Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
caveolae associated 1
Synonyms:
2310075E07Rik,  Cavin,  cavin-1,  Ptrf

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Cavin1 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 Cavin1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia, Precocious pube... ORPHA:528
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia, Failure to thrive, Elevated circulati... OMIM:613327

The table below shows human diseases predicted to be associated to Cavin1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Azoospermia, Oligospermia, Insulin resistance, Hypertriglyceridemia, Type I... OMIM:615703
Rowley-Rosenberg Syndrome
Cor pulmonale, Aminoaciduria, Hypertension, Atelectasis, Right ventricular hypertrophy, Recurrent... OMIM:268500
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Abnormally loud pulmonic component of the second heart sound, Pul... OMIM:265450
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Childhood-onset truncal obesit... ORPHA:71529
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Neonatal d... OMIM:619003
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Cough, Elevated broncho... OMIM:178500
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:276575
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Diabetes mellitus, Diff... OMIM:610717
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Mandibuloacral Dysplasia
Hypercholesterolemia, Hyperinsulinemia, Glucose intolerance, Insulin resistance, Insulin-resistan... ORPHA:2457
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Cardiac conduction abnormality, Exertional dyspnea, Atrial flutter... ORPHA:99105
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Recurrent upper respiratory tract infections, Hypergona... ORPHA:66628
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Insulin-resistant diabetes mellitus, Hypertriglycerid... ORPHA:79085
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Recurrent upper respiratory tract infections, Hypergona... ORPHA:179494
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Abdominal obesity, Elevated circula... OMIM:615980
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperammonemia, Lethargy, Hyperinsulinemic hyp... ORPHA:71212
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Glucose intolerance, Insulin resistance, Impaired glucose tole... OMIM:606721
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonary aterial inti... OMIM:178600
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy OMIM:618189
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ... ORPHA:422
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Hypertriglyceridemia, Tru... OMIM:616222
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperpla... ORPHA:276556
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Elevated pu... ORPHA:217607
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tricuspid regurgita... ORPHA:2414
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Dystonia, Ataxia, Hyperactivity OMIM:615924
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistanc... ORPHA:275766
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypo... ORPHA:276608
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardi... ORPHA:563
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Insulin resistance, Ataxia, Hypertriglyceridemia, Limb dystonia, H... ORPHA:363400
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Gait disturbance, Incre... OMIM:616516
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Atrial flutter, Decreased pulmonary function, Tricuspid regurgitation, Right ... ORPHA:99106
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Insulin-resistant diabetes mellitus, Hypertriglycerid... ORPHA:435660
Multiple Symmetric Lipomatosis
Gait disturbance, Insulin resistance ORPHA:2398
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Exertional dyspnea, Angina pectoris, Right ventricular hypertrophy, Pu... OMIM:265400
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertri... OMIM:604367
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Lethargy, Hypoglycemia, Adrenal insufficiency, Hypertriglyceridemia, S... OMIM:307030
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Meconium Aspiration Syndrome
Wheezing, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pulmonary insufficie... ORPHA:70588
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia... ORPHA:435651
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Cirrhosis, Familial
