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Gene: Ezh2 MGI:107940

Gene Summary

Name:

enhancer of zeste 2 polycomb repressive complex 2 subunit

Synonyms:

Enx1h, Enx-1, KMT6

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating triglyceride level		Ezh2^{tm1a(EUCOMM)Wtsi}	HET		Early adult	8.75×10^-08
increased lumbar vertebrae number		Ezh2^{tm1a(EUCOMM)Wtsi}	HET		Early adult	4.90×10^-06

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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.

Legacy Phenotype Associated Images

Ezh2^{tm1a(EUCOMM)Wtsi}
body, WT, Male, WTSI

Ezh2^{tm1a(EUCOMM)Wtsi}
head, WT, Male, WTSI

Ezh2^{tm1a(EUCOMM)Wtsi}
forearm, WT, Male, WTSI

View all 409 images

Human diseases caused by Ezh2 mutations

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

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

Human diseases associated with Ezh2 (2 diseases)
Human diseases predicted to be associated with Ezh2 (379 diseases)

The table below shows human diseases associated to Ezh2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Weaver Syndrome		Tall stature, Hypoplasia of penis	ORPHA:3447
Weaver Syndrome		Overgrowth	OMIM:277590

The table below shows human diseases predicted to be associated to Ezh2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Cervical Rib	Cervical ribs	OMIM:117900
Fish-Eye Disease	Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr...	OMIM:136120
Polycystic Kidney Disease 5	Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,...	OMIM:617610
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Enlarged kidney, Anemia, Extramedullary hematopoiesis, Hepatomegaly, Failure to thriv...	OMIM:615285
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:253240
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia	OMIM:232700
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hepatorenocardiac Degenerative Fibrosis	Hepatosplenomegaly, Renal interstitial fibrosis, Hepatocellular carcinoma, Jaundice, Enlarged kid...	OMIM:619902
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Nephronophthisis 16	Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kid...	OMIM:615382
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi...	ORPHA:79506
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Scoliosis, Elevated circulating cr...	OMIM:616516
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Congenital Megacalycosis	Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R...	ORPHA:93109
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Immunodeficiency, Common Variable, 6	Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t...	OMIM:613496
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia, Neonatal death	OMIM:265430
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent lower respiratory tract infections, Recurrent pneumonia, Bronchiectasis, R...	OMIM:616726
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Bardet-Biedl Syndrome 11	Abnormality of the kidney, Obesity	OMIM:615988
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr...	OMIM:615703
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:610947
Bardet-Biedl Syndrome 10	Obesity, Renal insufficiency, Renal cyst	OMIM:615987
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity	OMIM:615995
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Hyperlipidemia, Familial Combined, 3	Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ...	OMIM:144250
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Overgrowth, Nephroblastoma, Large for gestational age, Enlarged kidney	OMIM:618272
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity	ORPHA:88643
Hemoglobin H Disease	HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly	OMIM:613978
Bardet-Biedl Syndrome 19	Hydronephrosis, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Renal in...	OMIM:615996
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Acute kidney injury, Enlarged kidney, Chronic kidney dise...	ORPHA:85445
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia	ORPHA:46532
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Asplenia, Cholestasis, Hepatic fibros...	OMIM:615415
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Nephronophthisis 2	Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar...	OMIM:602088
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Meconium Aspiration Syndrome	Transient pulmonary infiltrates, Aspiration pneumonia, Atelectasis, Intrauterine growth retardati...	ORPHA:70588
Renal Dysplasia	Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi...	ORPHA:93108
Hepatic Veno-Occlusive Disease	Jaundice, Renal insufficiency, Hepatomegaly, Increased body weight, Ascites	ORPHA:890
