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Gene: Ezh2 MGI:107940

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lumbar vertebrae number Ezh2tm1a(EUCOMM)Wtsi HET Early adult 4.90×10-06
increased circulating triglyceride level Ezh2tm1a(EUCOMM)Wtsi HET Early adult 8.75×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
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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
Ezh2tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Ezh2tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Ezh2tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Ezh2tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Ezh2tm1a(EUCOMM)Wtsi
forearm, WT, Male, WTSI

View all 409 images

Human diseases caused by Ezh2 mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Weaver Syndrome
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Tall stature, Joint stiffnes... ORPHA:3447
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... 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
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Joint stiffness, Obesity, Abnormal thumb morphology, Abnormal metacarpal mo... ORPHA:1078
Cervical Rib
Cervical ribs OMIM:117900
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... OMIM:617610
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:615285
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Ethanolaminosis
Cardiomegaly OMIM:227150
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegal... OMIM:619902
Bardet-Biedl Syndrome 11
Obesity, Polydactyly OMIM:615988
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Bardet-Biedl Syndrome 14
Obesity, Polydactyly OMIM:615991
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... OMIM:615382
Bardet-Biedl Syndrome 13
Obesity, Polydactyly OMIM:615990
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Finger joint hypermobility, Obesity, Genu valgum ORPHA:436141
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... ORPHA:174
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Scoliosis, Hypertriglyceridemia, Elevated circulating cr... OMIM:616516
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Pseudopseudohypoparathyroidism
Short 5th finger, Ectopic ossification, Short distal phalanx of the thumb, Short 5th metacarpal, ... ORPHA:79445
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Obesity, Osteoarthritis ORPHA:2206
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Short foot, Tapered finger OMIM:309585
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 18
Obesity, Brachydactyly OMIM:615995
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... OMIM:604387
Bardet-Biedl Syndrome 5
Obesity, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Tall stature OMIM:618406
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Obesity, Short foot OMIM:300577
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Enlarged tonsils, Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Renal insufficiency OMIM:615987
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Trun... OMIM:620639
Acromegaloid Facial Appearance Syndrome
Short 5th metacarpal, Large for gestational age, Joint hypermobility, Large hands, Tapered finger OMIM:102150
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Obesity ORPHA:99976
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Overgrowth, Large for gestational age, Enlarged kidney, Nephroblastoma OMIM:618272
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... ORPHA:85445
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Tall stature, Obesity, Genu valgum, Short 4th metacar... ORPHA:3210
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Meconium Aspiration Syndrome
Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Intrauterine growth retardati... ORPHA:70588
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Simpson-Golabi-Behmel Syndrome, Type 2
Postaxial hand polydactyly, Obesity, Broad thumb, Short finger OMIM:300209
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Obesity, Syndactyly, Tapered finger OMIM:618725
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Microduplication Xp11.22P11.23 Syndrome
Obesity, Toe syndactyly ORPHA:217377
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... OMIM:615415
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Hepatic Veno-Occlusive Disease
Ascites, Renal insufficiency, Increased body weight, Hepatomegaly, Jaundice ORPHA:890
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Bardet-Biedl Syndrome 7
Clinodactyly, Obesity, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Syndromic X-Linked Intellectual Disability 7
Obesity, Tapered finger ORPHA:85274
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Bardet-Biedl Syndrome 22
Obesity, Postaxial foot polydactyly, Large for gestational age, Polydactyly OMIM:617119
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Ground-glass opacification, Cystic pattern on pulmonary HRCT, Parenchymal consolidat... OMIM:610978
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Weight loss, L... ORPHA:100024
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Bardet-Biedl Syndrome 16
Renal agenesis, Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal d... OMIM:615993
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin... ORPHA:2902
