Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
peroxisomal biogenesis factor 11 alpha
Synonyms:
PEX11alpha

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 Pex11a 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 Pex11a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest... OMIM:615703
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hypercholesterolemia, Elevated circulating hepatic transaminase concent... OMIM:616829
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Obesity And Hypopigmentation
Obesity, Hepatic steatosis, Overgrowth OMIM:620195
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase ... OMIM:620357
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circ... OMIM:605911
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port... OMIM:605814
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity OMIM:614662
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:71212
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Hepatic steatosis, Elevated circulating hepatic transaminase con... OMIM:618400
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen... OMIM:612526
Patent Ductus Venosus
Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis OMIM:601466
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypocalcemia, Hy... ORPHA:26793
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure... OMIM:278000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:619048
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... ORPHA:209919
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... ORPHA:890
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine c... OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis ORPHA:280356
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Abnormal circulating selenium concentration ORPHA:171706
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Elevated circulating acylcarnitine concentration ORPHA:26792
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Obesity, Hyperlipidemia OMIM:617885
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:369
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Hepatomegaly, Hepatic steatosis OMIM:615238
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Cholestasis, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Cholestasis, Obesity ORPHA:71526
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hepatic steatosis, Hyperalaninemia OMIM:615918
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly... OMIM:619013
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypochol... ORPHA:71
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Acute pancreatit... ORPHA:444490
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat... ORPHA:247585
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:614582
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Elevated transferrin saturation, Increased circulating ferritin concentr... OMIM:606069
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Increased circulating free fatty acid level OMIM:610768
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis OMIM:615996
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Obesity, Overweight, Truncal obesity, Small for gesta... OMIM:616222
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis OMIM:608709
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating he... ORPHA:264580
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Hepatic steatosis ORPHA:79085
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity, Decreased circulating cortisol level, Cholestasis OMIM:609734
Adiposis Dolorosa
Obesity OMIM:103200
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Failure to thrive, Proportio... ORPHA:528
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Microvesicular hepatic steatosis, Re... OMIM:212140
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperuricemia, Hepatic ... OMIM:604367
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hepatic steatosis ORPHA:363400
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Abdominal obesity... OMIM:615812
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Bardet-Biedl Syndrome 21
Obesity, Overweight, Elevated circulating hepatic transaminase concentration OMIM:617406
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:435651
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorma... ORPHA:369840
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... OMIM:255120
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Morm Syndrome
Truncal obesity ORPHA:75858
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis ORPHA:2377
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elev... OMIM:615381
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminot... OMIM:617093
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplas... ORPHA:79644
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Immunodeficiency 61
Obesity OMIM:300310
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... ORPHA:228305
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Proprotein Convertase 1/3 Deficiency
Obesity, Decreased circulating cortisol level OMIM:600955
Ddost-Cdg
Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration ORPHA:300536
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Senior-Loken Syndrome 9
Hepatic fibrosis, Cholestasis, Obesity OMIM:616629
Trisomy 5P
Obesity ORPHA:1742
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... ORPHA:86816
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kinase conce... ORPHA:435660
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hepatic steatosis ORPHA:70472
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia, Class III obesity OMIM:616418
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Abdominal obesity ORPHA:631
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Biliary tract abnormality, Obesity ORPHA:3191
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Obesity, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:615630
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Decreased circulating chenodeoxycholic acid concentration, Periportal fibrosis, Elev... OMIM:619481
Mehmo Syndrome
Obesity, Small for gestational age OMIM:300148
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:99901
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero... OMIM:300972
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Splenomegaly, Hepatic... ORPHA:79083
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Increased circulating cortisol level OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Truncal... OMIM:610475
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Hyperlipidemia, Hyperaldosteronism, Abdominal obesity, Paradoxical increas... ORPHA:189427