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ...	OMIM:263200
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Acute Interstitial Pneumonia	Ground-glass opacification, Reticulonodular pattern on pulmonary HRCT, Pleural effusion, Atelecta...	ORPHA:79126
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Nesidioblastosis, Large for gestational age	OMIM:601820
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:256450
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr...	OMIM:607616
Familial Nasal Acilia	Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections	ORPHA:922
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Atrial septal defect, Chole...	OMIM:208540
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Carcinoma Of Esophagus	Lymphadenopathy, Weight loss, Obesity	ORPHA:70482
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia, Restrictive cardiomyopathy...	OMIM:607685
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation...	OMIM:616217
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Adenocarcinoma Of The Esophagus	Lymphadenopathy, Obesity	ORPHA:99976
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly, Lymphocytosis	OMIM:606445
Bardet-Biedl Syndrome 16	Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Renal dysplasia, Renal agenesis,...	OMIM:615993
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Anemia, Hepatomegaly, Nephropathy, Lymphadenopath...	ORPHA:100024
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Immunodeficiency 16	Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia	OMIM:615593
Bronchopulmonary Dysplasia	Abnormal lung morphology, Pulmonary sequestration, Atelectasis, Emphysema	ORPHA:70589
Beta-Thalassemia, Dominant Inclusion Body Type	Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre...	OMIM:603902
Mast Cell Sarcoma	Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Weight loss	ORPHA:66661
Asbestos Intoxication	Ground-glass opacification, Atelectasis, Interlobular septal thickening, Pulmonary fibrosis, Pleu...	ORPHA:2302
Bardet-Biedl Syndrome 8	Renal dysplasia, Situs inversus totalis, Obesity, Hypospadias	OMIM:615985
Tyrosinemia Type 1	Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria	ORPHA:882
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Hyperechogenic kidneys, Pericardial effusion, Enlarged kidney	OMIM:613885
Erythroleukemia, Familial, Susceptibility To	Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel...	OMIM:133180
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr...	OMIM:618620
Hypobetalipoproteinemia, Familial, 1	Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest...	OMIM:615558
Autosomal Dominant Polycystic Kidney Disease	Recurrent urinary tract infections, Polycystic liver disease, Stage 5 chronic kidney disease, Enl...	ORPHA:730
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency 69	Hepatosplenomegaly, Leukocytosis, Anemia, Failure to thrive, Pancytopenia, Thrombocytosis, Spleno...	OMIM:618963
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Hyperbilirubinemia, Shunt, Primary	Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ...	OMIM:237800
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem...	OMIM:207750
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ground-glass opacification, Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis, El...	OMIM:610978
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Atrial septal defect, Anemia, Perimembranous ventricular septal defect...	OMIM:620135
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:603552
Amyloidosis, Familial Visceral	Proteinuria, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly	OMIM:105200
Attrv30M Amyloidosis	Abnormal renal physiology, Cardiomyopathy, Nephropathy, Cardiomegaly, Weight loss	ORPHA:85447
Bronchogenic Cyst	Atelectasis, Abnormal pleura morphology, Bronchogenic cyst, Pulmonary cyst, Pneumonia, Abnormal p...	ORPHA:2357
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Hypersensitivity pneumonitis, Parenchymal consolidation, Pleural effusion, Abnormal ...	ORPHA:2902
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Respiratory tract infection, Pneumonia, Atelectasis	ORPHA:70587
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia	OMIM:615863
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Large for gestational age, Obesity	OMIM:240900
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Atelectasis, Neonatal death	OMIM:300219
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:300635
Citrullinemia, Type Ii, Neonatal-Onset	Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci...	OMIM:605814