Pulmonary arterial hypertension, Increased level of L-fucose in urine, Hypertension OMIM:215600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Recurrent respiratory infections, Hyperuricemia, Hyperlipidemia ORPHA:364
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis, Telangiectasia of the skin, Contractures involving the joints of the feet, Mu... ORPHA:220402
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, Unilateral renal agen... OMIM:608406
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Yellow Nail Syndrome
Renal neoplasm, Dyspnea, Pleuritis, Bronchiectasis, Cough, Nephropathy, Rhinitis, Neoplasm of the... ORPHA:662
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Hypertension, Respiratory insufficiency OMIM:605711
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Wide nose OMIM:616033
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79084
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertensive crisis, Abnormal a... ORPHA:3287
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperl... ORPHA:2089
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in infancy, Hepatomegaly, Death in childhood, Cardiomegaly, Pulmonary arterial hypertension OMIM:619064
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Short nose, Pulmonary arterial hypertension, Tetra... OMIM:300887
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly... ORPHA:1329
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Ataxia, Abnormality of th... ORPHA:1227
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Pneumonia, Weight loss, ... ORPHA:2298
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Braddock Syndrome
Pulmonary fibrosis, Congenital muscular torticollis, Unilateral renal agenesis, Neonatal respirat... ORPHA:52047
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Right ventricular failure, Dyspnea, Elevated pulmonary artery pressur... ORPHA:199241
Keutel Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Recurrent sinusitis, Tracheal atresia, Pulm... ORPHA:85202
Glycogen Storage Disease Iii
Hypoglycemia, Broad nasal tip, Elevated circulating creatine kinase concentration, Hyperlipidemia... OMIM:232400
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypogly... ORPHA:263455
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Death in infancy, Bradycardia OMIM:616299
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia, Precocious pube... ORPHA:528
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Overweight, Hypoketotic hypoglycemia, Pneumonia, Small f... ORPHA:26793
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholester... OMIM:618620
Insulinoma
Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neoplasm of the adrenal gland, Pituita... ORPHA:97279
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent respiratory i... OMIM:106700
Retinitis Pigmentosa
Hyperinsulinemia, Wide nasal bridge, Type II diabetes mellitus, Hypogonadism, Anteverted nares, O... ORPHA:791
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Palpitations, Ischemic stroke, Dyspnea, Bacterial endocarditis, Hemothorax,... ORPHA:2038
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Scimitar Syndrome
Single ventricle, Cough, Bronchogenic cyst, Dextrocardia, Double outlet right ventricle, Pulmonar... ORPHA:185
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Tracheal stenosis, Pulmonary arterial hypertens... OMIM:607015
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Antisynthetase Syndrome
Aortic regurgitation, Pulmonary fibrosis, Cough, Respiratory insufficiency, Telangiectasia of the... ORPHA:81
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Failure to thrive, Hyperlipidemia, Hypoglycemia ORPHA:369
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Right ventricular hypertrophy, Anteverted nares, Hypertension OMIM:613623
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hypogonadism, Diabetes mellitus, Insulin resistance OMIM:615381
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Pulmonary fibrosis, Flexion contracture, Hypertensive crisis, Telangiectasia of the skin... ORPHA:220393
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Small f... ORPHA:99886
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Atrial septal defect, Hypertension, Bicuspid aortic valve OMIM:613355
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short nose, Recurrent upper respiratory tract infections, Abnormal heart morphology, Flexion cont... ORPHA:391372
Gaucher Disease, Type I
Dyspnea, Epistaxis, Hypertension, Abnormal pulmonary interstitial morphology, Hepatomegaly, Aorti... OMIM:230800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Hypertension, Cardiomegaly, Pulmonary arterial hypertension, Tachypnea, Anteverted na... OMIM:613320