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul... OMIM:201475
Morgagni-Stewart-Morel Syndrome
Obesity, Hypercholesterolemia, Hyperuricemia ORPHA:77296
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Obesity, Hypercholesterolemia, Truncal obesity, Small for gestational age ORPHA:96184
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Hyperuricemia, Increased hepatic glycogen conten... OMIM:261750
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Tall stature, Pancreatitis, Hyperhomocystinemia, Failure to thrive, Disproportionate tall stature... OMIM:236200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Low plasma citrulline,... OMIM:261680
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Azoospermia ORPHA:2183
Biemond Syndrome Type 2
Obesity ORPHA:141333
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreas... OMIM:201450
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micr... ORPHA:98907
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptid... ORPHA:276556
Aromatase Deficiency
Tall stature, Hyperlipidemia, Eunuchoid habitus, Obesity, Hepatic steatosis ORPHA:91
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Hepatic steatosis ORPHA:2348
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Focal pancreatic i... ORPHA:276575
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Mehmo Syndrome
Obesity ORPHA:85282
Summitt Syndrome
Tall stature, Obesity ORPHA:3210
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Obesity, Hepatic steatosis ORPHA:254346
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Accessory spleen, Micro... OMIM:619418
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Obesity ORPHA:66628
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Mody
Large for gestational age, Hepatocellular adenoma, Abnormal circulating C-peptide concentration, ... ORPHA:552
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas... OMIM:610198
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... ORPHA:79322
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma,... ORPHA:2088
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Obesity ORPHA:179494
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... ORPHA:263455
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Acute pa... ORPHA:79086
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia, Increased body weight, Elevated circulating hepatic transaminas... ORPHA:94086
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M... OMIM:617156
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Hepatomegaly, Increased C-peptide level, Decreased circulating free fa... ORPHA:324575
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
Osteootohepatoenteric Syndrome
Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Microvesicular hepatic ste... OMIM:619377
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Overgrowth, Obesity, Splenomegaly OMIM:605309
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Baralle-Macken Syndrome
Obesity OMIM:619255
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elev... OMIM:613327
Chung-Jansen Syndrome
Obesity OMIM:617991
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly OMIM:612291
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive OMIM:210200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:228308
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Clark-Baraitser Syndrome
Obesity OMIM:617752
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Elevated circulating crea... ORPHA:98855
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Lysosomal Acid Lipase Deficiency
Decreased liver function, Xanthelasma, Hypertriglyceridemia, Jaundice, Elevated circulating hepat... ORPHA:275761
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Rafiq Syndrome
Obesity, Truncal obesity OMIM:614202
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Polysplenia OMIM:610543
Joubert Syndrome 37
Obesity, Hepatomegaly OMIM:619185
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Pancreatic islet-cell hyperplasia ORPHA:276608
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Weight loss ORPHA:1332
Laurence-Moon Syndrome
Obesity OMIM:245800
14Q11.2 Microduplication Syndrome
Obesity ORPHA:261229
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... OMIM:203800
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity ORPHA:480907
Wagr Syndrome
Obesity ORPHA:893
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... ORPHA:98908
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:608836
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Elevated circulating alanine aminotransferase concentra... OMIM:617253
Monosomy 13Q34
Hypercalcemia, Obesity, Hepatic steatosis ORPHA:96168
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Elevated circulating crea... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Elevated circulating crea... ORPHA:261
Temple Syndrome
Obesity, Small for gestational age ORPHA:254516
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Elevated circulating crea... ORPHA:98853
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Retinitis Pigmentosa 51
Obesity OMIM:613464
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Steatorrhea, De... ORPHA:14
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity OMIM:620439
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity ORPHA:2928
Generalized Pustular Psoriasis
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... ORPHA:247353
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Obesity, Hyperproteinemia... ORPHA:90041
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... OMIM:212138
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Truncal obesity OMIM:618363
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Portal... OMIM:619487
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Primary hypercortisolism, Increased circulating cortisol level OMIM:615830
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating creatine kinase concentration ORPHA:52430
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Primary hypercortisolism, Increased circulating cortisol level OMIM:219080
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Decreas... ORPHA:541423
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity OMIM:618089
Osteogenesis Imperfecta, Type Xxiii
Truncal obesity OMIM:620639
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity ORPHA:3085
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity OMIM:615986
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
Joubert Syndrome 10
Obesity, Decreased body weight OMIM:300804
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia OMIM:616672
