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Gene: Cavin1 MGI:1277968

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hyperchol... ORPHA:528
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Failure to thrive, Hyperinsulinemia, Elevated circulatin... OMIM:613327

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, ... OMIM:615703
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ... OMIM:613255
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in childhood, Death in ... OMIM:618189
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev... OMIM:265450
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Neonatal death, Pulmonary arterial hypertension, Lacticaciduria, Elevated urinary... OMIM:619003
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Hypertriglyceridemia 1
Hypopituitarism, Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Death in adolescence, Pulmonary arterial hypertension, ... OMIM:619751
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... ORPHA:71212
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Pulmonary arterial hypertension, Pulmonary... OMIM:178500
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion OMIM:234810
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulatin... OMIM:615980
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hypertrigly... ORPHA:79085
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... ORPHA:276556
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hypertriglyceridemia OMIM:619175
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Multiple Symmetric Lipomatosis
Insulin resistance, Gait disturbance ORPHA:2398
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hypertriglyceridemia, Increased C-peptide level, Decreased serum lep... OMIM:615238
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Recurrent respiratory infections, Hyperlipidemia, Hypoglycemia ORPHA:364
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Loss... OMIM:616516
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Gait ataxia, Hypertriglyceridemia, Ataxia ORPHA:363400
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:608600
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, ... ORPHA:2089
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Pleural effusion, Pulmonary arterial hypertens... ORPHA:2414
Lipoyltransferase 1 Deficiency
Death in infancy, Pulmonary arterial hypertension, Bradycardia, Alaninuria, Hyperglutaminuria, La... OMIM:616299
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Elevated ci... ORPHA:435660
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Foot joint contracture, Telangiectasia of the skin, Pulmonary arte... ORPHA:220402
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pulmonary arterial hypertension, Pneumothorax, Facial palsy, Abnorma... OMIM:612387
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:607616
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hypertriglyceridemia OMIM:615924
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent respiratory i... OMIM:106700
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemi... ORPHA:79237
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, Hypertriglyceridemia... OMIM:618620
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Hypoplasia of the diaphragm, Ventricular septal defect, Atrial... ORPHA:185
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... ORPHA:71526
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Obesity, Hypoca... ORPHA:26793
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Allergic Bronchopulmonary Aspergillosis
Emphysema, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
Glycogen Storage Disease Ixa1
Hyperuricemia, Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertr... ORPHA:435651
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Sengers Syndrome
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Myopathy, Pulmonary arterial hypertensi... OMIM:212350
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Large for gesta... ORPHA:263455
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hyperchol... ORPHA:528
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia OMIM:605911
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:616033
Hypertriglyceridemia, Transient Infantile
Failure to thrive, Hypertriglyceridemia OMIM:614480
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism, Miscarriage ORPHA:82
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Hyperlipidemia, Failure to thrive, Hypoglycemia ORPHA:369
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... ORPHA:99104
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Pulmonary arterial hypertension, Death in childhood, Death in infancy OMIM:619064
Yellow Nail Syndrome
Nephropathy, Pulmonary arterial hypertension, Renal neoplasm, Recurrent respiratory infections, P... ORPHA:662
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... OMIM:615812
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... OMIM:300887
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce... ORPHA:3287
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Diabetes mellitus, Hypertriglyceridemia OMIM:615381
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Pulmonary arterial hypertension, Pneumothorax, Abnormal heart ... ORPHA:70588
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent sinusitis, Hypertriglycer... OMIM:620282
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Failure to thrive OMIM:610768
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Braddock Syndrome
Unilateral renal agenesis, Pulmonary arterial hypertension, Congenital muscular torticollis, Pulm... ORPHA:52047
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Keutel Syndrome
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp... ORPHA:85202
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Abnormal heart morphology, Pulmonary arterial hyper... ORPHA:391372