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Right ventricular failure, Respiratory distress, Abnormal resp... ORPHA:70589
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormality of the larynx, Wide nasal bridge, Hypertriglyceridemia, Abnorma... OMIM:182290
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent upper respiratory tract infections, Recur... OMIM:613101
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypoglycemia, Ataxia, Adrenal insufficiency, Hypertriglyceridemia, Hypoalbuminemi... OMIM:617575
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Cerebral ischemia ORPHA:3325
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia, Truncal obesity, Small for gestati... ORPHA:73272
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Ventricular septal defect, Flexion contracture, Laryngomal... OMIM:608149
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Adrenal calcification, Hypertriglyceridemia ORPHA:75234
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Hand muscle weakness, Exertional dyspnea, Sca... ORPHA:98915
Brain-Lung-Thyroid Syndrome
Megacystis, Atrial septal defect, Respiratory distress, Patent foramen ovale, Pulmonary fibrosis,... ORPHA:209905
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation OMIM:614651
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:3085
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Mixed Connective Tissue Disease
Dyspnea, Pericarditis, Gastrointestinal hemorrhage, Pleuritis, Pulmonary fibrosis, Nephropathy, A... ORPHA:809
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Left ve... OMIM:615474
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Respiratory insufficiency, Type 2 muscle fiber atrophy, Chronic kid... OMIM:613845
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Abnormal pulmonary interstitial morphology, Hypertriglyceridemia... OMIM:619013
Alstrom Syndrome
Recurrent pneumonia, Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypot... OMIM:203800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperl... OMIM:608612
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Insulin resistance, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypert... ORPHA:79083
Hughes-Stovin Syndrome
Dyspnea, Cardiorespiratory arrest, Cough, Pulmonary embolism, Pulmonary artery aneurysm, Hemoptys... ORPHA:228116
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Methylmalonic aciduria, Pulmonary arterial hypertension, Tachypnea, Homocys... OMIM:614857
Perlman Syndrome
Short nose, Anteverted nares, Hyperinsulinemia, Wide nasal bridge ORPHA:2849
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant... ORPHA:79086
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Atrial septal defect, Respiratory insufficiency, Wide nasal bridge, Cor triatriatum, Pulmonic ste... OMIM:612541
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Respiratory distress, Ventricular septal defect, A... ORPHA:210122
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Recurrent pneumonia, Hypogo... OMIM:614962
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Death in adolescence OMIM:619059
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Hematuria, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Epi... ORPHA:774
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, G... ORPHA:2088
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Scleroderma
Intestinal bleeding, Pericarditis, Acute kidney injury, Right ventricular failure, Dyspnea, Pulmo... ORPHA:801
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia, Recurrent respiratory infections OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Griscelli Syndrome Type 1
Hyperlipidemia, Ataxia ORPHA:79476
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammo... OMIM:255120
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Exertional... ORPHA:99050
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance ORPHA:2348
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Elevated... OMIM:617253
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tricuspid regurgitation, Patent foramen ovale, Pulmonary arterial hypertension, Stridor, Macroglo... ORPHA:505248
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Decreased body mass index, Acute hyperammonemia,... ORPHA:247585
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Reduced ejection fraction, Arrhythmia, Hypoventilation, Macroglossia, Congenital muscular dystrop... ORPHA:258
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Systemic Sclerosis
