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
Scoliosis, Kyphosis 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
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Cervical Rib
Cervical ribs OMIM:117900
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Mucus Inspissation Of Respiratory Tract
Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction, Bronchiectasis OMIM:253240
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Scoliosis, Hypertriglyceridemia, Increased LD... OMIM:616516
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Ethanolaminosis
Cardiomegaly OMIM:227150
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide OMIM:615872
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Nephronophthisis 16
Enlarged kidney, Cholestasis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Polycystic kidney d... OMIM:615382
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Pulmonary Blastoma
Pulmonary infiltrates, Recurrent pneumonia, Cough, Dyspnea ORPHA:64741
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... OMIM:613496
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Atelectasis OMIM:616726
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis OMIM:300455
Meconium Aspiration Syndrome
Hypoxemia, Intrauterine growth retardation, Atelectasis, Pulmonary arterial hypertension, Neonata... ORPHA:70588
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Cough, Rhinorr... OMIM:615067
Familial Nasal Acilia
Chronic rhinitis, Dyspnea, Atelectasis, Bronchiectasis, Respiratory distress, Chronic sinusitis ORPHA:922
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Bardet-Biedl Syndrome 11
Obesity, Abnormality of the kidney OMIM:615988
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Bardet-Biedl Syndrome 10
Obesity, Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hypertrophic cardiomyopathy, Hepatomegaly, ... OMIM:615415
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Asbestos Intoxication
Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxemia, Late ... ORPHA:2302
Immunodeficiency 48
Failure to thrive, Splenomegaly, Hepatomegaly OMIM:269840
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Bardet-Biedl Syndrome 12
Obesity, Abnormality of the kidney OMIM:615989
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Increased hepatic glycogen content, Enlarged tonsils, Truncal obesity ORPHA:293964
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Tracheomalacia, Tachypnea, Dyspnea, Atelectasis, Upper ... ORPHA:60032
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Abdominal obesity, Truncal obesity OMIM:618160
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Acute Interstitial Pneumonia
Pulmonary infiltrates, Reticulonodular pattern on pulmonary HRCT, Nonproductive cough, Ground-gla... ORPHA:79126
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis OMIM:268500
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenome... OMIM:263200
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Parenchymal consolidation, Restrictive ventilatory defect, Hypoxemia, Asthma... ORPHA:2902
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Cholestasis, Acute kidney injury, Proteinuria, Abnormality o... ORPHA:85445
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, Hypospadias OMIM:605231
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency OMIM:615995
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Obesity, Renal dysplasia, Renal insufficiency OMIM:615993
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Renal Dysplasia
Pelvic mass, Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic... ORPHA:93108
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia,... OMIM:615285
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Parenchymal consolidation, Restrictive ventilatory defect, Hypoxemia, Grou... OMIM:610978
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Failure to thrive, Galactosuria OMIM:230350
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Ascites, Renal insufficiency, Increased body weight ORPHA:890
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:601820
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Productive cough, Exertional dyspnea, Upper airway o... ORPHA:3348
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Biliary cirrhosis, Ureteral atresia, Cholestasis, Atrial septal defect, Bile duc... OMIM:208540
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Ground-glass opacification, Pneumonia, Hypoxemia, Airway obstruction, Reduce... ORPHA:1303
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Bence Jones Proteinuria, Anemia, Abnormal B cell count, Lymphadenopat... ORPHA:100024
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Restrictive ventilatory defect, Abnormal pattern of respiration, Cough, Re... ORPHA:724
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Weight loss ORPHA:66661
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Temple Syndrome
