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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
Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin resistance, Hyper... ORPHA:528
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin resistance, Rec... OMIM:613327

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... OMIM:615703
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... OMIM:232700
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... ORPHA:71529
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... OMIM:265450
Cardiomyopathy, Dilated, 2C
Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch... OMIM:618189
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... ORPHA:324575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Lacticaciduria, Cardiomyop... OMIM:619003
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia ORPHA:436182
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Neutral Lipid Storage Disease With Myopathy
Diabetes mellitus, Elevated circulating creatine kinase concentration, Difficulty walking, Hypert... OMIM:610717
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, ... OMIM:619751
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... ORPHA:280356
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin-resistant diabetes mel... ORPHA:2457
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... OMIM:604367
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmona... OMIM:612387
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, In... ORPHA:79085
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... OMIM:615980
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia OMIM:612526
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... ORPHA:2414
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... ORPHA:35878
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula... ORPHA:2041
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Multiple Symmetric Lipomatosis
Insulin resistance, Gait disturbance ORPHA:2398
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis,... OMIM:615238
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Right ventricular hypertrophy, Pulmonary art... OMIM:265400
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia ORPHA:363400
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Recurrent respiratory infections, Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... ORPHA:1227
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased adiponectin l... ORPHA:435660
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Lethargy, Failure t... ORPHA:2089
Lipoyltransferase 1 Deficiency
Death in infancy, Lacticaciduria, Alaninuria, Bradycardia, Pulmonary arterial hypertension, Hyper... OMIM:616299
Limited Cutaneous Systemic Sclerosis
Foot joint contracture, Telangiectasia of the skin, Pulmonary fibrosis, Pulmonary arterial hypert... ORPHA:220402
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate... ORPHA:70588
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia OMIM:615924
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Recurrent respiratory infections, Hypertriglyceridemia, ... OMIM:607616
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypopla... ORPHA:185
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Ventricula... OMIM:601005
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Dyspnea, Nephropathy, Bronchiectasis... ORPHA:662
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, Pulmonary arterial hypertension OMIM:619064
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Increa... ORPHA:79237
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Myopathy, 3-Methylglutaconic aci... OMIM:212350
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Pneumonia, Increas... ORPHA:26793
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return, Pulmonar... OMIM:106700
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Decreased adiponectin level, Decreased... ORPHA:435651
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... ORPHA:263455
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin resistance, Hyper... ORPHA:528
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... ORPHA:275766
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Hypertriglyceridemia, Transient Infantile
Failure to thrive, Hypertriglyceridemia OMIM:614480
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Miscarriage, Pulmonary embolism ORPHA:82
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Failure to thrive, Hypoglycemia, Delayed puberty ORPHA:369
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Death in infancy, Alpha-aminoadipic aciduria, ... OMIM:605711
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Diabetes mellitus, Hypertriglyceridemia, Cryptorchidism, Insulin resistance, Male hypogonadism OMIM:615381
Braddock Syndrome
Congenital muscular torticollis, Neonatal respiratory distress, Unilateral renal agenesis, Pulmon... ORPHA:52047
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Pulmonary Arteriovenous Malformation
Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Hemothorax, Heart murmur, T... ORPHA:2038
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron... ORPHA:980
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Myo... ORPHA:81
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... OMIM:300887
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:3085
Hurler-Scheie Syndrome
Aortic regurgitation, Recurrent respiratory infections, Hepatomegaly, Camptodactyly of finger, Th... OMIM:607015
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Recurrent pneumonia, Obesit... OMIM:614962
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Hypertriglyceridemia, Bronchiectasis, Recurrent sin... OMIM:620282
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification ORPHA:75234
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal... OMIM:620233
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Myocardial infarction, Pulmonary embolism ORPHA:3325
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Recurrent upper respiratory t... OMIM:613101
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the kidney, Recurrent upper respiratory tract infections, Flexion contracture, Abn... ORPHA:391372
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contr... ORPHA:220393
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Ataxia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Adrena... OMIM:617575
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Dyspnea, Splenomegaly, Abnormal pulmonary interstitial morphology, Hyper... OMIM:230800
Seckel Syndrome 10
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating luteinizin... OMIM:617253