Acute kidney injury, Pericarditis, Chronic kidney disease, Myocarditis, Pulmonary arterial hypert... ORPHA:90291
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Nephropathy, Hy... ORPHA:1830
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Calcinosis, Hy... OMIM:248370
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypothyroidism, Hypertriglyceridemia, Decreased HDL cholestero... ORPHA:412
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Flexion contracture, Hypertension, Pulmonary arterial hypertension, Right bund... OMIM:614008
Short Stature, Microcephaly, And Endocrine Dysfunction
Dysdiadochokinesis, Insulin resistance, Hypothyroidism, Gait disturbance, Long nose, Abnormal cir... OMIM:616541
Atrial Septal Defect 9
Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Hypocapnia, Central sleep apnea, Right ventricular failure, Exertional dyspnea, Car... ORPHA:70591
Rabson-Mendenhall Syndrome
Prominent nasal bridge, Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Increased circu... ORPHA:769
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hypoglycemia, Transient hyperlipidemia ORPHA:156
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Failure to thrive OMIM:602579
Primary Lipodystrophy
Hyperlipidemia, Type II diabetes mellitus, Insulin resistance ORPHA:90970
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia, Failure to thrive, Elevated circulati... OMIM:613327
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Microtriplication 11Q24.1
Hyperlipidemia, Wide nose, Obesity ORPHA:289522
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Ataxia, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Tetrasomy 5P
Respiratory distress, Short nose, Wide nasal bridge, Heart murmur, Congestive heart failure, Pulm... ORPHA:3309
Woodhouse-Sakati Syndrome
Dystonia, Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, De... ORPHA:3464
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Pulmonary arterial hypertension, Hypospadias, Brad... OMIM:619272
Familial Chylomicronemia Syndrome
Decreased body weight, Increased circulating chylomicron concentration, Hypertriglyceridemia, Fai... ORPHA:444490
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Sleep apnea, Central apnea, Congestive heart failure, Pulmonary arterial hypertension, Depressed ... OMIM:616482
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Eisenmenger Syndrome
Ventricular arrhythmia, Wheezing, Exertional dyspnea, Tricuspid regurgitation, Pulmonary arterial... ORPHA:97214
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Hematuria, Dyspnea, Pulmonary fibrosi... ORPHA:90060
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Atrial septal defect, Azoospermia, Flexion contracture of finger, Anteve... OMIM:602782
Gaucher Disease Type 1
Hematuria, Pericardial effusion, Abnormal pulmonary interstitial morphology, Hepatomegaly, Spleno... ORPHA:77259
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Abnormal heart valve morphology, Pulmonary embo... ORPHA:464343
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypothyroidism, Small for gestational age, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Gaucher Disease Type 3
Hematuria, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusion, Abn... ORPHA:77261
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Hydroureter, Pulmonary insufficiency, Alveolar capillary dys... OMIM:265380
Familial Isolated Restrictive Cardiomyopathy
Dyspnea, Supraventricular arrhythmia, Orthopnea, Abnormal left ventricular function, Atrial fibri... ORPHA:75249
Smith-Magenis Syndrome
Hypercholesterolemia, Short nose, Hypothyroidism, Gait disturbance, Failure to thrive in infancy,... ORPHA:819
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypertriglyceridemia OMIM:613027
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,... OMIM:600309
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... OMIM:151660
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short nose, Insulin resistance, Calcinosis, Delayed puberty, Hyperlipidemia ORPHA:90154
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Paroxysmal Nocturnal Hemoglobinuria
Abnormal renal physiology, Angina pectoris, Hemoglobinuria, Pulmonary embolism, Myocardial infarc... ORPHA:447
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Absence of secon... ORPHA:785
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Underdeveloped nasal alae, Prominent ... ORPHA:447980
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Respiratory distress, Ventricular septal defect, Pulmonary arterial hyperte... ORPHA:2519