Scoliosis, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Carcinoma Of Esophagus
Lymphadenopathy, Obesity, Weight loss ORPHA:70482
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Macrosomia Adiposa Congenita
Large for gestational age, Eosinophilia, Obesity OMIM:248100
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy ORPHA:99976
Interstitial Lung Disease 1
Ground-glass opacification, Restrictive ventilatory defect, Nonspecific interstitial pneumonia, C... OMIM:619611
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Pancreatic cysts, Decrea... ORPHA:730
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Atelectasis, Nasal flaring ORPHA:70587
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia, Failure to ... OMIM:618963
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition of the great arteri... OMIM:314390
Nephronophthisis 19
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:616217
Bardet-Biedl Syndrome 8
Renal dysplasia, Obesity, Hypospadias, Situs inversus totalis OMIM:615985
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Proteinuria, Cholestasis, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Exertional dyspnea, Interlobular septal thickening, Respirat... OMIM:614370
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Ascites, Hypertr... OMIM:276700
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Death in infancy, Neonatal death, Respiratory distress OMIM:300219
Attrv30M Amyloidosis
Abnormal renal physiology, Cardiomyopathy, Nephropathy, Cardiomegaly, Weight loss ORPHA:85447
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Halothane Hepatitis
Eosinophilia, Viral hepatitis, Obesity, Jaundice, Hepatitis OMIM:234350
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Bardet-Biedl Syndrome 19
Obesity, Renal insufficiency OMIM:615996
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Nephrotic syndrome, Leukopenia, Bone marrow hypocellularity, Proteinuria, Atrial... OMIM:617303
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
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
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Rajab Interstitial Lung Disease With Brain Calcifications 2
Scoliosis, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Macrocephaly/Autism Syndrome
Lymphopenia, Obesity, Splenomegaly, Hepatomegaly OMIM:605309
Summitt Syndrome
Obesity OMIM:272350
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Back pain, Elevated circulating creatine kinase concentration, Scoliosis... ORPHA:98855
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Obesity, Macroscopic hematuria, Membranoproliferative glomeruloneph... ORPHA:251004
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Short neck, Supernumerary vertebrae, Scoliosis, Vertebral fusion, Hemivertebrae OMIM:271520
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Short neck, Hyperlordosis, Back pain, Elevated circulating creatine kinase concentratio... ORPHA:98863
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Mild postnatal growth retardation, Splenomegaly, Anisocytosis, Prolonged neonatal... OMIM:224120
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Reduced forced expiratory volume in o... OMIM:300770
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Bardet-Biedl Syndrome 4
Obesity, Renal cyst, Abnormality of the kidney OMIM:615982
Bronchogenic Cyst
Pneumonia, Cough, Dyspnea, Atelectasis, Abnormal pulmonary thoracic imaging finding ORPHA:2357
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Exertional dyspnea ORPHA:254361
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Large for gestational age, Pancreatic islet-cell hyperplasia, Visceromegaly OMIM:601165
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Back pain, Elevated circulating creatine kinase concentration, Scoliosis... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Back pain, Elevated circulating creatine kinase concentration, Scoliosis... ORPHA:98853
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis, Hypertriglyceridemia OMIM:615381
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Smith-Magenis Syndrome
Scoliosis, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Surfactant Metabolism Dysfunction, Pulmonary, 3
Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Reticular pattern on pulmona... OMIM:610921
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:79085
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:610293
Nephronophthisis 15
Nephronophthisis, Obesity OMIM:614845
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia, Hyperargininemia OMIM:603471
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Ureteral duplication, Hydronephrosis, Lipid accumulation... OMIM:608836
Chronic Pneumonitis Of Infancy
Ground-glass opacification, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hypervent... ORPHA:91359
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Chr... OMIM:244400
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Hepatoblastoma, Pancrea... OMIM:130650
Meacham Syndrome