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Pulmonary embolism, Myocardial infarction ORPHA:3325
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Cholesteryl Ester Storage Disease
Adrenal calcification, Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Increased circulating ferritin concentration, Recur... OMIM:613101
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino... OMIM:605711
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... OMIM:617253
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypopituitarism, Hypothyroidism, Hypertriglyceridemia, Abnormal pulmonary inters... OMIM:619013
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperuricemia, Maternal diabetes, Hypert... ORPHA:79083
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity ORPHA:3085
Methanol Poisoning
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia ORPHA:31825
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Pulmonary Arteriovenous Malformation
Epistaxis, Bacterial endocarditis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations,... ORPHA:2038
Overlap Myositis
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Abnormal heart morp... ORPHA:206572
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Pulmonary arterial ... ORPHA:220393
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Pulmonary arterial hypertension, Telangiectasia of the skin, Myoc... ORPHA:81
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac... ORPHA:464343
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Reni Syndrome
Hypoalbuminemia, Ataxia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hyper... OMIM:617575
Griscelli Syndrome Type 1
Hyperlipidemia, Ataxia ORPHA:79476
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Systolic h... ORPHA:980
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Pleural effusion OMIM:603278
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate excretion i... OMIM:607015
Acquired Generalized Lipodystrophy
Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... ORPHA:79086
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Death in adolescence, Pulmonary arterial hypertension OMIM:619059
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Pulmonary hypoplasia, Pulmonary artery atresia, Congestive heart failure,... ORPHA:99050
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Ob... ORPHA:412
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Diabetes mellitus, Hypertriglyceridemia ORPHA:2348
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hypophosphatemia, Fasting hypoglycemia... ORPHA:2088
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi... OMIM:615067
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Nephrolithiasis, Ventri... ORPHA:369929
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Nephrolith... OMIM:615474
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Dilatation of the bladder, Neonatal death, Ventricular septal def... OMIM:265380
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Transient hyperlipidemia, Hypoglycemia ORPHA:156
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu... OMIM:277460
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Abnormal... OMIM:230800
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Megacystis, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal ... ORPHA:209905
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, T... ORPHA:73272
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ventricular septal defect, Hematuria, Overriding aorta, Pul... OMIM:617021
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Failure to thrive, Hyperinsulinemia, Elevated circulatin... OMIM:613327
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Delayed mena... ORPHA:247585
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Myositis, Pulmonary arterial hypertension, Myocarditis,... ORPHA:809
Kagami-Ogata Syndrome
Diastasis recti, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect... OMIM:608149
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:614025
Hypobetalipoproteinemia, Familial, 1
Ataxia, Hypocholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Decre... OMIM:615558
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... OMIM:151660
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Death in infancy, Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Hypertriglyceridemia OMIM:613027
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Telangiectasia, Glomerulonephritis, Abnormality of t... ORPHA:90291
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hyperlipidemia, Decreased bod... ORPHA:444490
Immunodeficiency 114, Folate-Responsive
Recurrent lower respiratory tract infections, Increased circulating ferritin concentration, Hyper... OMIM:620603
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Pleural effusio... OMIM:620233
Mpi-Cdg
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive ORPHA:79319
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Atrial septal defect, Pulmonary arterial hypertension, Methylmalonic aciduria OMIM:614857
Smith-Magenis Syndrome
Increased body weight, Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Placental Insufficiency
Insulin resistance, Abnormal lung morphology, Small for gestational age ORPHA:439167
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Pulmonary arterial hypertension, Typ... OMIM:613845
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Broad-based gait, Abnormal circulating lipid concentration, Dysmetria, Hypoth... OMIM:616541
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Pulmon... ORPHA:98915
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615343
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral re... ORPHA:75249
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous v... OMIM:620642
Leptin Deficiency Or Dysfunction
Recurrent pneumonia, Recurrent upper respiratory tract infections, Hypogonadism, Obesity, Decreas... OMIM:614962