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Dyspnea, Bulbous nose, Congenital contracture, Bifid nose, Pulmonary arteri... ORPHA:261279
Sarcoidosis, Susceptibility To, 1
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Co... OMIM:181000
Lcat Deficiency
Hypertriglyceridemia ORPHA:650
Familial Multiple Lipomatosis
Hyperlipidemia, Insulin resistance ORPHA:199276
Woodhouse-Sakati Syndrome
Dystonia, Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Elevated ... OMIM:241080
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy,... OMIM:616028
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Insulin resistance, Hypertriglyceridemia, Decreased HDL cholesterol conce... ORPHA:280365
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Elevated pulmonary artery pressure,... OMIM:619351
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Toe walking, Hypertriglyceridemia, Waddling gait, Elevated circulating creatine... ORPHA:98855
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Adrenal insufficiency, Hypertriglyceridemia, Failure to thrive... OMIM:278000
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Eunuchoid habitus,... ORPHA:91
3Q29 Microdeletion Syndrome
Horseshoe kidney, Short nose, Pulmonary arterial hypertension, Hypospadias, Prominent nasal bridg... ORPHA:65286
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Severe failure to thrive, Hyp... OMIM:246200
Spastic Paraplegia Type 2
Spastic/hyperactive bladder, Pulmonary embolism, Recurrent respiratory infections ORPHA:99015
Marshall-Smith Syndrome
Apnea, Atrial septal defect, Short nose, Anteverted nares, Choanal atresia, Hypertension, Laryngo... OMIM:602535
Stuve-Wiedemann Syndrome
Apnea, Short nose, Pulmonary arterial medial hypertrophy, Flexion contracture of toe, Respiratory... OMIM:601559
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Respiratory tract infection, Abnormal circulating lipid concentration, Hype... ORPHA:567548
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Exertional dyspnea, Respir... ORPHA:99125
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Placental Insufficiency
Abnormal lung morphology, Small for gestational age, Insulin resistance ORPHA:439167
X-Linked Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Toe walking, Hypertriglyceridemia, Waddling gait, Elevated circulating creatine... ORPHA:98863
Geleophysic Dysplasia 2
Short nose, Respiratory insufficiency, Hepatomegaly, Tricuspid stenosis, Aortic valve stenosis, M... OMIM:614185
Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Toe walking, Hypertriglyceridemia, Waddling gait, Elevated circulating creatine... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Toe walking, Hypertriglyceridemia, Waddling gait, Elevated circulating creatine... ORPHA:98853
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Elevated circulating creatin... ORPHA:230
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia, Abnormal lung m... ORPHA:439232
Rett Syndrome
Inability to walk, Dystonia, Difficulty walking, Increased serum pyruvate, Increased serum leptin... ORPHA:778
Klippel-Trénaunay Syndrome
Atrial septal defect, Hematuria, Gastrointestinal hemorrhage, Internal hemorrhage, Abnormal tricu... ORPHA:90308
Dermatomyositis
Arrhythmia, Pericarditis, Pulmonary fibrosis, Sinus tachycardia, Diffuse reticular or finely nodu... ORPHA:221
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Pulmonary artery atresia, Abnormal pulmonary valve morphology, Pulmo... ORPHA:974
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia OMIM:603471
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Dyspnea, Hypotension, Abnormal left ventricular fu... ORPHA:97292
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Underdeveloped nasal alae, Ventricular septal defect, Peripheral pulmonary ... ORPHA:163956
Whipple Disease
Pleuritis, Insulin resistance, Hypothyroidism, Hyponatremia, Ataxia, Cachexia ORPHA:3452
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia, Delayed puberty, ... ORPHA:264580
19P13.12 Microdeletion Syndrome
Hypothyroidism, Hyperlipidemia, Obesity, Hyperactivity, Anteverted nares, Precocious puberty, Nar... ORPHA:254346
Fg Syndrome Type 1
Progressive flexion contractures, Atrial septal defect, Mitral valve prolapse, Choanal atresia, P... ORPHA:93932
Opitz Gbbb Syndrome, Type Ii
Abnormality of the kidney, Atrial septal defect, Diastasis recti, Ventricular septal defect, Lary... OMIM:145410
Melas
Dilated cardiomyopathy, Cardiac conduction abnormality, Focal segmental glomerulosclerosis, Wolff... ORPHA:550
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Recurrent lowe... ORPHA:86816