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity	OMIM:184700
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Scoliosis, Hypoalbuminemia	OMIM:619013
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Bronchitis, Atelectasis, Recurrent pneumonia, Pneumonia	ORPHA:3348
Heterotaxy, Visceral, 1, X-Linked	Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Atrial sept...	OMIM:306955
Summitt Syndrome	Obesity	OMIM:272350
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Proteinuria, Leukopenia, Enlarged kidney, Atrial septal defect, Anemia, Bo...	OMIM:617303
Vertebral Hypersegmentation And Orofacial Anomalies	Supernumerary ribs, Six lumbar vertebrae	OMIM:619122
Recurrent Respiratory Papillomatosis	Recurrent pneumonia, Abnormal lung morphology, Atelectasis, Recurrent upper respiratory tract inf...	ORPHA:60032
Obesity And Hypopigmentation	Overgrowth, Hepatic steatosis, Obesity	OMIM:620195
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Scoliosis, Kyphosis, Elevated circulating creatine kinas...	ORPHA:98855
Nephronophthisis 15	Nephronophthisis, Obesity	OMIM:614845
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Hemivertebrae, Block vertebrae	OMIM:271520
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Scoliosis, Short neck, Kyphosis, Elevated circulating cr...	ORPHA:98863
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Enlarged kidney, Abnormal spleen morphology, Anemia, Multiple renal cysts, Ab...	ORPHA:464329
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Hepatomegaly, Splenomegaly	OMIM:617068
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Bardet-Biedl Syndrome 4	Obesity, Abnormality of the kidney, Renal cyst	OMIM:615982
Temple Syndrome	Hypertriglyceridemia, Scoliosis, Hypercholesterolemia	OMIM:616222
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Proteinuria, Enlarged kidney, Macroscopic hematuria, Membranoprolifera...	ORPHA:251004
Tyrosinemia, Type I	Hepatocellular carcinoma, Nephrocalcinosis, Enlarged kidney, Anemia, Renal Fanconi syndrome, Rena...	OMIM:276700
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Scoliosis, Kyphosis, Elevated circulating creatine kinas...	ORPHA:98853
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Scoliosis, Kyphosis, Elevated circulating creatine kinas...	ORPHA:261
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperargininemia, Hyperammonemia, Elevated plasma citrulline	OMIM:603471
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Dextrocardia, Enlarged kidney, Atrioventricular canal defect, Urethral atresia, T...	OMIM:314390
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia	ORPHA:79085
Tangier Disease	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	OMIM:205400
Glycogen Storage Disease Ib	Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan...	OMIM:232220
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Renal insufficiency, Hepatomegaly, ...	OMIM:608836
Smith-Magenis Syndrome	Hypertriglyceridemia, Scoliosis, Hypercholesterolemia	OMIM:182290
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Scoliosis, Kyphosis	OMIM:615381
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly	OMIM:224100
Non Rare In Europe: Central Precocious Puberty	Obesity, Overgrowth, Increased body weight	ORPHA:759
Meacham Syndrome	Dextrocardia, Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Horseshoe kidney, Ve...	OMIM:608978
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Beckwith-Wiedemann Syndrome	Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Cardiomyopathy, Overgrowth, Hepatomegaly...	OMIM:130650
Hyperlipoproteinemia, Type Id	Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Hypertriglyceridemia, Decreased HD...	OMIM:615947
Bardet-Biedl Syndrome 2	Obesity, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia...	ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc...	OMIM:267700
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Atelectasis, Respiratory tract infection, Pulmonary situs amb...	ORPHA:244
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia	OMIM:604367
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin...	ORPHA:567548
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Wilson Disease	Acute hepatitis, Jaundice, Anemia, Hepatomegaly, Cirrhosis, Failure to thrive, Hepatitis, Thrombo...	ORPHA:905
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Abnormal heart morphology, Obesity	ORPHA:254525
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Recurrent urinary tract infections, He...	ORPHA:731
Hyperlipoproteinemia, Type I	Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent...	OMIM:238600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hyperbilirubinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated ...	ORPHA:158057