Bardet-Biedl Syndrome 8
Hypospadias, Obesity, Situs inversus totalis, Renal dysplasia OMIM:615985
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Shox-Related Short Stature
Obesity, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, Short... ORPHA:314795
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... OMIM:619611
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Bardet-Biedl Syndrome 4
Obesity, Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... OMIM:618620
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Obesity, Partial atrioventricular canal defect, Renal i... OMIM:615996
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Obesity, Genu valgum, ... ORPHA:65759
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Nephronophthisis 15
Obesity, Polydactyly OMIM:614845
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Weight loss, Abnormal renal physiology ORPHA:85447
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Death in infancy, Neonatal death OMIM:300219
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Obesity, Genu valgum, Joint hyper... OMIM:250420
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... OMIM:251450
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Scoliosis, Hypertriglyceridemia OMIM:619013
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Abnormal metacarpal morphology, Abnormal morphology of ulna ORPHA:2233
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Joint hypermobility OMIM:620065
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Pseudopseudohypoparathyroidism
Obesity, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal OMIM:612463
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Prader-Willi Syndrome Due To Imprinting Mutation
Small hand, Short foot, Abnormal ulnar metaphysis morphology, Obesity ORPHA:177910
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Obesity, Brachydactyly OMIM:603233
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Small hand, Clinodactyly, Obesity, Acromicria, Short foot ORPHA:254525
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Obesity And Hypopigmentation
Overgrowth, Obesity, Hepatic steatosis OMIM:620195
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Small epiphyses, Genu valgum, Obesity, Hip contracture, Joint hypermobility, Short long bone, Fla... OMIM:618363
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Hypertrophic cardiomy... OMIM:617303
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:271520
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentra... ORPHA:98855
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... ORPHA:464329
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of the toes, ... ORPHA:397973
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia OMIM:603471
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentra... ORPHA:98863
Trisomy 5P
Obesity, Abnormal metacarpal morphology ORPHA:1742
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short femoral neck, Obesity, Joint hypermobility, Carpal bone hypoplasia, Hypoplasia of the ulna,... OMIM:618395
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Biemond Syndrome Type 2
Obesity, Preaxial polydactyly ORPHA:141333
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Short thumb, Prominent fingertip pads, Obesity, Limited shoulder mo... OMIM:618821
Temple Syndrome
Scoliosis, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Bardet-Biedl Syndrome 2
Obesity, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:615981
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Hallux valgus, Obesity, Cone-shaped epiphysis OMIM:606772
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macros... ORPHA:251004
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, Hypertrophic cardiom... OMIM:276700
Beta-Mercaptolactate Cysteine Disulfiduria
Micromelia, Sandal gap, Obesity, Genu valgum, Joint hypermobility, Arachnodactyly ORPHA:1035
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentra... ORPHA:261
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Obesity, Brachydactyly OMIM:600151
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentra... ORPHA:98853
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Obesity, Polydactyly, Postaxial polydactyly, Brachydactyly, Truncal o... OMIM:615986
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... OMIM:314390
Clark-Baraitser syndrome
Tall stature, Obesity, Genu valgum, Joint hypermobility, Short palm, Tapered finger OMIM:300602
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Obesity, Brachydactyly, Short long bone OMIM:615633
Tangier Disease
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Smith-Magenis Syndrome
Scoliosis, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascular interstit... ORPHA:244
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis, Hypertriglyceridemia OMIM:615381
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity, Genu valgum, Large hands, Tapered finger ORPHA:85325
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Generalized joint hypermobility, 2-3 toe syndactyly, Increased body weight, Clinodactyly of the 5... ORPHA:589905
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Renal dysplasia, Renal insufficiency, Lipid accumulation in hepatocytes, ... OMIM:608836