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Pparg-Related Familial Partial Lipodystrophy
Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Insulin-resistant diabetes mellitus, ... ORPHA:79083
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Overlap Myositis
Proximal muscle weakness in upper limbs, Abnormality of the kidney, Raynaud phenomenon, Perifasci... ORPHA:206572
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema... ORPHA:199241
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... ORPHA:98915
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Hypoalbuminemia, Hypopituitaris... OMIM:619013
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Atrial sep... ORPHA:209905
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Griscelli Syndrome Type 1
Hyperlipidemia, Ataxia ORPHA:79476
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocarditis, Nephropathy, Dysp... ORPHA:809
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... ORPHA:79086
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia, Recurrent respiratory infections OMIM:300635
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Death in adolescence OMIM:619059
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Left-to-right shunt, Ventricular septal d... ORPHA:99050
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Cardiomegaly, Tachypnea, Hypertension, Death in childhood, Pulmonary arterial h... OMIM:613320
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insufficiency, Typ... OMIM:613845
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Diabetes mellitus, Hypertriglyceridemia ORPHA:2348
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... OMIM:615474
Fanconi-Bickel Syndrome
Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... ORPHA:2088
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... OMIM:615558
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Respiratory insufficiency, Hematuria, Hypertension, ... OMIM:617021
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Flexion contracture, Pulm... OMIM:608149
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... OMIM:615343
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Tachypnea, Methylmalonic aciduria, Atrial septal defect, Pulmonary arterial hyper... OMIM:614857
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... OMIM:265380
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Obesity, Increa... ORPHA:412
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra... ORPHA:258
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia ORPHA:2849
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Hepato... ORPHA:75249
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hypoglycemia, Transient hyperlipidemia ORPHA:156
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... ORPHA:369929
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... OMIM:277460
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Abnormality of the kidne... ORPHA:90291
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Hyperammonemia, Transient hyperlipidemia, Let... OMIM:255120
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury... ORPHA:228116
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin resistance, Rec... OMIM:613327
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu... ORPHA:73272
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Bicuspid aortic ... ORPHA:363705
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Hypospadias, Bradycardia, Pulmonary arterial hyper... OMIM:619272
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Diabetes mellitus, Ataxia, Cryptorchidism, Insulin resistance, Dysmetria, Trunc... OMIM:616541
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Atrial septal defect, Patent foramen ovale, Tricuspid ... ORPHA:505248
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Urinary incontinence, Congestive heart failure, Respiratory ... OMIM:616482
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased p... ORPHA:70591
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Sup... ORPHA:97214
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Pericardial effusion, Abnormal myocardium morphology, Splenomegaly, Ab... ORPHA:77259
Placental Insufficiency
Insulin resistance, Abnormal lung morphology, Small for gestational age ORPHA:439167
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ... ORPHA:210122
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
Nephrotic Syndrome, Type 1
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Cryptorchidism, ... ORPHA:91
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea... OMIM:614921
Familial Chylomicronemia Syndrome
Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concen... ORPHA:444490
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Cryptorchidism, Atrial septal defect, Pulmonary ... ORPHA:2519
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Aplasia/Hypopla... ORPHA:3309
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Proteinuria, Minimal change glomerulonephritis, Congestive heart failu... ORPHA:1830
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cryptorchidism, Insulin resistance, Recurrent pneumonia, Failure to th... OMIM:214150
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Cor triatriat... OMIM:612541
Werner Syndrome
Diabetes mellitus, Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Schimke Immunoosseous Dysplasia
Renal insufficiency, Transient ischemic attack, Proteinuria, Bilateral cryptorchidism, Dyspnea, S... OMIM:242900
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypoperistalsis, Cryptorchidism, Tachypnea, Hypertension, Atrial septal defect, Pulmonary arteria... OMIM:613834
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating growth hormone conc... ORPHA:90301
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Recurrent pneumonia, Atrial septal defect, Pulmonary arte... OMIM:616449
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin-resistant diabet... ORPHA:769
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia ORPHA:199276
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Obesity,... ORPHA:98855
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hype... OMIM:248370
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Decreased adipo... ORPHA:280365
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hypoglycemia OMIM:602579
Gaucher Disease Type 3
Recurrent respiratory infections, Hepatomegaly, Mitral valve calcification, Proteinuria, Abnormal... ORPHA:77261
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Pulmonary Hypertension, Primary, 2
