegaly, Overgrowth, Hepatomegaly OMIM:605309
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hype... ORPHA:97279
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con... OMIM:615947
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Camptodactyly, Flexion contracture, Arthrogryposis multipl... OMIM:615547
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Diabetes mellitus OMIM:610628
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Distal 16P11.2 Microdeletion Syndrome
Obesity, Hyperuricemia ORPHA:261222
Leptin Receptor Deficiency
Obesity, Diabetes mellitus OMIM:614963
Joubert Syndrome 37
Hepatomegaly, Obesity OMIM:619185
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
15Q24 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Hernia, Small for gestational age ORPHA:94065
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Large for gestational age, Inguinal hernia, Overgrowth, Enlarged kidney OMIM:618272
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,... OMIM:609812
14Q11.2 Microduplication Syndrome
Obesity ORPHA:261229
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia OMIM:612462
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity, Abnormal circulating acylcarnitine concentration OMIM:620191
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Wagr Syndrome
Obesity ORPHA:893
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperglycemia, Hyperbilirubinemia,... OMIM:615710
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity OMIM:620439
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity OMIM:618089
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
13Q12.3 Microdeletion Syndrome
Camptodactyly, Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:412035
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618857
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Diabetes mellitus OMIM:614613
Chromosome 16P13.3 Deletion Syndrome, Proximal
Obesity, Failure to thrive, Polysplenia OMIM:610543
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Joubert Syndrome 10
Obesity, Decreased body weight OMIM:300804
Urban-Rogers-Meyer Syndrome
Obesity, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Obesity OMIM:612291
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Hypercalcemia, Enlarge... ORPHA:251004
Retinitis Pigmentosa 51
Obesity OMIM:613464
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Obesity, Hypocalcemia, ... ORPHA:247353
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Laurence-Moon Syndrome
Obesity OMIM:245800
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia, Hepatic steatosis ORPHA:96168
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Type II diabetes mellitus, Small for gestational age, Diabetes mellitus OMIM:274300
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Hypokalemia, Increased body weight, Ele... ORPHA:1501
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Obesity, Hypocalcemic tetany, Enamel hypoplasia OMIM:103580
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Decreased body weight, Lipodystrophy, Truncal obesity, Diabe... OMIM:270450
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Flexion contracture, Obesity OMIM:300055
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Pituitary Adenoma 4, Acth-Secreting
Obesity, Glucose intolerance, Hypokalemia, Abdominal obesity, Impaired glucose tolerance OMIM:219090
Narcolepsy Type 1
Obesity ORPHA:2073
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Flexion contracture of digit, Reduced subcutaneous adipose tissue, Truncal obesity ORPHA:3041
X-Linked Intellectual Disability, Hedera Type
Obesity, Left ventricular hypertrophy ORPHA:93952
Acth-Independent Macronodular Adrenal Hyperplasia
Primary hypercortisolism, Increased circulating cortisol level, Truncal obesity OMIM:219080
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Hepatomegaly ORPHA:134
Necrotizing Enterocolitis
Ascites, Hyperglycemia, Abnormal glucose homeostasis, Cyanosis, Hyponatremia, Peritonitis, Small ... ORPHA:391673
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Camptodactyly of... OMIM:175700
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran... ORPHA:404454
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Umbilical hernia ORPHA:284180
Alagille Syndrome 1
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... OMIM:118450
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Bdv Syndrome
Obesity, Type II diabetes mellitus, Hyperinsulinemia OMIM:619326
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Primary hypercortisol... OMIM:610489
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Abdominal obesity OMIM:300869
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Megalencephaly
Truncal obesity ORPHA:2477
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Truncal obesity, Increased body mass index OMIM:300957
48,Xxxy Syndrome
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:96263
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype... ORPHA:3008
Shox-Related Short Stature
Obesity ORPHA:314795
Congenital Myopathy 9A
Obesity OMIM:618822
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Obesity OMIM:601794
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity OMIM:618430
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Obesity, Umbilical hernia ORPHA:404443
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Obesity, Biliary tract abnormality, Left ventricular hypert... OMIM:209900
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Obesity OMIM:618443
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Truncal obesity, D... OMIM:616541
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Disproportionate tall stature, Abdominal obesity OMIM:301039
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Carpenter Syndrome 1