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Ventricular septal defect, Overgrowth, Abnormal heart morphology, Post...	ORPHA:254534
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Polysplenia, Pancreatic fibrosis, Cystic renal d...	OMIM:200995
Citrullinemia Type Ii	Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip...	ORPHA:247585
Diaphanospondylodysostosis	Enlarged kidney, Horseshoe kidney, Nephroblastomatosis, Abnormal liver lobulation, Cystic renal d...	OMIM:608022
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia	ORPHA:435651
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, N...	OMIM:615630
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Enlarged tonsils, Large for gestational age, Increased hepatic glycogen content	ORPHA:293964
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Ciliary Dyskinesia, Primary, 1	Recurrent bronchitis, Bronchiectasis, Pneumonia, Atelectasis	OMIM:244400
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Smith-Magenis Syndrome	Hypertriglyceridemia, Scoliosis, Hypercholesterolemia, Abnormal form of the vertebral bodies	ORPHA:819
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Failure to thrive, Mediastinal lymphadenopathy, Weight loss	ORPHA:79128
Erythrocytosis, Familial, 8	Increased hemoglobin, Increased hematocrit, Splenomegaly, Polycythemia	OMIM:222800
Glycogen Storage Disease Ia	Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan...	OMIM:232200
Cardiac-Urogenital Syndrome	Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Penoscrotal hypospadias, Micropenis, Enlarg...	OMIM:618280
Bardet-Biedl Syndrome 3	Renal hypoplasia, Obesity	OMIM:600151
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:277460
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Spherocytosis, Type 5	Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Lumbar hyperlordosis, Elevated circulat...	OMIM:615980
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Cholestasis, Hepatic fibrosis, Neph...	OMIM:616629
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Nephroblastoma, Enlarged kidney, Overgrowth	ORPHA:276280
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Pulmonic valve myxoma, Cholestasis, Cardiac myxoma, Cardiomegal...	ORPHA:615
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Heparan sulfate excretion in urine, Proteinuria, Leukopenia, Enlarged kidney,...	ORPHA:505248
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,...	OMIM:618052
Bardet-Biedl Syndrome 21	Horseshoe kidney, Overweight, Obesity	OMIM:617406
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Ground-glass opacification, Atelectasis, Recurrent lower respiratory tract infections, Bronchiect...	OMIM:620233
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Igg4-Related Kidney Disease	Enlarged kidney, Urethritis, Albuminuria, Abnormality of mesentery morphology, Sclerosing cholang...	ORPHA:449395
Postaxial Acrofacial Dysostosis	Supernumerary vertebrae	OMIM:263750
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Bifid ureter, Enlarged kidney, Ventricular septal defect, Chronic neut...	ORPHA:500095
Sickle Cell Disease	Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Renal insufficiency, ...	OMIM:603903
Beckwith-Wiedemann Syndrome	Polycythemia, Enlarged kidney, Multiple renal cysts, Hepatomegaly, Hypertrophic cardiomyopathy, N...	ORPHA:116
Anemia, Congenital Dyserythropoietic, Type Ia	Anisocytosis, Bite cells, Small for gestational age, Reticulocytosis, Hemolytic anemia, Hepatomeg...	OMIM:224120
Waardenburg Syndrome, Type 1	Supernumerary vertebrae, Supernumerary ribs	OMIM:193500
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal pulmonary valve morphology, Small for gestational age, Abnormal ventriculoarterial conne...	ORPHA:860
Cholesteryl Ester Storage Disease	Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest...	OMIM:278000
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body weight, Increased body mass index, Anemia	OMIM:614450
Macrocephaly/Autism Syndrome	Penile freckling, Large for gestational age, Overgrowth, Hepatomegaly, Lymphopenia, Splenomegaly,...	OMIM:605309
Denys-Drash Syndrome	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro...	OMIM:194080
Dysbetalipoproteinemia	Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr...	ORPHA:412
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia	ORPHA:528
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Increased myocardial glycogen content, Cardiomyopathy, Biventricular hypertrophy...	OMIM:261740