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia, Small for gestational age OMIM:256300
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Pulmonary arterial hypertension, Hypospadias, Bradycardia OMIM:619272
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Congestive he... ORPHA:1830
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Abnormal lung morphology, Diabetes... ORPHA:439232
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Failure to thrive, Increased circulating ferritin concentration, Increas... OMIM:267700
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Ventricular septal defect, Hydronephrosis, Pulmonary arterial hypertension, ... OMIM:616449
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:602579
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Right ventricula... OMIM:616028
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wa... ORPHA:3309
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia ORPHA:199276
Werner Syndrome
Hypogonadism, Elevated hemoglobin A1c, Diabetes mellitus, Hypertriglyceridemia OMIM:277700
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Alstrom Syndrome
Recurrent pneumonia, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration... OMIM:203800
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Recurrent respiratory infections, Congestive heart failure, Hypertrophic cardiomyop... ORPHA:505248
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Recurrent pneumonia, Small for gestational age, Failure to thrive OMIM:214150
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Increased LDL cholesterol concentration, Obesity, Elevated circulating creatine kin... ORPHA:98855
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Hypertriglyceridemia, Decreased HDL cholesterol ... ORPHA:280365
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Muscular dystrophy, Cardiomyopathy, Atelectasis, Absent muscle fiber merosin, Reduc... ORPHA:258
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Tra... OMIM:255120
ERI1-related disease
Tricuspid regurgitation, Abnormal heart morphology, Vesicoureteral reflux, Ventricular septal def... OMIM:608739
Pulmonary Hypertension, Primary, 2
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... OMIM:615342
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism, Spastic/hyperactive bladder ORPHA:99015
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... OMIM:248370
Smith-Magenis Syndrome
Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Hypercholesterolemia, ... ORPHA:819
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ... ORPHA:158057
Aromatase Deficiency
Insulin resistance, Obesity, Type II diabetes mellitus, Hyperlipidemia, Eunuchoid habitus, Hyperg... ORPHA:91
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Urinary incontinence, Congestive heart failure, Pulmonary arterial hypertension, Neonatal death OMIM:616482
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Respiratory tract infection, Hyperchol... ORPHA:567548
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Recurrent upper respiratory tract infections, Elevated circulating thyroid-stimu... OMIM:618183
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Hematuria, Proteinuria, Pulmonary ar... ORPHA:77261
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Increased LDL cholesterol concentration, Obesity, Elevated circulating creatine kin... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Increased LDL cholesterol concentration, Obesity, Elevated circulating creatine kin... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Increased LDL cholesterol concentration, Obesity, Elevated circulating creatine kin... ORPHA:98853
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... OMIM:246200
Tangier Disease
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Bacterial endo... ORPHA:97214
Cholesteryl Ester Storage Disease
Failure to thrive, Adrenal calcification, Increased LDL cholesterol concentration, Adrenal insuff... OMIM:278000
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Transient ischemic attack, Stage 5 chronic kidney disease, Re... OMIM:242900
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia OMIM:603471
Prader-Willi Syndrome
Precocious puberty, Class III obesity, Failure to thrive in infancy, Decreased response to growth... OMIM:176270
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Delayed puberty, Hyperlipidemia, Calcinosis ORPHA:90154
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... OMIM:614921
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary arterial hypertension, Pulmonary embolism ORPHA:228116
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Micropenis, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect ORPHA:2519
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Spontaneous pneumothorax, Dysdiadochokinesis, Failu... OMIM:606721
Neutral Lipid Storage Disease With Myopathy
Difficulty walking, Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypert... OMIM:610717
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Recurrent lower respiratory tract... ORPHA:86816
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Pulmonary arterial hypertension, Atrial septal defect, Hypoperistals... OMIM:613834
Whipple Disease
Insulin resistance, Hyponatremia, Cachexia, Hypothyroidism, Ataxia, Pleuritis ORPHA:3452
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Recurrent upper respiratory tract infections, Secundum atrial septal defect, Rec... OMIM:612541
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased bo... ORPHA:264580
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... ORPHA:650
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Tetralogy of Fallot, Portal hypertension, Abnormal pulmonary valve m... ORPHA:974
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Renal cortical hyperechogenicity, Pulmonary hypoplasia, Anuria, Megacystis, ... OMIM:619351