Enlarged kidney, Tetralogy of Fallot, Horseshoe kidney, Accessory spleen, Atrial septal defect, S... OMIM:608978
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Decreased LDL cholesterol ... OMIM:615947
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Interstitial pneumonitis, Tachypnea, Pulmonary arterial hypertension, Spon... ORPHA:217563
Waardenburg Syndrome Type 3
Atelectasis, Tracheomalacia ORPHA:896
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Respiratory failure, Tachypnea, Neonatal death, Dyspnea, Pulmonary ar... OMIM:265120
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Respiratory failure, Bronchiectasis, Atelectasis, Productiv... ORPHA:244
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Failure to thrive, He... ORPHA:905
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Obesity, Bicuspid aortic valve OMIM:615981
Central Precocious Puberty
Obesity, Increased body weight, Overgrowth ORPHA:759
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary tract in... ORPHA:731
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Ascites, Polysplenia, Hepatic fibrosis, Pa... OMIM:200995
Igg4-Related Kidney Disease
Proteinuria, Hydronephrosis, Membranous nephropathy, Renal interstitial immunoglobulin deposits, ... ORPHA:449395
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Nephronophthi... OMIM:616629
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Lipodystrophy, Familial Partial, Type 3
Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604367
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased total bili... OMIM:267700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Abnormal heart morphology, Obesity ORPHA:254525
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:435651
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ... ORPHA:158057
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Small for gestational age, Abnormal heart morphology, Ventricular sept... ORPHA:254534
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232200
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... ORPHA:247585
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Failure to thrive, Mediastinal lymphadenopathy, Weight loss ORPHA:79128
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Abnormal liver lobulation, Nephroblast... OMIM:608022
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Overgrowth ORPHA:276280
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Obesity, Chronic kidney disease, Splenomegaly, Hepatomegaly, Ventricular septal defe... OMIM:615630
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertriglyceridemia ORPHA:435660
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Patent foramen ovale, Proteinuria, Atria... ORPHA:505248
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Lumbar hyperlordosis, Hyperlipidemia, Abnorma... OMIM:615980
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Enlarged kidney, Bifid ureter, Renal malrotation, Proportionate tall s... ORPHA:500095
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Ascites, Bacterial endocarditis, Jaundice, Pulmonic valve myxoma, Ca... ORPHA:615
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Bardet-Biedl Syndrome 3
Renal hypoplasia, Obesity OMIM:600151
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatoblastoma, Cardiomegaly, Hypercalciuria, Obesity, Nephrob... ORPHA:116
Bardet-Biedl Syndrome 21
Obesity, Horseshoe kidney, Overweight OMIM:617406
Smith-Magenis Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae OMIM:263750
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, Atrial septal defect, Abnormal mi... ORPHA:860
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Increased body weight, Increased body mass index OMIM:614450
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Lipodystrophy, Congenital Generalized, Type 4
Hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Hypertriglyceridemi... OMIM:613327
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Micropenis, Abnormality of... ORPHA:168569
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Hematuria, Splenomegaly, Hepa... OMIM:603903
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
3Q29 Microdeletion Syndrome
Six lumbar vertebrae ORPHA:65286
Alstrom Syndrome
Kyphosis, Hyperuricemia, Scoliosis, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:203800
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Blue Diaper Syndrome
Nephrocalcinosis, Increased body weight, Blue urine ORPHA:94086
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Micropenis, Hyperechogenic kidneys, Microphallus, Hypospadias OMIM:612651
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Farber Disease
Atelectasis, Respiratory distress, Diffuse reticular or finely nodular infiltrations, Respiratory... ORPHA:333
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Hepatic steatosis, Nephrolithiasis, Proteinuria, Chronic neutr... ORPHA:79259
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Smal... ORPHA:555874
