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Gene: Ezh2 MGI:107940

Gene Summary

Name:

enhancer of zeste 2 polycomb repressive complex 2 subunit

Synonyms:

Enx1h, KMT6, Enx-1

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

Download data as: TSV XLS

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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 (378 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Weaver Syndrome		Hypoplasia of penis, Tall stature	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	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Cervical Rib	Cervical ribs	OMIM:117900
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:253240
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:615872
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis	OMIM:300455
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R...	OMIM:616726
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis	OMIM:615294
Bardet-Biedl Syndrome 11	Obesity, Abnormality of the kidney	OMIM:615988
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst	OMIM:615987
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity	OMIM:615995
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Overgrowth, Enlarged kidney, Large for gestational age	OMIM:618272
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Cardiomegaly	ORPHA:88643
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Meconium Aspiration Syndrome	Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Aspiration pneumonia, Int...	ORPHA:70588
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Hepatic Veno-Occlusive Disease	Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight, Ascites	ORPHA:890
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac...	ORPHA:79126
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:601820
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Pulmonary edema	OMIM:267450
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis	ORPHA:922
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:256450
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta...	OMIM:208540
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Obesity, Renal cyst, Renal d...	OMIM:615993
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig...	ORPHA:100024
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Bronchopulmonary Dysplasia	Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration	ORPHA:70589
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Asbestos Intoxication	Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp...	ORPHA:2302
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Bardet-Biedl Syndrome 8	Situs inversus totalis, Renal dysplasia, Hypospadias, Obesity	OMIM:615985
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Meckel Syndrome, Type 8	Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613885
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,...	OMIM:610978
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Obesity, R...	OMIM:615996
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ...	OMIM:618963
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:620321
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, A...	OMIM:620135
Attrv30M Amyloidosis	Cardiomegaly, Weight loss, Cardiomyopathy, Nephropathy, Abnormal renal physiology	ORPHA:85447
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym...	ORPHA:2902
Infant Acute Respiratory Distress Syndrome	Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema	ORPHA:70587
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Death in infancy, Atelectasis	OMIM:300219
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity	OMIM:184700
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia, Scoliosis	OMIM:619013
Summitt Syndrome	Obesity	OMIM:272350
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia	ORPHA:3348
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Leukopenia, Hypertrophic cardiomyopath...	OMIM:617303
Vertebral Hypersegmentation And Orofacial Anomalies	Supernumerary ribs, Six lumbar vertebrae	OMIM:619122
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid...	ORPHA:98855
Obesity And Hypopigmentation	Overgrowth, Hepatic steatosis, Obesity	OMIM:620195
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi...	ORPHA:98863
Nephronophthisis 15	Obesity, Nephronophthisis	OMIM:614845
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae	OMIM:271520
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato...	ORPHA:464329
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Bardet-Biedl Syndrome 4	Obesity, Renal cyst, Abnormality of the kidney	OMIM:615982
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Scoliosis	OMIM:616222
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Macroscopic hematuria, Episodic h...	ORPHA:251004
Tyrosinemia, Type I	Hepatomegaly, Failure to thrive, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Hypertrophi...	OMIM:276700
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid...	ORPHA:98853
Emery-Dreifuss Muscular Dystrophy	Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid...	ORPHA:261
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Scoliosis	OMIM:182290
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal...	OMIM:232220
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Hypertriglyceridemia, Scoliosis	OMIM:615381
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity	OMIM:615981
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo...	OMIM:608978
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ...	OMIM:130650
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:604367
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ...	ORPHA:244
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Wilson Disease	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight ...	ORPHA:905