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Elevated circulating creatine kinase concentration, Increased body weight... ORPHA:79240
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Vesicoureteral reflux, Mitral stenosis... ORPHA:163956
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Mucopolysaccharidosis, Type Vi
Pneumonia, Macroglossia, Recurrent upper respiratory tract infections, Sinus tachycardia, Cardiom... OMIM:253200
H Syndrome
Hypogonadism, Azoospermia, Hypertriglyceridemia, Delayed puberty, Recurrent pharyngitis, Diabetes... ORPHA:168569
Familial Thrombocytosis
Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypertension, Syncope, Miscarriage ORPHA:71493
Cirrhosis, Familial
Increased level of L-fucose in urine, Pulmonary arterial hypertension, Hypertension OMIM:215600
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Hypotension, Methylmalonic aciduria, Cystathion... OMIM:277400
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Male urethral meatus stenosis, Contracture of the proximal interphalangeal j... ORPHA:464738
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, Pulmon... OMIM:620663
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Smal... OMIM:269880
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Azoospermia, Facial telangiectasia, Joint con... OMIM:602782
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus at puberty, Diabetes ... OMIM:608594
Melas
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Dilated cardiomyopathy, Ca... ORPHA:550
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val... ORPHA:90308
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Lethargy, Hypertriglyceridemia, H... OMIM:307030
Gaisböck Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,... ORPHA:90041
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Werner Syndrome
Insulin resistance, Hypogonadism, Slender build, Thyroid carcinoma, Type II diabetes mellitus, Pu... ORPHA:902
Glycogen Storage Disease Ia
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty, Fasting hypoglycemia OMIM:232200
Fg Syndrome Type 1
Mitral valve prolapse, Pulmonary arterial hypertension, Progressive flexion contractures, Atrial ... ORPHA:93932
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce... ORPHA:99094
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Failure to thrive, Increased total bilirubin, Increased circulating ferr... OMIM:603553
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Abnormal renal collecting s... ORPHA:280633
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Elevat... OMIM:269700
3Q29 Microdeletion Syndrome
Horseshoe kidney, Pulmonary arterial hypertension, Hypospadias, Subvalvular aortic stenosis ORPHA:65286
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia ORPHA:90153
Xp21 Deletion Syndrome
Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen... ORPHA:261476
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... ORPHA:157
19P13.12 Microdeletion Syndrome
Precocious puberty, Obesity, Hypothyroidism, Hyperlipidemia ORPHA:254346
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Myopathy, Weakness... OMIM:254940
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Spider hemangioma, Recurrent upper respiratory tract infectio... OMIM:232240
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Goiter, Primary gonadal insufficiency, Small for gestational... OMIM:210740
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia ORPHA:209902
Melnick-Needles Syndrome
Ureteral stenosis, Mitral valve prolapse, Hydronephrosis, Tricuspid valve prolapse, Pulmonary art... OMIM:309350
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperli... OMIM:615947
Short Syndrome
Insulin resistance, Weight loss, Diabetes mellitus ORPHA:3163
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Tricuspid regurgitation, Emphysema, Conge... OMIM:614437
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Congenital diaphragmatic hernia, Patent fo... OMIM:618454
17Q23.1Q23.2 Microdeletion Syndrome
Pulmonary arterial hypertension, Congenital contracture, Atrial septal defect ORPHA:261279
15Q Overgrowth Syndrome
Ureterovesical stenosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Hor... ORPHA:314585
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Hematuria, Telangiectasia, Retinal telangiectasia, Gastrointestinal ... ORPHA:774
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Immunodeficiency 97 With Autoinflammation
Bronchiolitis obliterans organizing pneumonia, Recurrent sinopulmonary infections, Increased circ... OMIM:619802
Neutral Lipid Storage Myopathy
Difficulty walking, Abnormal circulating creatine kinase concentration, Pineal cyst, Hypertriglyc... ORPHA:98908
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Pulmonary arterial hypertension, Hypercalciuria, Pericardial effusio... OMIM:181000
Crimean-Congo Hemorrhagic Fever
Hematuria, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperiton... ORPHA:99827
Gaucher Disease Type 1
Hematuria, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Portal hy... ORPHA:77259
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Elbow flexion contracture, Knee flexion contracture, Death in infancy... OMIM:601559
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
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Left atrial enlargement, Pulm... OMIM:614008
Lymphatic Malformation 13
Mitral regurgitation, Patent foramen ovale, Neonatal death, Pulmonary arterial hypertension, Atri... OMIM:620244
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Ogden Syndrome
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Premature ventricular contraction... OMIM:300855
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... ORPHA:228308
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Functional abnormality of the bladder, Congestive h... ORPHA:391487