Joint contracture of the hand, Polysplenia, Umbilical hernia, Obesity, Omphalocele, Camptodactyly OMIM:201000
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hypoglycemia, Umbilical hernia, Obesity, Hepatosplenomegaly, Cholecystitis, Hepat... OMIM:301066
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Failure to thr... OMIM:309000
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperaldosteronism, Hyperinsul... ORPHA:508
Rabin-Pappas Syndrome
Hyponatremia, Overgrowth, Failure to thrive in infancy, Obesity OMIM:620155
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Large for gestational age, Overgrowth, Omphalocele, Small for gestational age ORPHA:254534
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity OMIM:300354
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:439822
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Obesity ORPHA:163681
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia ORPHA:681
2Q37 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:1001
Proximal 16P11.2 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:261197
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Kleefstra Syndrome Due To 9Q34 Microdeletion
Femoral hernia, Obesity, Inguinal hernia, Failure to thrive ORPHA:96147
White-Sutton Syndrome
Hypoglycemic seizures, Obesity, Congenital diaphragmatic hernia, Failure to thrive OMIM:616364
Momo Syndrome
Tall stature, Obesity, Large for gestational age, Overgrowth ORPHA:2563
Beckwith-Wiedemann Syndrome
Visceromegaly, Abnormal pancreas morphology, Umbilical hernia, Exocrine pancreatic insufficiency,... ORPHA:116
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala... OMIM:619534
Radio-Tartaglia Syndrome
Obesity OMIM:619312
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity, Inguinal hernia, Camptodactyly of finger ORPHA:85293
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology... ORPHA:534
Perrault Syndrome 4
Obesity, Disproportionate tall stature OMIM:615300
Man1B1-Cdg
Truncal obesity ORPHA:397941
Achondroplasia
Obesity, Hypoxemia ORPHA:15
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Obesity, Weight loss, Transient... ORPHA:79102
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Obesity, Hypoglycemia ORPHA:91355
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity ORPHA:127
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Desbuquois Dysplasia 1
Obesity OMIM:251450
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Den Hoed-De Boer-Voisin Syndrome
Obesity, Decreased body weight, Amelogenesis imperfecta, Enamel hypoplasia, Overweight OMIM:619229
Cushing Disease
Increased circulating cortisol level, Dorsocervical fat pad, Increased body weight, Truncal obesi... ORPHA:96253
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Obesity, Hip contracture OMIM:618493
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreatic hypoplasia, Glycosuri... ORPHA:99885
Peripartum Cardiomyopathy
Obesity, Diabetes mellitus, Left ventricular hypertrophy ORPHA:563
Lysinuric Protein Intolerance
Failure to thrive, Increased circulating ferritin concentration, Hyperammonemia, Splenomegaly, Pa... OMIM:222700
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Micronodular cirrhosis, Ascites, Splenomegaly, Truncal obesity, Hepatomegaly, Li... OMIM:301072
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Septo-Optic Dysplasia Spectrum
Obesity, Maternal diabetes ORPHA:3157
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Sim1-Related Prader-Willi-Like Syndrome
Obesity, Type II diabetes mellitus, Failure to thrive, Abdominal obesity ORPHA:398079
Fliedner-Zweier Syndrome
Obesity OMIM:620511
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:124000
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated circulating hepatic transaminase concentration, Hyperglycemia, Obesity, Hyperlipidemia, ... ORPHA:293987
Adiposis Dolorosa
Obesity ORPHA:36397
Sotos Syndrome
Tall stature, Glucose intolerance, Increased body weight, Overgrowth, Prolonged neonatal jaundice... OMIM:117550
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Retinitis Pigmentosa
Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Decreased liver function, Hyperglycemia, Hyperglycinemia, Cyanosis, Hypernatremia OMIM:620423
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Webb-Dattani Syndrome
Obesity, Hypernatremia OMIM:615926
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Kleefstra Syndrome
Hernia, Obesity ORPHA:261494
White-Sutton Syndrome
Ventral hernia, Obesity, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:468678
Resistance To Thyrotropin-Releasing Hormone Syndrome
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Overweight ORPHA:99832
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Annular pancreas, Maturity-onset diabetes of the young,... ORPHA:96149
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Atypical Werner Syndrome
Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem... ORPHA:79474
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Angelman Syndrome
Obesity OMIM:105830
Steinert Myotonic Dystrophy
Insulin resistance, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hype... ORPHA:273
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia, Calcinosis, Hyp... ORPHA:79444
Kleefstra Syndrome 1
Obesity OMIM:610253
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus OMIM:619269
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, De... ORPHA:110
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Obesity, Inguinal hernia, Umbilical hernia OMIM:620654
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Type II diabetes mellitus, Increased body weight, Abdominal obesity, Flexion c... ORPHA:398069
Cohen Syndrome
Childhood-onset truncal obesity, Small for gestational age OMIM:216550
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Obesity, Diabetes mellitus, Small for gestational age, Failure to thrive ORPHA:98754