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Increased pulmonary vascular resistance OMIM:615342
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Fasting hypoglycemia, Hypertriglyceridemia, Delayed puberty, Failure to thr... ORPHA:370
Hallermann-Streiff Syndrome
Underdeveloped nasal alae, Recurrent respiratory infections, Tracheomalacia, Hypertension, Recurr... OMIM:234100
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Male urethral meatus stenosis, Hydronephrosis, R... ORPHA:464738
H Syndrome
Azoospermia, Bronchiectasis, Hypertriglyceridemia, Delayed puberty, Recurrent pharyngitis, Hypogo... ORPHA:168569
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Short nose, Anteverted nares, Wide nasal bridge, Pulmonary arterial hypertension, Hypospadias, Hy... ORPHA:2282
Beta-Thalassemia Intermedia
Proximal tubulopathy, Hepatomegaly, Splenomegaly, High-output congestive heart failure, Pulmonary... ORPHA:231222
Schwartz-Jampel Syndrome
Apnea, Arrhythmia, Arthrogryposis multiplex congenita, Skeletal muscle hypertrophy, Abnormality o... ORPHA:800
Short Syndrome
Weight loss, Diabetes mellitus, Wide nasal bridge, Insulin resistance ORPHA:3163
Poems Syndrome
Restrictive ventilatory defect, Pleural effusion, Pericardial effusion, Visceromegaly, Respirator... ORPHA:2905
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormal renal morphology, U... ORPHA:314585
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Gaucher Disease
Arthrogryposis multiplex congenita, Hematuria, Pulmonary fibrosis, Abnormal heart valve morpholog... ORPHA:355
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Atrial septal defect, Abnormal renal collecting system morphology, Short nose, Hydroureter, Hyper... ORPHA:280633
Griscelli Syndrome Type 2
Pulmonary infiltrates, Hyperlipidemia ORPHA:79477
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Exertional dyspnea, Melena, Cerebral hemorrhage,... OMIM:187300
Melnick-Needles Syndrome
Stillbirth, Pulmonary arterial hypertension, Hydronephrosis, Tricuspid valve prolapse, Ureteral s... OMIM:309350
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, Sleep apnea, Horseshoe kidney, Short nose, Patent foramen ovale, Abnormal heart mor... ORPHA:444077
Familial Thrombocytosis
Cerebral ischemia, Splenomegaly, Pulmonary arterial hypertension, Transient ischemic attack, Syncope ORPHA:71493
Monosomy 13Q34
Insulin resistance, Obesity, Broad nasal tip, Infantile hypercalcemia, Prominent nasal bridge, Pr... ORPHA:96168
Xp21 Deletion Syndrome
Primary adrenal insufficiency, Elevated circulating creatine kinase concentration, Hypertriglycer... ORPHA:261476
Glycogen Storage Disease Ic
Spider hemangioma, Hematuria, Focal segmental glomerulosclerosis, Hypertension, Decreased glomeru... OMIM:232240
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyp... OMIM:608594
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Insulin resistance ORPHA:90153
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Respiratory distress, Abnormal heart morphology, Subdural hemorrhage, Glo... ORPHA:79282
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma total carnitine, Hypoketotic hypoglycemia, Decreased plasma free carnitine, Elev... ORPHA:157
Prader-Willi Syndrome
Hyperinsulinemia, Recurrent respiratory infections, Failure to thrive in infancy, Narrow nasal br... OMIM:176270
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Progressive cerebellar ataxia, Small for gestational... OMIM:210740
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyp... OMIM:269700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity ORPHA:209902
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Patent foramen ovale, Bronchiectasis, Recurrent upper respiratory tract infections, Renovascular ... ORPHA:391487
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoglycemia, Reduced C-peptide level, Hypoinsulinemia, Weight loss, Ne... ORPHA:2126
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Failure to thrive in infancy, Cachexia, Recurrent hypog... ORPHA:813
Niemann-Pick Disease Type B
Decreased serum insulin-like growth factor 1, Abnormal circulating lipid concentration, Ataxia, A... ORPHA:77293
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Fontaine Progeroid Syndrome
Atrial septal defect, Short nose, Abnormal heart morphology, Death in infancy, Hypoplasia of the ... OMIM:612289
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, Pulmonary arterial ... OMIM:600376
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hypothyroidism, Pleural effusion, Hyponatremia, Hypertriglyceridemia, Hypoalbuminem... OMIM:618183
Glycogen Storage Disease Ia