Alstrom Syndrome	Scoliosis, Hyperuricemia, Kyphosis, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:203800
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
3Q29 Microdeletion Syndrome	Six lumbar vertebrae	ORPHA:65286
Macrophage Activation Syndrome	Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti...	ORPHA:158061
Cutis Laxa, Autosomal Recessive, Type Ic	Death in childhood, Atelectasis, Umbilical hernia, Pulmonary hypoplasia, Death in infancy, Periph...	OMIM:613177
Farber Disease	Nodular pattern on pulmonary HRCT, Diffuse reticular or finely nodular infiltrations, Atelectasis...	ORPHA:333
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Cryohydrocytosis	Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:185020
H Syndrome	Hepatosplenomegaly, Abnormality of the kidney, Micropenis, Enlarged kidney, Histiocytosis, Microc...	ORPHA:168569
Blue Diaper Syndrome	Blue urine, Nephrocalcinosis, Increased body weight	ORPHA:94086
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Werner Syndrome	Elevated hemoglobin A1c, Hypertriglyceridemia, Low back pain	OMIM:277700
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia	OMIM:617441
Lipodystrophy, Congenital Generalized, Type 4	Scoliosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Hypertriglyceride...	OMIM:613327
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Dehydrated Hereditary Stomatocytosis 2	Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo...	OMIM:616689
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:619313
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Hepatocellular carcinoma, Proteinuria, Nephrocalcinosis, E...	ORPHA:79259
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Nephropathy, Hypospadias, Nephroblastoma, Obesity	OMIM:194072
Mucolipidosis Ii Alpha/Beta	Mucopolysacchariduria, Enlarged kidney, Severe postnatal growth retardation, Hepatomegaly, Failur...	OMIM:252500
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Atelectasis	ORPHA:2314
Congenital Tricuspid Valve Dysplasia	Small for gestational age, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse,...	ORPHA:555874
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Proteinuria, Nephrocalcinosis, Glycosuria, Hepatomegaly, Aminoaciduria, Hyperphosphaturia, Large ...	OMIM:616026
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Bardet-Biedl Syndrome 6	Obesity, Hypospadias, Renal cyst	OMIM:605231
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating ferritin ...	OMIM:603553
Short-Rib Thoracic Dysplasia 12	Atelectasis, Pulmonary hypoplasia, Intrauterine growth retardation, Anencephaly, Neonatal death	OMIM:269860
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Vesicoureteral reflux, Renal agen...	ORPHA:261222
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ...	OMIM:235700
Alg9-Cdg	Hydronephrosis, Enlarged kidney, Hypoplasia of the bladder, Ventricular septal defect, Atrial sep...	ORPHA:79328
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Increased body weight	ORPHA:276608
Spherocytosis, Type 4	Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly	OMIM:612653
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Glycosuria, Renal Fanconi syndrome, Pancreatic islet-cell hyperplasia, Hepatomegaly,...	ORPHA:263455
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Pulmonary lymphangiomyomatosis, Emphysema, Pneumot...	ORPHA:538
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Splenic cyst, Enlarged kidney	OMIM:618188
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Spherocytosis, Type 1	Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly	OMIM:182900
Microtriplication 11Q24.1	Hyperlipidemia, Scoliosis, Short neck	ORPHA:289522
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular carcinoma, Increased body weight, Hepatocellular adenoma, Anemia, Hepatic fibrosis...	ORPHA:79240
Low Phospholipid-Associated Cholelithiasis	Hepatocellular carcinoma, Cholangitis, Overweight, Liver abscess, Neoplasm of the liver, Intrahep...	ORPHA:69663
Elliptocytosis 1	Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia	OMIM:611804
Mody	Pancreatic hypoplasia, Abnormality of the kidney, Overweight, Hepatocellular adenoma, Glycosuria,...	ORPHA:552
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia	ORPHA:540
Leprechaunism	Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Enlarged ovaries, Hypercalciuria, Failure to thr...	ORPHA:508
Spherocytosis, Type 2	Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly	OMIM:616649
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Increased body weight, Anemia, Cholest...	ORPHA:264580
Bardet-Biedl Syndrome 17	Situs inversus totalis, Dextrocardia, Stage 5 chronic kidney disease, Micropenis, Renal cyst, Pol...	OMIM:615994