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity ORPHA:1035
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:608594
Carpenter Syndrome
Obesity, Polysplenia ORPHA:65759
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Obesity, Hypercholesterolemia ORPHA:819
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypocholester... OMIM:212065
Pseudopseudohypoparathyroidism
Obesity OMIM:612463
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Hyperalaninemia, Elevated circulating creatine kinase concentration OMIM:615418
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity ORPHA:2234
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Steatorrhea, Hepatomegaly, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic fibrosis... OMIM:616263
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Truncal obesity, Prim... OMIM:610489
Congenital Myopathy 9A
Obesity OMIM:618822
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr... OMIM:614924
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Distal 16P11.2 Microdeletion Syndrome
Obesity, Hyperuricemia ORPHA:261222
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Combined Oxidative Phosphorylation Deficiency 54
Obesity OMIM:619737
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity, Abnormal circulating acylcarnitine concentration OMIM:620191
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Acute pancreatitis, ... OMIM:151660
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
48,Xxyy Syndrome
Tall stature, Obesity, Azoospermia ORPHA:10
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Hypercholesterolemia OMIM:182290
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Narcolepsy Type 1
Obesity ORPHA:2073
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:269700
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age OMIM:300869
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Hyperalanin... ORPHA:348
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity, Pancreatitis, Elevated circulating hepatic transaminase concentration OMIM:619471
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity ORPHA:171839
Megalencephaly
Truncal obesity ORPHA:2477
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Hyperchole... ORPHA:79259
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic periportal necrosis, Elevated circulating glutaric acid concentra... OMIM:231680
Adrenocortical Carcinoma
Elevated serum 11-deoxycortisol, Hypokalemia, Increased body weight, Hyperaldosteronism, Weight l... ORPHA:1501
Shox-Related Short Stature
Obesity ORPHA:314795
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:261515
Leptin Receptor Deficiency
Obesity OMIM:614963
Intellectual Developmental Disorder, X-Linked 12
Truncal obesity, Small for gestational age, Increased body mass index OMIM:300957
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity OMIM:615547
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Spleno... ORPHA:280365
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... OMIM:229600
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating C-reactive protei... OMIM:619573
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity OMIM:618430
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Hepatic steatosis OMIM:614922
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity OMIM:614613
15Q24 Microdeletion Syndrome
Failure to thrive, Obesity, Small for gestational age ORPHA:94065
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Urban-Rogers-Meyer Syndrome
Obesity ORPHA:3409
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Obesity, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Chronic hepatic failure, Cholestasis, Failure to thrive in infancy, Diffuse hepatic... ORPHA:746
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Failure to thrive, Hepatomegaly, Diffuse hepatic steatosis ORPHA:436271
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Truncal obesity, Small for gestational age, Neonatal hyperbilirubinemia ORPHA:73272
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepati... OMIM:611126
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity ORPHA:2180
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentrat... ORPHA:2959
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:613658
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Hepatomegaly OMIM:618443
Pearson Syndrome
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypokalemia, ... ORPHA:699
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:412035
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity, Hepatomegaly ORPHA:163681
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Obesity, Overgrowth OMIM:620250
Ring Chromosome Y Syndrome
Obesity, Azoospermia ORPHA:261529
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperuricemia, A... ORPHA:20
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity OMIM:300055
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Obesity, Class III obesity, Abdomi... OMIM:176270
Perrault Syndrome 4
Obesity, Disproportionate tall stature OMIM:615300
Pseudohypoparathyroidism, Type Ia
Obesity, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity OMIM:300354
Wilson Disease
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:277900
Momo Syndrome
Large for gestational age, Tall stature, Overgrowth, Obesity ORPHA:2563
Luscan-Lumish Syndrome
Obesity, Overgrowth OMIM:616831
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Narcolepsy 7
Obesity OMIM:614250
Rabin-Pappas Syndrome
Failure to thrive in infancy, Obesity, Hyponatremia, Overgrowth OMIM:620155
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Elevated circulating hepatic transaminase concentration ORPHA:445038
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Obesity, Abdominal obesity, Hepatic fibrosis, Truncal obesity OMIM:209900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Methylmalonic acidemia, Ab... ORPHA:17
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Failure to thrive, Increased intramyocellular lipid dropl... OMIM:220110
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Xp22.13P22.2 Duplication Syndrome
Truncal obesity ORPHA:284180
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Truncal obesity ORPHA:3041
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Man1B1-Cdg
Truncal obesity ORPHA:397941
Radio-Tartaglia Syndrome
Obesity OMIM:619312
Resistance To Thyrotropin-Releasing Hormone Syndrome
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Overweight ORPHA:99832
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Abdominal obesity, Disproportionate tall stature OMIM:301039
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Obesity, Hypercalcemia ORPHA:251004