Xanthelasma, Hyperuricemia, Hypoglycemia, Delayed puberty, Hyperlipidemia OMIM:232200
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Werner Syndrome
Slender build, Insulin resistance, Laryngomalacia, Thyroid carcinoma, Pulmonary artery stenosis, ... ORPHA:902
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Glycogen Storage Disease Ib
Xanthelasma, Hyperuricemia, Hypoglycemia, Delayed puberty, Hyperlipidemia OMIM:232220
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hypoketotic hypoglycemia, Decreased plasma free carnitine, Elev... ORPHA:228308
Gitelman Syndrome
Hypocalcemia, Hypomagnesemia, Maternal diabetes, Graves disease, Hypermagnesemia, Glucose intoler... ORPHA:358
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Difficulty walking, Hypertriglyceridemia, Dia... ORPHA:98908
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Lethargy, ... ORPHA:470
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Atypical Werner Syndrome
Hyperinsulinemia, Hyperglycemia, Abnormality of circulating leptin level, Neoplasm of the thyroid... ORPHA:79474
Adams-Oliver Syndrome 1
Atrial septal defect, Ventricular septal defect, Hypertension, Pulmonic stenosis, Aortic valve st... OMIM:100300
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Emphysema, Hypertriglyceridemia, Abnormality of the pulmonary artery, Pulmo... ORPHA:363618
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hyperlipidemia ORPHA:35909
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Premature adrenarche, Central hypothyroidism, Hypon... ORPHA:293987
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Difficulty walking, Ataxia ORPHA:98907
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypercholesterolemia, Xanthelasma, Thyroiditis, Hypothyroidism, Hyperurice... ORPHA:79259
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Abnormal lung lobation, Wide nasal bridge, Obesity, Hypertriglyceridemia, Hypercalcemia, Hypopara... ORPHA:369837
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Tetrasomy 9P
Multiple renal cysts, Horseshoe kidney, Pericarditis, Bulbous nose, Oligospermia, Patent foramen ... ORPHA:3310
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Pulmonary fibrosis, Spontaneous, recurrent epistaxis, Mitral valve calcification, Ab... ORPHA:2072
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hyperlipidemia ORPHA:565612
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Diabetes mellitus ORPHA:536532
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Camptodactyly, Interphalangeal joint contracture of finger, Pulmonary artery stenosis, Pulmonary ... ORPHA:96334
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Atrial septal defect, Short nose, Anteverted nares, Joint contracture of th... ORPHA:363611
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Failure to thrive, Sinusitis OMIM:617591
Steinert Myotonic Dystrophy
Inability to walk, Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Insulin resistance,... ORPHA:273
Yunis-Varon Syndrome
Ventricular septal defect, Micropenis, Pulmonary arterial hypertension, Hypospadias, Tetralogy of... OMIM:216340
Bloom Syndrome
Respiratory tract infection, Azoospermia, Insulin resistance, Oligospermia, Pneumonia, Small for ... ORPHA:125
Incontinentia Pigmenti
Camptodactyly of finger, Telangiectasia of the skin, Congestive heart failure, Cerebral ischemia,... ORPHA:464
Lysosomal Acid Lipase Deficiency
Hypovolemia, Hypernatriuria, Hypotension, Abnormal urine potassium concentration, Renal salt wast... ORPHA:275761
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Small for gestational age, Failur... ORPHA:96182
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Aortic regurgitation, Exertional dyspnea, Angina pectoris, Intracranial ... ORPHA:740
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Respiratory tract infection, Dyspnea, Albuminuria, Focal segmental glomerulosclerosis, Pleural ef... ORPHA:567546
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Inability to walk, Hypoproteinemia, Pleural effusio... ORPHA:167
Autosomal Recessive Malignant Osteopetrosis
Apnea, Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Chronic rhinitis, Pulmona... ORPHA:667
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Camptodactyly of finger, Ventricular hypertrophy, Aortic regurgitation, Ventricular septal defect... OMIM:143095
Multisystemic Smooth Muscle Dysfunction Syndrome
Hyperperistalsis, Tachypnea, Pulmonary arterial hypertension, Hypertension OMIM:613834
Polycythemia Vera
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari syndrome, Ep... ORPHA:729
Yunis-Varon Syndrome