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Obesity, Abnormal heart morphology	ORPHA:254525
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Ventricular septal defect, Large for gestational age, Postnatal growth...	ORPHA:254534
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Obesity, Cholestas...	OMIM:615630
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Increased hepatic glycogen content, Enlarged tonsils, Large for gestational age	ORPHA:293964
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:819
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis	OMIM:244400
Bardet-Biedl Syndrome 3	Obesity, Renal hypoplasia	OMIM:600151
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Failure to thrive, Enlarged kidney	ORPHA:79128
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hepatocellular ca...	OMIM:232200
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dex...	OMIM:618280
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Lumbar hyperlordosis, Elevated circulating creatine kin...	OMIM:615980
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Obesity, Cholestasis, Tubulointerstitial nephritis, Hepatic fibro...	OMIM:616629
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Bardet-Biedl Syndrome 21	Overweight, Obesity, Horseshoe kidney	OMIM:617406
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal...	ORPHA:505248
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Overgrowth, Enlarged kidney	ORPHA:276280
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morpholo...	OMIM:620233
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Postaxial Acrofacial Dysostosis	Supernumerary vertebrae	OMIM:263750
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Large for gestational age, Vesicoureteral reflux, Hepatoblast...	ORPHA:116
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Small for ges...	OMIM:224120
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Waardenburg Syndrome, Type 1	Supernumerary ribs, Supernumerary vertebrae	OMIM:193500
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased body weight, Anemia	OMIM:614450
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
3Q29 Microdeletion Syndrome	Six lumbar vertebrae	ORPHA:65286
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Overgrowth, Lym...	OMIM:605309
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Kyphosis, Hyperuricemia, Scoliosis	OMIM:203800
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death in childhood, Umb...	OMIM:613177
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Increased body weight	ORPHA:94086
H Syndrome	Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Micropenis, En...	ORPHA:168569
Farber Disease	Diffuse reticular or finely nodular infiltrations, Atelectasis, Recurrent upper respiratory tract...	ORPHA:333
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Werner Syndrome	Low back pain, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperl...	OMIM:613327
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Proteinuria, Large for gestational age, Nephrocalcinosis, Aminoa...	OMIM:616026
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Recurrent respiratory infections	ORPHA:2314
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Failure to thrive, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarg...	ORPHA:79259
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma	OMIM:194072
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Severe postnatal growth retardation, Mucopolysaccharidu...	OMIM:252500
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Bardet-Biedl Syndrome 6	Hypospadias, Obesity, Renal cyst	OMIM:605231
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Vesicour...	ORPHA:261222
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ...	ORPHA:555874
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Short-Rib Thoracic Dysplasia 12	Atelectasis, Anencephaly, Pulmonary hypoplasia, Neonatal death, Intrauterine growth retardation	OMIM:269860
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard...	ORPHA:79328
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Increased body weight	ORPHA:276608
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Proteinuria, Large for gestational age, Increased body weight, Renal Fanconi syndro...	ORPHA:263455
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Enlarged kidney, Splenic cyst	OMIM:618188
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Pneumothorax, Pulmonary infiltrates, Chylothorax, ...	ORPHA:538
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Postnatal growth retardation, Splenomegaly, Hepatocellular adenoma, Increased body ...	ORPHA:79240
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirrhosis, Obesity, Neo...	ORPHA:69663
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Hepato...	ORPHA:552
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi...	ORPHA:264580
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Long penis, Hypercalciuria, Nephroc...	ORPHA:508
Microtriplication 11Q24.1	Hyperlipidemia, Scoliosis, Short neck	ORPHA:289522
Bardet-Biedl Syndrome 17	Dextrocardia, Polyuria, Situs inversus totalis, Obesity, Renal cyst, Stage 5 chronic kidney disea...	OMIM:615994
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Whim Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections...	ORPHA:51636
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Bardet-Biedl Syndrome 12	Hydroureter, Abdominal mass, Obesity, Cystic renal dysplasia, Hydronephrosis	OMIM:615989
Pseudohypoparathyroidism, Type Ib	Obesity, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Abdominal obesity, Increased body weight	OMIM:615954
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Ogden Syndrome	Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def...	OMIM:300855