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:619802
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney	OMIM:613091
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Whim Syndrome	Atelectasis, Respiratory tract infection, Recurrent pneumonia, Bronchiectasis, Pneumonia, Recurre...	ORPHA:51636
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased urinary cortisol level, Increased body weight	OMIM:615954
Pseudohypoparathyroidism, Type Ib	Low urinary cyclic AMP response to PTH administration, Obesity	OMIM:603233
Bardet-Biedl Syndrome 12	Hydronephrosis, Abdominal mass, Hydroureter, Cystic renal dysplasia, Obesity	OMIM:615989
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Ogden Syndrome	Global glomerulosclerosis, Polycystic kidney dysplasia, Secundum atrial septal defect, Jaundice, ...	OMIM:300855
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia, Ketonuria, Aminoaciduri...	OMIM:614520
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	ORPHA:370
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Microphallus, Enlarged kidney, Hypospadias	OMIM:612651
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia	OMIM:618183
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Atelectasis, Recurrent pneumonia, Bronchiectasis, Pulmonary art...	OMIM:615067
Gaucher Disease, Type Iiic	Hepatomegaly, Splenomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Mitral stenos...	OMIM:231005
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Death in childhood, Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis	OMIM:618278
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Enuresis nocturna, Enlarged kidney, Atrial septal defect, Tru...	OMIM:615873
Classical-Like Ehlers-Danlos Syndrome Type 2	Sacral dimple, Kyphosis, Hypertriglyceridemia, Thoracic scoliosis, Kyphoscoliosis	ORPHA:536532
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Horseshoe kidney, Micropenis, Increased body weight	OMIM:300860
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Zygomycosis	Atelectasis, Air crescent sign, Pulmonary infiltrates, Pneumothorax, Acute infectious pneumonia, ...	ORPHA:73263
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Repeated pneumothoraces, Pulmonary hypoplasia, Atelectasis	ORPHA:536467
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Duplication of renal pelvis, Ventricular septal defect, Atrial septal defect, Ca...	OMIM:312870
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration	ORPHA:444490
Granulomatous Disease, Chronic, X-Linked	Pleural effusion, Recurrent pneumonia, Atelectasis, Air bronchogram	OMIM:306400
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Steatorrhea, Hyperala...	ORPHA:470
Lujo Hemorrhagic Fever	Atelectasis	ORPHA:319213
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Recurrent lower respiratory tract infections, Atelectasis	ORPHA:258
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98907
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration	ORPHA:79086
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Scoliosis, Hypercalcemia	ORPHA:369837
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight	OMIM:274300
Joubert Syndrome 8	Hepatomegaly, Prolonged neonatal jaundice, Obesity	OMIM:612291
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration	ORPHA:280365
Joubert Syndrome 39	Polycystic kidney dysplasia, Overweight, Hypoplastic left heart	OMIM:619562
Seckel Syndrome 10	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:617253
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:151660
Sotos Syndrome	Abnormality of the kidney, Atrial septal defect, Ventricular septal defect, Overgrowth, Prolonged...	OMIM:117550
Gaisböck Syndrome	Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch...	ORPHA:90041
22Q11.2 Deletion Syndrome	Occipital myelomeningocele, Atelectasis, Spina bifida, Meningocele, Umbilical hernia, Intrauterin...	ORPHA:567
Lysosomal Acid Lipase Deficiency	Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia	ORPHA:275761
Nephrotic Syndrome, Type 1	Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia	OMIM:256300
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia	ORPHA:86816
Oculocerebrorenal Syndrome Of Lowe	Umbilical hernia, Death in infancy, Atelectasis, Recurrent respiratory infections	ORPHA:534
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration	ORPHA:158048
Thauvin-Robinet-Faivre Syndrome	Bifid ureter, Renal cyst, Ventricular septal defect, Overgrowth, Transient neutropenia, Renal dys...	OMIM:617107
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Hyponatremia	ORPHA:167