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Clinodactyly, Obesity, Joint hypermobility, Short foot ORPHA:254531
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Obesity, Brachydactyly, Short metatarsal, Advanced ossification of carpal ... OMIM:614613
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli... OMIM:615947
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Horseshoe kidney, Scimitar anomaly... OMIM:608978
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Joubert Syndrome 32
Tall stature, Large for gestational age, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:617757
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia OMIM:604367
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Achondroplasia
Rhizomelia, Hip joint hypermobility, Obesity, Trident hand, Limited elbow extension, Knee joint h... ORPHA:15
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Wilson Disease
Failure to thrive, Hepatitis, Acute hepatitis, Splenomegaly, Hepatic steatosis, Increased body we... ORPHA:905
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Postnatal growth retardation, Large for gestational age, Ventricular s... ORPHA:254534
Laurence-Moon Syndrome
Obesity, Polydactyly OMIM:245800
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Congenital hip dislocation, Increased body mass index OMIM:614450
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Weig... ORPHA:449395
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Obesity ORPHA:2183
Lipodystrophy, Familial Partial, Type 6
Lumbar hyperlordosis, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulat... OMIM:615980
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti... OMIM:200995
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Osteoporosis, Abdominal obesity OMIM:615954
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss, Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Splenomegaly, V... OMIM:615630
Bardet-Biedl Syndrome 21
Obesity, Overweight, Postaxial hand polydactyly OMIM:617406
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Epiphyseal stippling, Small for gestational age OMIM:274300
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ... OMIM:618280
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Smith-Magenis Syndrome
Scoliosis, Hypercholesterolemia, Abnormal form of the vertebral bodies, Hypertriglyceridemia ORPHA:819
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Obesity, Syndactyly OMIM:605231
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Stage 5 chronic kidney disease, Tubuloi... OMIM:616629
Ataxia-Oculomotor Apraxia Type 4
Obesity, Abnormal toe morphology ORPHA:459033
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatospleno... ORPHA:505248
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Hemihyperplasia-Multiple Lipomatosis Syndrome
Overgrowth, Enlarged kidney, Nephroblastoma, Abnormality of the lymphatic system ORPHA:276280
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae OMIM:263750
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Large for gestat... ORPHA:500095
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Broad hallux, Large for gestational age, Broad first me... OMIM:239850
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Long hallux, Obesity, Tapered finger OMIM:619854
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Sp... OMIM:224120
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Umbilical hernia, Emphyse... OMIM:613177
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal... ORPHA:860
Waardenburg Syndrome, Type 1
Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Obesity OMIM:610628
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Beckwith-Wiedemann Syndrome
Nephropathy, Tall stature, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal pa... ORPHA:116
Macrocephaly/Autism Syndrome
Lymphopenia, Obesity, Large for gestational age, Penile freckling, Splenomegaly, Overgrowth, Hepa... OMIM:605309
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small hand, Clinodactyly, Obesity, Joint hypermobility, Truncal obesity, Short foot, Small for ge... ORPHA:96184
Farber Disease
Diffuse reticular or finely nodular infiltrations, Recurrent upper respiratory tract infections, ... ORPHA:333
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pe... OMIM:261740
3Q29 Microdeletion Syndrome
Six lumbar vertebrae ORPHA:65286
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Retinitis Pigmentosa 51
Obesity, Polydactyly OMIM:613464
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Blue Diaper Syndrome
Increased body weight, Nephrocalcinosis, Blue urine ORPHA:94086
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Pseudohypoparathyroidism, Type Ia
Short toe, Short finger, Obesity, Subcutaneous ossification, Brachydactyly, Osteoporosis, Short m... OMIM:103580
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Abnormality of the kidney, Micropenis, Hi... ORPHA:168569
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hyperlordosis, Hypertriglyceridemia, Scoliosi... OMIM:613327
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Mody
Nephropathy, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Obesity, Large... ORPHA:552
Werner Syndrome
Low back pain, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Mucolipidosis Ii Alpha/Beta