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutrop...	OMIM:614520
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br...	OMIM:615067
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Obesity, Mitral valve prolapse, Abnormal heart morphology, Tr...	OMIM:615873
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Micropenis, Increased body weight, Horseshoe kidney	OMIM:300860
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Kyphoscoliosis, Kyphosis	ORPHA:536532
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood	OMIM:618278
Familial Chylomicronemia Syndrome	Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration	ORPHA:444490
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Hypospadias, Cardiomyopathy, Over...	OMIM:312870
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces	ORPHA:536467
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Zygomycosis	Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumonia, Air crescent sign, ...	ORPHA:73263
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Pleural effusion, Recurrent pneumonia, Air bronchogram	OMIM:306400
Lujo Hemorrhagic Fever	Atelectasis	ORPHA:319213
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98907
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Recurrent lower respiratory tract infections	ORPHA:258
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Scoliosis	ORPHA:369837
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight	OMIM:274300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:280365
Joubert Syndrome 39	Overweight, Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Sotos Syndrome	Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Increas...	OMIM:117550
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia	ORPHA:275761
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
22Q11.2 Deletion Syndrome	Spina bifida, Atelectasis, Meningocele, Abnormal lung lobation, Occipital myelomeningocele, Umbil...	ORPHA:567
Oculocerebrorenal Syndrome Of Lowe	Umbilical hernia, Atelectasis, Recurrent respiratory infections, Death in infancy	ORPHA:534
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Transient neutropenia, Ventricular septal defect, Large for gestational age, R...	OMIM:617107
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi...	ORPHA:3427
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory tract infection, Atelectasis	ORPHA:365
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia, Hemivertebrae, Butterfly vertebral arch	OMIM:118450
Chand Syndrome	Atelectasis	ORPHA:1401
Perlman Syndrome	Nephrogenic rest, Renal hamartoma, Large for gestational age, Nephroblastomatosis, Pancreatic isl...	OMIM:267000
Insulinoma	Abnormality of the pancreatic islet cells, Increased body weight	ORPHA:97279
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hemoglobin A1c, Hypertriglyceridemia, Supernumerary ribs	OMIM:619127
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Increased body weight, Nephrolithiasis, Abdominal obesity, Rena...	ORPHA:189427
Retinitis Pigmentosa 74	Abnormal renal morphology, Obesity	OMIM:616562
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod...	ORPHA:244242
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia	OMIM:619418
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Abnormality of body weight, Enlarged polycystic ovaries, Biliary c...	ORPHA:2298
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol...	ORPHA:77293
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Relapsing Polychondritis	Atelectasis	ORPHA:728
Adrenocortical Carcinoma	Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body weight, Weight...	ORPHA:1501
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98908
Aapoaiv Amyloidosis	Back pain, Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight	OMIM:615830
Magel2-Related Prader-Willi-Like Syndrome	Increased body weight, Abdominal obesity, Atrial septal defect, Micropenis, Failure to thrive	ORPHA:398069
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Irregular sclerotic endplates, Kyphoscoliosis, Hypoplastic vertebral bodies...	ORPHA:3455
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Scoliosis, Short neck	OMIM:264090
Atypical Werner Syndrome	Hypertriglyceridemia, Intervertebral disc degeneration	ORPHA:79474
Digeorge Syndrome	Umbilical hernia, Atelectasis, Recurrent pneumonia, Recurrent sinusitis	OMIM:188400
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia	OMIM:606721
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Cushing Disease	Increased urinary cortisol level, Leukocytosis, Increased body weight, Truncal obesity, Abdominal...	ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the t...	ORPHA:99889
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Alström Syndrome	Thoracic scoliosis, Hypertriglyceridemia, Kyphosis, Hyperlipidemia, Lumbar scoliosis	ORPHA:64
Carney Complex	Neoplasm of the pancreas, Cardiac myxoma, Increased body weight, Abdominal obesity, Hepatocellula...	ORPHA:1359
Weaver Syndrome	Hypoplasia of penis, Tall stature	ORPHA:3447
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	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}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ezh2^{tm1a(EUCOMM)Wtsi}	PMC6459510
Contrasting requirements during disease evolution identify EZH2 as a therapeutic target in AML.	The Journal of experimental medicine (March 2019)	Ezh2^{tm1a(EUCOMM)Wtsi}	PMC6446874
Ezh2 Acts as a Tumor Suppressor in Kras-driven Lung Adenocarcinoma.	International journal of biological sciences (May 2017)	Ezh2^{tm1a(EUCOMM)Wtsi}	PMC5441181

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ezh2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ezh2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ezh2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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