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory tract infection, Atelectasis	ORPHA:365
Alagille Syndrome 1	Hemivertebrae, Hypertriglyceridemia, Butterfly vertebral arch, Hypercholesterolemia	OMIM:118450
Chand Syndrome	Atelectasis	ORPHA:1401
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Renal cell carcinoma, Nephrolithiasis, Hepatic steatosis, Increased urinary cortisol level, Incre...	ORPHA:189427
Perlman Syndrome	Renal hamartoma, Large for gestational age, Pancreatic islet-cell hyperplasia, Nephroblastomatosi...	OMIM:267000
Obsolete: Primary Pigmented Nodular Adrenocortical Disease	Nephrolithiasis, Hepatic steatosis, Increased urinary cortisol level, Increased body weight, Card...	ORPHA:189439
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hemoglobin A1c, Hypertriglyceridemia, Supernumerary ribs	OMIM:619127
Insulinoma	Abnormality of the pancreatic islet cells, Increased body weight	ORPHA:97279
Retinitis Pigmentosa 74	Abnormal renal morphology, Obesity	OMIM:616562
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia	OMIM:619418
Hellp Syndrome	Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased ...	ORPHA:244242
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Insulin-Resistance Syndrome Type B	Proteinuria, Increased body weight, Leukopenia, Glycosuria, Decreased body weight, Enlarged ovari...	ORPHA:2298
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia	OMIM:619573
Chronic Visceral Acid Sphingomyelinase Deficiency	Increased LDL cholesterol concentration, Abnormal circulating lipid concentration, Hypertriglycer...	ORPHA:77293
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Relapsing Polychondritis	Atelectasis	ORPHA:728
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98908
Adrenocortical Carcinoma	Abnormality of urine homeostasis, Increased urinary cortisol level, Weight loss, Increased body w...	ORPHA:1501
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration, Back pain	ORPHA:439232
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight	OMIM:615830
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Magel2-Related Prader-Willi-Like Syndrome	Micropenis, Atrial septal defect, Failure to thrive, Increased body weight, Abdominal obesity	ORPHA:398069
Lipodystrophy, Congenital Generalized, Type 2	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:269700
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr...	OMIM:256040
Wiedemann-Rautenstrauch Syndrome	Cervical vertebral dysplasia, Hypoplastic vertebral bodies, Irregular sclerotic endplates, Hypert...	ORPHA:3455
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Scoliosis, Short neck	OMIM:264090
Carnitine Palmitoyltransferase Ii Deficiency	Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration, Elevated circu...	ORPHA:157
Digeorge Syndrome	Umbilical hernia, Recurrent pneumonia, Atelectasis, Recurrent sinusitis	OMIM:188400
Atypical Werner Syndrome	Hypertriglyceridemia, Intervertebral disc degeneration	ORPHA:79474
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hyperammonemia, Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration...	ORPHA:228308
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:235400
X-Linked Lymphoproliferative Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	ORPHA:2442
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia	OMIM:606721
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia	ORPHA:567983
Cushing Disease	Leukocytosis, Truncal obesity, Decreased eosinophil count, Lymphopenia, Increased urinary cortiso...	ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion	Leukocytosis, Truncal obesity, Neoplasm of the thymus, Lymphopenia, Decreased eosinophil count, P...	ORPHA:99889
Glycogen Storage Disease Ic	Hyperlipidemia, Xanthelasma, Hyperuricemia	OMIM:232240
Alström Syndrome	Lumbar scoliosis, Kyphosis, Hypertriglyceridemia, Hyperlipidemia, Thoracic scoliosis	ORPHA:64
Carney Complex	Hepatocellular carcinoma, Neoplasm of the pancreas, Tall stature, Increased body weight, Cardiac ...	ORPHA:1359
Weaver Syndrome	Tall stature, Hypoplasia of penis	ORPHA:3447
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:391665
Weaver Syndrome	Overgrowth	OMIM:277590

Histopathology

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

There is no histopathology data for Ezh2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ezh2.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Ezh2 harnesses the intranuclear actin cytoskeleton to remodel chromatin in differentiating Th cells.	iScience (September 2021)	Ezh2^{tm1a(EUCOMM)Wtsi}	PMC8479699
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ezh2^{tm1a(EUCOMM)Wtsi}

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