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Failure to thrive, Hyp... ORPHA:79474
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary... OMIM:620025
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Failure to thrive, Increased circulating ferritin concen... ORPHA:470
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Pulmonary embolism, Subdural hemorrhag... ORPHA:79282
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Proximal tubulopathy, High-output congestive heart failure ORPHA:231222
Chronic Visceral Acid Sphingomyelinase Deficiency
Ataxia, Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperl... ORPHA:77293
Bardet-Biedl Syndrome 1
Insulin resistance, Ataxia, Hypogonadism, Obesity, Gait imbalance, Nephrogenic diabetes insipidus... OMIM:209900
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Micropenis, Recurrent respiratory infections, Pulmonary arterial hypertension, Hypospadias ORPHA:2282
Rett Syndrome
Failure to thrive, Increased serum leptin, Difficulty walking, Inability to walk, Hyperammonemia,... ORPHA:778
Dermatomyositis
Vasculitis, Sinus tachycardia, Inflammatory myopathy, EMG: myopathic abnormalities, Lung adenocar... ORPHA:221
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia ORPHA:96168
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Graves disease, Failure to thrive,... ORPHA:358
Poems Syndrome
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion ORPHA:2905
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Skeletal muscle atrophy, Shoulder flexion contracture, Skeleta... ORPHA:800
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pu... OMIM:100300
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Pulmonary ar... OMIM:614185
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Death in childhood, Ventricul... OMIM:602535
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypothyroidism, Hype... ORPHA:79259
Glycogen Storage Disease Ib
Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty OMIM:232220
Neutral Lipid Storage Disease With Ichthyosis
Difficulty walking, Abnormal circulating creatine kinase concentration, Ataxia, Hypertriglyceridemia ORPHA:98907
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Hypoglycemia, Failure to thrive in infancy, Multiple pulmonary cysts, Hypertri... OMIM:619418
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Abnormal heart morphology, Death in infancy, Neonatal death, Bicuspid ao... OMIM:612289
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Horseshoe kidney, Aspiration pneumonia, Abnormal heart morphology, Vesi... ORPHA:444077
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Hematuria, Proteinuria, Irregular septal thickening on pulmonary H... ORPHA:90060
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Bloom Syndrome
Insulin resistance, Pneumonia, Bronchitis, Azoospermia, Respiratory tract infection, Oligozoosper... ORPHA:125
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery, Hypercholesterolemia, Hypertriglyceridemia, Pulmo... ORPHA:363618
Lymphoid Interstitial Pneumonia
Bronchiectasis, Subpleural interstitial thickening, Pulmonary venous hypertension, Respiratory tr... ORPHA:79128
Gaucher Disease
Aortic valve calcification, Abnormal pericardium morphology, Abnormal heart valve morphology, Dea... ORPHA:355
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Flexion contracture, Pulmonary arterial hypertension, Camptodactyly OMIM:620029
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Dark urine, Neonatal de... OMIM:619534
Hallermann-Streiff Syndrome
Recurrent pneumonia, Telangiectasia, Pulmonary arterial hypertension, Recurrent respiratory infec... OMIM:234100
Primary Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Hyperlipidemia, Diabetes mellitus ORPHA:565612
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Falls, Decreased response to growth hormone stimulation te... ORPHA:273
Tetrasomy 9P
Pulmonary hypoplasia, Recurrent urinary tract infections, Horseshoe kidney, Abnormal mitral valve... ORPHA:3310
Degcags Syndrome
Chronic kidney disease, Pneumonia, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal h... OMIM:619488
Classical-Like Ehlers-Danlos Syndrome Type 2
Diabetes mellitus, Hypertriglyceridemia ORPHA:536532
Lysosomal Acid Lipase Deficiency
Failure to thrive, Adrenal calcification, Xanthelasma, Primary adrenal insufficiency, Hyponatremi... ORPHA:275761
Incontinentia Pigmenti
Congestive heart failure, Camptodactyly of finger, Cerebral ischemia, Telangiectasia of the skin,... ORPHA:464
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Abnormal lung lobation, Obesity, Hypertriglyceridemia, Hypoparathyroidism, Hy... ORPHA:369837
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Pu... ORPHA:567546
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Dysmetria OMIM:620185
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent... OMIM:619573
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Recurrent upper respiratory tract infections, Central hypothyroidism, Incre... ORPHA:293987
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Premature adrenarche, Precocious puberty, Failure to thrive, Decreased respon... ORPHA:96182
Geleophysic Dysplasia 1
Aortic valve stenosis, Joint contracture of the hand, Congestive heart failure, Camptodactyly of ... OMIM:231050
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Inability to walk, Pleural effusion, Hypertriglycer... ORPHA:167
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hypertriglyceridemia OMIM:617591
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Failure to thrive, Elevated circulating thyroid-sti... OMIM:256040
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Azoospermia, Spontaneous, recurrent epistaxis... ORPHA:2072
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Renal hypoplasia, Portal hypertension, Patent foramen ovale, Pulmonary arterial hypertension, Atr... OMIM:620005
Bardet-Biedl Syndrome