Atrial septal defect, Anteverted nares, Ventricular septal defect, Renovascular hypertension, Hyp... ORPHA:3472
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Hyperphosphaturia, Left ventricular systolic dysfu... ORPHA:51608
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Small for gestational age, Hyperlipidemia, Abnormal circulating fa... ORPHA:567983
Blau Syndrome
Camptodactyly of finger, Dyspnea, Pericarditis, Large vessel vasculitis, Nephropathy, Hypertensio... ORPHA:90340
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Impaired glucose tolerance, Recurrent sinusitis, El... OMIM:256040
Tenorio Syndrome
Gait disturbance, Pneumonia, Hypoglycemia, Hypoinsulinemia, Anteverted nares, Wide nose OMIM:616260
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Underdeveloped nasal alae, Bulbous nose, Elevated hemoglobin A1c, Hypertrigl... OMIM:619127
17Q11 Microdeletion Syndrome
Abnormality of the sphenoid sinus, Abnormal lung morphology, Abnormal heart morphology, Renovascu... ORPHA:97685
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99226
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Aortic valve stenosis, Tricuspid valve prolapse ORPHA:2396
Alagille Syndrome 1
Hypercholesterolemia, Peripheral pulmonary artery stenosis, Hypertriglyceridemia, Failure to thri... OMIM:118450
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
49,Xxxxy Syndrome
Azoospermia, Pulmonary embolism, Renal dysplasia, Asthma, Hypoplasia of penis, Renal hypoplasia/a... ORPHA:96264
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism ORPHA:745
Wiedemann-Rautenstrauch Syndrome
Truncal ataxia, Hypertriglyceridemia, Failure to thrive, Recurrent respiratory infections, Increa... OMIM:264090
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
48,Xxxy Syndrome
Azoospermia, Renal dysplasia, Pulmonary embolism, Asthma, Hypoplasia of penis, Recurrent respirat... ORPHA:96263
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Hematochezia, Spontaneous, recurrent epistaxis, Pulmonary arterioven... ORPHA:2929
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism ORPHA:743
Fabry Disease
Emphysema, Abnormal circulating lipid concentration, Delayed puberty, Diabetes insipidus, Hyperli... ORPHA:324
Alström Syndrome
Recurrent urinary tract infections, Chronic kidney disease, Pulmonary arterial hypertension, Abno... ORPHA:64
Behçet Disease
Abnormal myocardium morphology, Pleuritis, Pericarditis, Aortic regurgitation, Gastrointestinal h... ORPHA:117
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Budd-Chiari syndrome, Pneumonia OMIM:226300
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia ORPHA:624
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Neuroleptic Malignant Syndrome
Arrhythmia, Acute kidney injury, Hypotension, Hypertensive crisis, Rhabdomyolysis, Hypertension, ... ORPHA:94093
Cog1-Cdg
Pulmonary arterial hypertension, Hepatosplenomegaly, Atrial septal dilatation, Wide nasal bridge ORPHA:263508
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Supraventricular arrhythmia, Pulmonary fibrosis, Intracranial hemo... ORPHA:3260
Wiedemann-Rautenstrauch Syndrome
Slender build, Truncal ataxia, Increased serum testosterone level, Increased serum estradiol, Ata... ORPHA:3455
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Pulmonary granulomatosis, Rec... ORPHA:2442
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Insulin resistance, Elevated... ORPHA:79318
Leukocyte Adhesion Deficiency
Respiratory tract infection, Hyperinsulinemic hypoglycemia, Bronchiectasis, Pneumonia, Lymphocyti... ORPHA:2968
Angioosteohypertrophic Syndrome
Hematuria, Gastrointestinal hemorrhage, Telangiectasia of the skin, Pulmonary embolism, Congestiv... ORPHA:2346
Classic Homocystinuria
Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension, Hepatomegaly, Pulmonary embol... ORPHA:394
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Dehydrated Hereditary Stomatocytosis
Pulmonary venous hypertension, Splenomegaly ORPHA:3202
Proteus Syndrome
Decreased muscle mass, Long penis, Sudden cardiac death, Pulmonary embolism, Bronchogenic cyst, R... ORPHA:744
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism ORPHA:3205

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 Cavin1

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 Cavin1.

No publications found that use IMPC mice or data for Cavin1.

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MGI Allele Allele Type Produced
Cavin1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cavin1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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