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Down Syndrome
Obesity, Type II diabetes mellitus, Umbilical hernia ORPHA:870
Chops Syndrome
Obesity, Splenomegaly OMIM:616368
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obesity, Diabetes mellitus, Small for gestational age, Failure to thrive ORPHA:98793
Ulnar-Mammary Syndrome
Hernia of the abdominal wall, Obesity, Camptodactyly of finger ORPHA:3138
Bardet-Biedl Syndrome 12
Abdominal mass, Obesity OMIM:615989
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obesity, Diabetes mellitus, Small for gestational age, Failure to thrive ORPHA:177904
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... ORPHA:125
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obesity, Diabetes mellitus, Small for gestational age, Failure to thrive ORPHA:177901
Perlman Syndrome
Visceromegaly, Hypoglycemia, Ascites, Large for gestational age, Congenital diaphragmatic hernia,... OMIM:267000
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Inguinal hernia OMIM:614947
Chronic Thromboembolic Pulmonary Hypertension
Elevated circulating C-reactive protein concentration, Obesity, Increased HDL cholesterol concent... ORPHA:70591
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Pancreatic hypoplasia, Umbilical hernia, Glycosuria, Hyperglycemia, Absent gal... OMIM:600001
Angelman Syndrome
Obesity ORPHA:72
Cohen Syndrome
Failure to thrive in infancy, Obesity ORPHA:193
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Jaundice, Obesity, Elevated circulating hepatic transaminase concentration, Diabetes mellitus OMIM:614231
Wagro Syndrome
Obesity OMIM:612469
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Azotemia, Hepatic steatosis, Abdominal obesity OMIM:619321
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia, Calcinosis, Hyp... ORPHA:79443
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Type II diabetes mellitus, Enamel hypoplasia, Truncal obesity OMIM:210720
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight ORPHA:2822
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
7Q11.23 Microduplication Syndrome
Obesity, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:96121
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Pancreatic adenocarcinoma, Dorsocervical fat pad, Increased... ORPHA:99889
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99226
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Failure to ... OMIM:619475
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Inguinal hernia OMIM:618653
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis ORPHA:391665
22Q11.2 Deletion Syndrome
Cholelithiasis, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology, Obesity, ... ORPHA:567
Retinitis Pigmentosa 74
Obesity OMIM:616562
Kallmann Syndrome
Obesity ORPHA:478
Craniopharyngioma
Obesity, Type II diabetes mellitus ORPHA:54595
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Inguinal hernia, Microvesicular h... OMIM:220111
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Truncal obesity ORPHA:466950
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Obesity, Mildly elevated creatine ... ORPHA:66529
Prader-Willi Syndrome Due To Translocation
Obesity ORPHA:177907
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Kabuki Syndrome
Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:2322
Prader-Willi Syndrome
Diabetes mellitus, Failure to thrive, Abdominal obesity ORPHA:739
Helsmoortel-Van Der Aa Syndrome
Obesity, Failure to thrive, Truncal obesity, Enlarged kidney OMIM:615873
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity ORPHA:2637
Meningioma
Decreased circulating cortisol level, Obesity ORPHA:2495
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Obesity, Failure to thrive ORPHA:369950
Digeorge Syndrome
Cholelithiasis, Umbilical hernia, Obesity, Hypocalcemia, Inguinal hernia, Hepatic steatosis, Sple... OMIM:188400
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormality of the spleen, Obesity,... ORPHA:1606
Adnp Syndrome
Inguinal hernia, Truncal obesity, Umbilical hernia ORPHA:404448
Myhre Syndrome
Camptodactyly, Obesity, Small for gestational age OMIM:139210
Alström Syndrome
Insulin resistance, Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase ... ORPHA:64
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Obesity ORPHA:444077
Carney Complex
Increased circulating cortisol level, Tall stature, Dorsocervical fat pad, Increased body weight,... ORPHA:1359
Scorpion Envenomation
Glycosuria, Elevated circulating aspartate aminotransferase concentration, Hyperglycemia, Hypokal... ORPHA:466677
Williams Syndrome
Cholelithiasis, Abnormal circulating lipid concentration, Umbilical hernia, Abnormal dental ename... ORPHA:904
White-Kernohan Syndrome
Obesity OMIM:619426
Williams-Beuren Syndrome
Umbilical hernia, Failure to thrive in infancy, Obesity, Glucose intolerance, Portal hypertension... OMIM:194050
Xq21 Microdeletion Syndrome
Obesity ORPHA:1435
Monosomy 22Q13.3
Obesity, Umbilical hernia ORPHA:48652
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Rubinstein-Taybi Syndrome 1
Accessory spleen, Keloids, Failure to thrive, Enamel hypoplasia, Truncal obesity, Hepatic hemangi... OMIM:180849
Hellp Syndrome
Increased body weight, Elevated circulating hepatic transaminase concentration ORPHA:244242
6Q Terminal Deletion Syndrome
Obesity, Failure to thrive ORPHA:75857
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Truncal obesity ORPHA:529962
Witteveen-Kolk Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia, Congenital diaphragmatic hernia, Contracture... OMIM:613406
Carpenter Syndrome 2
Camptodactyly, Obesity, Knee flexion contracture, Umbilical hernia OMIM:614976
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Obesity, Keloids, Failure to thrive ORPHA:353281
Ulnar-Mammary Syndrome