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Large for gestational age, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hepatome... OMIM:616026
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Alg9-Cdg
Enlarged kidney, Ureteral hypoplasia, Right ventricular dilatation, Periportal fibrosis, Atrial s... ORPHA:79328
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Obesity, Nephroblastoma, Nephropathy, Renal insufficiency, Hypospadias OMIM:194072
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Renal Fanconi syndrome, Proteinuria, Pancreatic islet-cell... ORPHA:263455
Noonan Syndrome 8
Large for gestational age, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, ... OMIM:615355
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Increased body weight ORPHA:276608
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Obesity, Vesicour... ORPHA:261222
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Lymphangioleiomyomatosis
Emphysema, Pulmonary infiltrates, Chylothorax, Restrictive ventilatory defect, Cough, Dyspnea, At... ORPHA:538
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Cough ORPHA:2314
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... OMIM:603553
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Cardiomyopathy, Familial Hypertrophic, 4
Ascites, Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal h... OMIM:115197
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Decreased body weight, Hypercalciuria, Hypertrophic cardiomyop... ORPHA:508
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Cirrhosis, Splenomegaly, Hepatomegaly, Myoglobinuria, Anemia, Postnatal g... ORPHA:79240
Microtriplication 11Q24.1
Scoliosis, Short neck, Hyperlipidemia ORPHA:289522
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Obesity, Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic ... OMIM:615994
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatic steatosis, Cholestasis, Splenomegaly, Hepatomegaly, Myoglobinuria... ORPHA:264580
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Mody
Glycosuria, Large for gestational age, Renal cyst, Exocrine pancreatic insufficiency, Pancreatic ... ORPHA:552
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Tularemia
Pulmonary infiltrates, Pneumonia, Pleural effusion, Cough, Respiratory distress, Abnormal pulmona... ORPHA:3392
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Anencephaly, Atelectasis, Neonatal death, Respiratory insufficiency OMIM:269860
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Respiratory failure, Respiratory insufficiency, Atelectasis, Pulmonary arterial hyper... ORPHA:258
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Increased body weight, Abdominal obesity OMIM:615954
Pseudohypoparathyroidism, Type Ib
Obesity, Low urinary cyclic AMP response to PTH administration OMIM:603233
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomega... OMIM:231005
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Death in childhood, Atelectasis, Respiratory insufficiency OMIM:618278
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Zygomycosis
Pulmonary infiltrates, Epistaxis, Parenchymal consolidation, Sinusitis, Cough, Rhinorrhea, Pleura... ORPHA:73263
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:370
Lujo Hemorrhagic Fever
Nonproductive cough, Crackles, Atelectasis, Rhinitis, Respiratory distress ORPHA:319213
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Kyphosis, Sacral dimple, Hypertriglyceridemia, Kyphoscoliosis ORPHA:536532
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hyperlipidemia, Hypertriglyceridemia ORPHA:444490
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Cough, Atelectasis OMIM:306400
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Bone marrow hypocellularity, Ketonuria, Aminoaciduria, Failure to thri... OMIM:614520
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Horseshoe kidney, Increased body weight OMIM:300860
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatoblastoma, Total anomalous pulmonary venous return, Hydronephrosis, Pancreatic islet-cell hy... OMIM:312870
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Sotos Syndrome
Atrial septal defect, Abnormality of the kidney, Prolonged neonatal jaundice, Nephroblastoma, Ven... OMIM:117550
Whim Syndrome
Sinusitis, Recurrent pneumonia, Pneumonia, Bronchiectasis, Atelectasis ORPHA:51636
Thauvin-Robinet-Faivre Syndrome
Large for gestational age, Renal cyst, Bifid ureter, Renal malrotation, Renal dysplasia, Nephrobl... OMIM:617107
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Abdominal obesity, Truncal obesity OMIM:615812
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Tracheomalacia, Atelectasis, Repeated pneumothoraces, Respiratory... ORPHA:536467
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Scoliosis, Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory failure, Atelectasis, Exertional dyspnea, Respiratory insufficiency due ... ORPHA:365