Failure to thrive, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Severe postnatal grow... OMIM:252500
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosphaturia, Protei... OMIM:616026
Short-Rib Thoracic Dysplasia 12
Atelectasis, Intrauterine growth retardation, Neonatal death, Anencephaly, Pulmonary hypoplasia OMIM:269860
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Car... ORPHA:555874
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Obesity, Renal insufficiency, Nephroblastoma, Hypospadias OMIM:194072
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Obesity, Polydactyly, Brachydactyly, Post... OMIM:615994
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Failure to thrive, Stage 5 chronic kidne... ORPHA:79259
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Momo Syndrome
Tall stature, Obesity, Femoral bowing, Large for gestational age, Short sternum, Overgrowth, Abno... ORPHA:2563
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Proteinuria, Abnormality ... ORPHA:261222
Microtriplication 11Q24.1
Short neck, Scoliosis, Hyperlipidemia ORPHA:289522
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Hypertriglyceridemia ORPHA:79083
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Pancreatic islet-cell hyperplasia ORPHA:276608
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Abnormal heart morphology, Abnormal renal artery ... ORPHA:79328
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Pancreatic islet-cell hyperplasia, Increased hepatic glyco... ORPHA:263455
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia, Increased body weight OMIM:615830
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
2-3 toe syndactyly, Increased body weight, Short foot, Broad hallux OMIM:300860
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Unilateral renal agenesis, Enlarged kidney OMIM:618188
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Obesity, Cholecystitis, Sclerosing c... ORPHA:69663
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Postnatal growth retardation, Renal tubular acidosis, Splenomegaly, Increased b... ORPHA:79240
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cardiomyopathy, Cholestasis, Splenomegaly, ... ORPHA:264580
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Leprechaunism
Nephrocalcinosis, Long penis, Failure to thrive, Hypertrophic cardiomyopathy, Postnatal growth re... ORPHA:508
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Bardet-Biedl Syndrome 12
Hydroureter, Obesity, Hydronephrosis, Abdominal mass, Cystic renal dysplasia OMIM:615989
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Pseudohypoparathyroidism, Type Ic
Obesity, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal OMIM:612462
Zygomycosis
Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Ac... ORPHA:73263
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Failure to thrive, Large for gestational a... OMIM:614520
Ogden Syndrome
Secundum atrial septal defect, Polycythemia, Postnatal growth retardation, Patent foramen ovale, ... OMIM:300855
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis OMIM:306400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood, Atelectasis OMIM:618278
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Prader-Willi Syndrome
Decreased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Scoliosis, K... OMIM:176270
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia ORPHA:536467
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Familial Chylomicronemia Syndrome
Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyceridemia ORPHA:444490
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Abnormal heart morpholo... OMIM:615873
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Thoracic scoliosis, Hypertriglyceridemia, Kyphosis, Sacral dimple ORPHA:536532
Perrault Syndrome 4
Osteoporosis, Obesity, Disproportionate tall stature OMIM:615300
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pulmonary artery atresia, Hydranencephaly, Atelectasis, Pulmonary hypoplasia OMIM:620371
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Atelectasis ORPHA:258
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Diamond-Blackfan Anemia 21
Short toe, Sandal gap, Preaxial hand polydactyly, Obesity, Genu valgum, Hallux valgus, Brachydact... OMIM:620072
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th finger, Short middle phalanx of... ORPHA:319675
Simpson-Golabi-Behmel Syndrome, Type 1
Birth length greater than 97th percentile, Tall stature, Ventricular septal defect, Hepatoblastom... OMIM:312870
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Alstrom Syndrome
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration, Elevated hemoglobin... OMIM:203800
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Retinitis Pigmentosa 74
Obesity, Polydactyly OMIM:616562
Joubert Syndrome 39
Postaxial polydactyly, Overweight, Joint contracture of the 5th finger OMIM:619562
Sotos Syndrome
Long metacarpals, Tall stature, Genu valgum, Joint hypermobility, Increased body weight, Overgrow... OMIM:117550
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Absent hand, Obesity, Postaxial hand pol... ORPHA:3138
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Scoliosis, Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Obesity, Reduced bone mineral density, Recurrent fractures ORPHA:2235