Insulin resistance, Ataxia, Hypogonadism, Obesity, Impaired fasting glucose, Type II diabetes mel... ORPHA:110
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Camptodactyly of finger, Tr... OMIM:143095
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Mitral regurgitation, Phimosis, Joint contracture of the 5th finger, Pulmon... ORPHA:363611
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Recurrent respirator... OMIM:620186
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Small for gestational age, Conjuga... ORPHA:567983
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Interphalangeal joint contracture of finger, Hypertrophic cardiomyopathy, Diastasis recti, Ventri... ORPHA:96334
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Aortic valve calcification,... ORPHA:740
Autosomal Recessive Malignant Osteopetrosis
Pulmonary artery stenosis, Recurrent respiratory infections, Pulmonary arterial hypertension, Abn... ORPHA:667
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Blau Syndrome
Nephropathy, Camptodactyly of finger, Large vessel vasculitis, Stage 5 chronic kidney disease, Cl... ORPHA:90340
Osteopetrosis With Renal Tubular Acidosis
Distal renal tubular acidosis, Renal tubular acidosis, Nephrolithiasis, Hydronephrosis, Pulmonary... ORPHA:2785
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Hypertensi... ORPHA:3472
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Tricuspid valve prolapse, Pulmonary arterial hypertension ORPHA:2396
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Hypoplasia of deltoid muscle, Sinus bradycar... OMIM:142900
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Right ventricular failure, Bronchitis, Interlobular septal thickening, S... ORPHA:60025
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Left ventricular systolic d... ORPHA:51608
Viss Syndrome
Coronary sinus enlargement, Pulmonary artery aneurysm, Right ventricular dilatation, Emphysema, M... OMIM:619472
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Failure to thrive, Hypertriglyceridemia, Hypercholesterolem... OMIM:118450
Fabry Disease
Abnormal circulating lipid concentration, Emphysema, Hyperlipidemia, Delayed puberty, Diabetes in... ORPHA:324
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Glucose intolerance, Hypertriglyceridemia OMIM:619127
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Abnormal heart morphology, Renal artery stenosis, ... ORPHA:97685
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism ORPHA:745
Sickle Cell Anemia
Pulmonary arterial hypertension, Ischemic stroke ORPHA:232
Neuroleptic Malignant Syndrome
Hypertensive crisis, Acute kidney injury, Hypotension, Pulmonary embolism, Aspiration pneumonia, ... ORPHA:94093
49,Xxxxy Syndrome
Pulmonary embolism, Recurrent respiratory infections, Azoospermia, Renal hypoplasia/aplasia, Hypo... ORPHA:96264
48,Xxxy Syndrome
Pulmonary embolism, Recurrent respiratory infections, Azoospermia, Hypoplasia of penis, Renal dys... ORPHA:96263
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Transient ischemic attack, Spontaneous, rec... ORPHA:2929
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Wiedemann-Rautenstrauch Syndrome
Ataxia, Failure to thrive, Increased circulating prolactin concentration, Decreased response to g... ORPHA:3455
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism ORPHA:743
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage ORPHA:624
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Failure to thrive, Hypoplasia of the thymus, Increased serum testosterone level, Hyper... OMIM:264090
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Recurrent lower respiratory tract infections, Pulmonary embolism OMIM:226300
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, O... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, O... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, O... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, O... ORPHA:99226
Alström Syndrome
Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes mellitus, Oligozoosper... ORPHA:64
Liver Disease, Severe Congenital
Pneumonia, Failure to thrive, Increased circulating ferritin concentration, Hyperbilirubinemia, H... OMIM:619991
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Cog1-Cdg
Atrial septal dilatation, Pulmonary arterial hypertension ORPHA:263508
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:613355
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Congestive heart failure, Tr... ORPHA:3260
Yunis-Varon Syndrome
Cardiomyopathy, Aspiration pneumonia, Tetralogy of Fallot, Patent foramen ovale, Ventricular sept... OMIM:216340
Pmm2-Cdg
Insulin resistance, Hypoalbuminemia, Failure to thrive, Increased circulating prolactin concentra... ORPHA:79318
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome... ORPHA:447
Leukocyte Adhesion Deficiency
Pneumonia, Respiratory tract infection, Lymphocytic interstitial pneumonia, Hyperinsulinemic hypo... ORPHA:2968
Keppen-Lubinsky Syndrome
Recurrent pneumonia, Failure to thrive, Decreased serum leptin OMIM:614098
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Intracranial hemorrhage, Hype... ORPHA:394
Overhydrated Hereditary Stomatocytosis
Pulmonary embolism OMIM:185000
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Proteus Syndrome
Pulmonary cyst, Long penis, Pulmonary embolism, Bronchogenic cyst, Decreased muscle mass, Abnorma... ORPHA:744
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism ORPHA:3205
Dehydrated Hereditary Stomatocytosis
Pulmonary venous hypertension ORPHA:3202

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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cavin1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cavin1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cavin1em1(IMPC)Bay Intra-exon deletion Mice
Cavin1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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