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperprolinemia, Elevated pla... ORPHA:470
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:280365
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly OMIM:612291
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Hypertriglyceridemia, Hyp... ORPHA:90041
Joubert Syndrome 39
Hypoplastic left heart, Overweight, Polycystic kidney dysplasia OMIM:619562
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Hypertriglyceridemia, Steatorrhea ORPHA:275761
Aorta Coarctation
Cardiomegaly, Tetralogy of Fallot, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Perlman Syndrome
Large for gestational age, Nephrogenic rest, Renal hamartoma, Pancreatic islet-cell hyperplasia, ... OMIM:267000
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia ORPHA:167
22Q11.2 Deletion Syndrome
Occipital myelomeningocele, Intrauterine growth retardation, Asthma, Atelectasis, Spina bifida, C... ORPHA:567
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Relapsing Polychondritis
Atelectasis, Dyspnea, Abnormal pattern of respiration, Cough ORPHA:728
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Oculocerebrorenal Syndrome Of Lowe
Atelectasis, Respiratory insufficiency, Umbilical hernia, Death in infancy ORPHA:534
Alagille Syndrome 1
Hemivertebrae, Butterfly vertebral arch, Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Nephrolithiasis, Increased urinary cortisol level, Abdominal obesity, Renal ce... ORPHA:189427
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Cardiac myxoma, Nephrolithiasis, Increased urinary cortisol level, Abdominal o... ORPHA:189439
Chand Syndrome
Atelectasis ORPHA:1401
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Supernumerary ribs, Hypertriglyceridemia OMIM:619127
Insulinoma
Abnormality of the pancreatic islet cells, Increased body weight ORPHA:97279
Narcolepsy 7
Obesity OMIM:614250
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Decreased body weight, Weight loss, Leukopenia, Proteinuria, Abnor... ORPHA:2298
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Chronic Visceral Acid Sphingomyelinase Deficiency
Hyperlipidemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Increased LDL cho... ORPHA:77293
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Acute kidney injury, Proteinuria, Hemoglobin... ORPHA:244242
Adrenocortical Carcinoma
Increased urinary cortisol level, Weight loss, Increased body weight, Abnormality of urine homeos... ORPHA:1501
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Hypertriglyceridemia OMIM:619573
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Wiedemann-Rautenstrauch Syndrome
Scoliosis, Hypertriglyceridemia OMIM:264090
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
Magel2-Related Prader-Willi-Like Syndrome
Micropenis, Atrial septal defect, Failure to thrive, Abdominal obesity, Increased body weight ORPHA:398069
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Hypertriglyceridemia, Decreased HDL choles... OMIM:256040
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Back pain ORPHA:439232
Digeorge Syndrome
Recurrent pneumonia, Asthma, Atelectasis, Recurrent sinusitis, Chronic pulmonary obstruction, Umb... OMIM:188400
Wiedemann-Rautenstrauch Syndrome
Cervical vertebral dysplasia, Hypoplastic vertebral bodies, Atlantoaxial abnormality, Hypertrigly... ORPHA:3455
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcarnitine concentratio... ORPHA:157
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia OMIM:269700
Atypical Werner Syndrome
Hypertriglyceridemia, Intervertebral disc degeneration ORPHA:79474
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating acylcarnitine concentratio... ORPHA:228308
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:2442
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Cystic Echinococcosis
Asthma, Abnormal pulmonary thoracic imaging finding ORPHA:400
Absence Of The Pulmonary Artery
Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapnia, Dyspnea, Pulmonary arterial... ORPHA:980
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Conjugated hyperbilirubinemia ORPHA:567983
Cushing Disease
Leukocytosis, Decreased eosinophil count, Increased urinary cortisol level, Truncal obesity, Abdo... ORPHA:96253
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Decreased eosinophil count, Increased urinary cortisol level, Truncal obesity, Neop... ORPHA:99889
Primary Sjögren Syndrome
Nonproductive cough, Abnormal pulmonary thoracic imaging finding, Lymphocytic interstitial pneumo... ORPHA:289390
Alström Syndrome
Thoracic scoliosis, Kyphosis, Hyperlipidemia, Hypertriglyceridemia, Lumbar scoliosis ORPHA:64
Carney Complex
Cardiac myxoma, Abdominal obesity, Hepatocellular carcinoma, Tall stature, Increased body weight,... ORPHA:1359
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Weaver Syndrome
Tall stature, Hypoplasia of penis ORPHA:3447
Weaver Syndrome
Scoliosis, Kyphosis 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