Gene Summary

Name:
enhancer of zeste 2 polycomb repressive complex 2 subunit
Synonyms:
Enx1h,  Enx-1,  KMT6

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating triglyceride level Ezh2tm1a(EUCOMM)Wtsi HET Early adult 8.75×10-08
increased lumbar vertebrae number Ezh2tm1a(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

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.

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 Similarity of
phenotypes
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) Ezh2tm1a(EUCOMM)Wtsi PMC8479699
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ezh2tm1a(EUCOMM)Wtsi