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:280365
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Tall stature, Obesity, Genu valgum, Eunuchoid habitu... ORPHA:91
Oculocerebrorenal Syndrome Of Lowe
Atelectasis, Recurrent respiratory infections, Death in infancy, Umbilical hernia ORPHA:534
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Obesity, Clinodactyly of the 5th finger, Short phalanx of finger, Cone-sha... OMIM:619269
22Q11.2 Deletion Syndrome
Atelectasis, Umbilical hernia, Abnormal lung lobation, Intrauterine growth retardation, Spina bif... ORPHA:567
Thauvin-Robinet-Faivre Syndrome
Tall stature, Large for gestational age, Bifid ureter, Transient neutropenia, Mitral valve prolap... OMIM:617107
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Obesity, Postaxial hand pol... OMIM:181450
19P13.12 Microdeletion Syndrome
Short neck, Scoliosis, Hyperlipidemia, Kyphosis ORPHA:254346
Double Outlet Left Ventricle
Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary v... ORPHA:3427
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Chand Syndrome
Atelectasis ORPHA:1401
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Large for gestational age, Hypoplastic pelvis, Polydactyly, Thin b... OMIM:612731
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small hand, Failure to thrive, Increased body weight, Abdominal obesity, Hip dysplasi... ORPHA:398069
Alagille Syndrome 1
Hemivertebrae, Hypercholesterolemia, Butterfly vertebral arch, Hypertriglyceridemia OMIM:118450
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Proteus Syndrome
Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries... ORPHA:744
Insulinoma
Increased body weight, Abnormality of the pancreatic islet cells ORPHA:97279
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Lumbar hyperlordosis, Hyperlipidemia, Short neck, Ovoid vertebral bodies ORPHA:1830
Perlman Syndrome
Visceromegaly, Renal hamartoma, Nephroblastomatosis, Nephrogenic rest, Ascites, Large for gestati... OMIM:267000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Nephrolithiasis, Increased body weight, Rena... ORPHA:189427
Mandibuloacral Dysplasia Progeroid Syndrome
Supernumerary ribs, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Back pain ORPHA:439232
Hellp Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin con... ORPHA:244242
Insulin-Resistance Syndrome Type B
Nephritis, Biliary cirrhosis, Glycosuria, Abnormality of body weight, Leukopenia, Decreased body ... ORPHA:2298
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Relapsing Polychondritis
Atelectasis ORPHA:728
Glycerol Kinase Deficiency
Hyperglycerolemia, Hypertriglyceridemia OMIM:307030
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia OMIM:619573
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98908
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Obesity, 2-3 toe syndactyly, Postaxial polydactyly, Postaxial hand pol... OMIM:619471
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperlipidemia... ORPHA:77293
Adrenocortical Carcinoma
Increased body weight, Increased urinary cortisol level, Abnormality of urine homeostasis, Weight... ORPHA:1501
Weaver Syndrome
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Tall stature, Joint stiffnes... ORPHA:3447
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:157
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:228308
Digeorge Syndrome
Recurrent pneumonia, Recurrent sinusitis, Atelectasis, Umbilical hernia OMIM:188400
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Decreased HDL cholesterol concentration, H... OMIM:256040
Wiedemann-Rautenstrauch Syndrome
Cervical vertebral dysplasia, Kyphoscoliosis, Hypoplastic vertebral bodies, Atlantoaxial abnormal... ORPHA:3455
Lipodystrophy, Congenital Generalized, Type 2
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:269700
Wiedemann-Rautenstrauch Syndrome
Short neck, Scoliosis, Hypertriglyceridemia OMIM:264090
Atypical Werner Syndrome
Intervertebral disk degeneration, Hypertriglyceridemia ORPHA:79474
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia OMIM:608594
Bardet-Biedl Syndrome
Short neck, Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:110
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Calcinosis ORPHA:90154
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Cushing Disease
Increased urinary cortisol level, Lymphopenia, Leukocytosis, Increased body weight, Truncal obesi... ORPHA:96253
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Increased urinary cortisol level, Lymphopenia, Pancreatic adenoca... ORPHA:99889
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Fabry Disease
Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Scoliosis, Hyperlipidemia ORPHA:293987
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... OMIM:277590
Alström Syndrome
Hyperlipidemia, Thoracic scoliosis, Lumbar scoliosis, Hypertriglyceridemia, Kyphosis ORPHA:64
Carney Complex
Tall stature, Increased body weight, Cardiac myxoma, Abdominal obesity, Neoplasm of the pancreas,... ORPHA:1359
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Woodhouse-Sakati Syndrome
Hyperlipidemia ORPHA:3464
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

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)