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Obesity, Hypokalemia OMIM:219090
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Obesity ORPHA:404443
Bloom Syndrome
Elevated hemoglobin A1c, Hepatic steatosis, Small for gestational age, Azoospermia OMIM:210900
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
48,Xxxy Syndrome
Tall stature, Obesity, Azoospermia ORPHA:96263
Bdv Syndrome
Obesity OMIM:619326
Momo Syndrome
Obesity, Overgrowth OMIM:157980
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy... OMIM:619991
Adiposis Dolorosa
Obesity ORPHA:36397
Desbuquois Dysplasia 1
Obesity OMIM:251450
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr... ORPHA:93111
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Elevated circulating glutaric acid concentration, Elevated circ... ORPHA:66634
Pde4D Haploinsufficiency Syndrome
Obesity ORPHA:439822
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
Insulinoma
Increased body weight, Abnormality of the pancreatic islet cells ORPHA:97279
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Carpenter Syndrome 1
Obesity, Polysplenia OMIM:201000
Fliedner-Zweier Syndrome
Obesity OMIM:620511
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Hepatomegaly, Macrovesicular hepatic steatosis, Splenomegaly OMIM:617303
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevate... OMIM:615356
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hepatic steatosis, Azotemia OMIM:619321
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypotriglyceridemia, Micro... ORPHA:404454
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Failure to thrive, Hyperammonemia, Splenomegaly, Hypolysinemia, Incre... OMIM:222700
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis OMIM:616271
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Obesity, Hypomagnesemia, Weight l... ORPHA:79102
Silver-Russell Syndrome
Cachexia, Obesity, Failure to thrive in infancy ORPHA:813
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Overgrowth,... OMIM:300868
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:261197
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Unconjugated hyperbilirubinemia, Failure to thriv... OMIM:618278
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Obesity, Hypercalcemia ORPHA:369837
Achondroplasia
Obesity ORPHA:15
Borjeson-Forssman-Lehmann Syndrome
Truncal obesity ORPHA:127
Angelman Syndrome
Obesity OMIM:105830
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hepatitis, Splenomegaly, Weight loss, Increased circulating ferritin concentration,... OMIM:615846
Den Hoed-De Boer-Voisin Syndrome
Obesity, Overweight, Decreased body weight OMIM:619229
2Q37 Microdeletion Syndrome
Obesity ORPHA:1001
Webb-Dattani Syndrome
Hypernatremia, Obesity OMIM:615926
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Obesity, Hepatosplenomegaly, Cholecystitis OMIM:301066
Sheehan Syndrome
Hyponatremia, Obesity, Decreased circulating cortisol level ORPHA:91355
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Obesity ORPHA:96147
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Decreased b... ORPHA:2298
White-Sutton Syndrome
Failure to thrive, Obesity OMIM:616364
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:619525
Kleefstra Syndrome 1
Obesity OMIM:610253
Sim1-Related Prader-Willi-Like Syndrome
Failure to thrive, Obesity, Abdominal obesity ORPHA:398079
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity ORPHA:85293
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Bardet-Biedl Syndrome
Hypertriglyceridemia, Childhood-onset truncal obesity, Decreased HDL cholesterol concentration, E... ORPHA:110
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Septo-Optic Dysplasia Spectrum
Obesity ORPHA:3157
Insulin-Like Growth Factor I, Resistance To
Decreased body weight, Truncal obesity OMIM:270450
Cohen Syndrome
Childhood-onset truncal obesity, Small for gestational age OMIM:216550
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity OMIM:618493
Chops Syndrome
Obesity, Splenomegaly OMIM:616368
Sotos Syndrome
Prolonged neonatal jaundice, Tall stature, Increased body weight, Overgrowth OMIM:117550
Retinitis Pigmentosa 74
Obesity OMIM:616562
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Hepatic failure OMIM:301072
Peripartum Cardiomyopathy
Obesity ORPHA:563
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Wagro Syndrome
Obesity OMIM:612469
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating 7-dehydrocholesterol con... OMIM:270400
3Q29 Microduplication Syndrome
Obesity ORPHA:251038
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Decreased ... OMIM:619475
Arima Syndrome
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:243910
Cohen Syndrome
Failure to thrive in infancy, Obesity ORPHA:193
Kleefstra Syndrome
Obesity ORPHA:261494
Angelman Syndrome
Obesity ORPHA:72
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight ORPHA:2822
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Truncal obesity OMIM:616541
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macr... OMIM:619127
Retinitis Pigmentosa
Obesity ORPHA:791
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Obesity, Jaundice, Elevated circulating hepatic transaminase concentration OMIM:614231
Distal Deletion 12Q
Annular pancreas, Biliary atresia, Obesity, Proportionate tall stature, Failure to thrive in infancy ORPHA:96149
White-Sutton Syndrome
Obesity ORPHA:468678
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Obesity, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79444
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Obesity, Small for gestational age ORPHA:98754
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Obesity, Small for gestational age ORPHA:98793
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Obesity OMIM:620654
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Obesity, Small for gestational age ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Obesity, Small for gestational age ORPHA:177901
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Obesity, Hyponatremia, Elevated circulating hepatic transaminase concentration ORPHA:293987
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Obesity, Abnormality of the spleen, Abnormality of the liver... ORPHA:1606
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Bi... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Bi... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Bi... ORPHA:99228
Monosomy X
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Bi... ORPHA:99226
Atypical Werner Syndrome
Hypertriglyceridemia, Failure to thrive, Decreased body weight, Hepatic steatosis ORPHA:79474