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... OMIM:615342
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Ataxia, Elevated circulati... ORPHA:300373
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration, Abnormal lung m... ORPHA:439232
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... ORPHA:453533
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Unilateral cryptorchidism ORPHA:447980
Familial Thrombocytosis
Miscarriage, Transient ischemic attack, Splenomegaly, Syncope, Cerebral ischemia, Pulmonary arter... ORPHA:71493
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Gait disturbance... ORPHA:819
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Delayed puberty ORPHA:90154
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Respiratory tract infection, Hypoalbuminemia, Hypercholesterolemia, Abnorma... ORPHA:567548
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Obesity,... ORPHA:98863
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Hepatomegaly, Crackles, Respiratory tract infection, Raynaud phenomenon... ORPHA:79128
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancreatic islet-cell hyperplasia... OMIM:246200
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Obesity,... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Obesity,... ORPHA:98853
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl... OMIM:307030
Spastic Paraplegia Type 2
Recurrent respiratory infections, Spastic/hyperactive bladder, Pulmonary embolism ORPHA:99015
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... OMIM:602782
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Increased L... OMIM:278000
Rett Syndrome
Increased serum pyruvate, Inability to walk, Hyperammonemia, Bradykinesia, Gait disturbance, Incr... ORPHA:778
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Anuria, Megacystis, Pyelonephritis, Bidirecti... OMIM:619351
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Increased DLCO, Hematur... ORPHA:90060
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Dyspnea, Splenomegaly, Emphysema, Bronchiectasis, Abnormal pu... OMIM:181000
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Recurrent upper respiratory tract... OMIM:253200
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia OMIM:603471
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased... ORPHA:264580
Whipple Disease
Hyponatremia, Ataxia, Cachexia, Insulin resistance, Pleuritis, Hypothyroidism ORPHA:3452
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Respirat... ORPHA:90308
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, I... ORPHA:79240
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Pulmonary ... ORPHA:974
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Spontaneous pneumothorax, Pulmonary arterioveno... OMIM:606721
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Hypospadias, Ventricular septal defect, Cryptorchidism, Double ... ORPHA:163956
Short Syndrome
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol... OMIM:269880
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Patent foramen ovale, Hypertrophy of the urinary bladder, Unilateral renal dysplasia... ORPHA:280633
H Syndrome
Hypertriglyceridemia, Diabetes mellitus, Recurrent pharyngitis, Bronchiectasis, Azoospermia, Hypo... ORPHA:168569
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine OMIM:215600
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Weakness of facial musculat... OMIM:254940
Melas
Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Nephropathy, Dilated... ORPHA:550
Beta-Thalassemia Intermedia
Hepatomegaly, High-output congestive heart failure, Splenomegaly, Hepatosplenomegaly, Proximal tu... ORPHA:231222
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, My... ORPHA:221
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resist... OMIM:608594
Fg Syndrome Type 1
Hypospadias, Progressive flexion contractures, Cryptorchidism, Mitral valve prolapse, Atrial sept... ORPHA:93932
Werner Syndrome
Insulin resistance, Pulmonary artery stenosis, Neoplasm of the lung, Hypogonadism, Thyroid carcin... ORPHA:902
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Diaphragmatic eventration, Ventricular septal defect... OMIM:620025
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Recurrent pneumonia, Male urethral meatus stenosis, Atria... ORPHA:464738
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Recurrent upper respiratory tr... OMIM:232240
Lymphatic Malformation 13
Atrial septal defect, Hydrocele testis, Mitral regurgitation, Neonatal death, Pulmonary arterial ... OMIM:620244
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin resistance, O... ORPHA:813
Chylomicron Retention Disease
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
19P13.12 Microdeletion Syndrome
Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesity, Hypothyroidism ORPHA:254346
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Hyperinsulinemia, Insulin-... OMIM:269700
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Ren... OMIM:618454
17Q23.1Q23.2 Microdeletion Syndrome
Dyspnea, Pulmonary arterial hypertension, Atrial septal defect, Congenital contracture ORPHA:261279
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circula... ORPHA:90041
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Hypospadias, Horseshoe kidney, Subvalvular aortic stenosis ORPHA:65286
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Glycogen Storage Disease Ia
Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglycemia, Delayed puberty OMIM:232200
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric... ORPHA:99827
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplasia of the thymus OMIM:619313
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia ORPHA:90153
Ogden Syndrome
Apnea, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardi... OMIM:300855
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb... OMIM:603553
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Pericardial effusion, Restrictive ventilatory d... ORPHA:2905
Bangstad Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Progressive cerebellar ataxia, Pr... OMIM:210740
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Respir... OMIM:601559
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Short Syndrome
Insulin resistance, Diabetes mellitus, Weight loss ORPHA:3163
15Q Overgrowth Syndrome
Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Ure... ORPHA:314585
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of the lung, Recurrent hypoglycemia,... ORPHA:2126
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Hypospadias, Cryptorchidism, Hypoxemia, Pulmonary arterial hype... ORPHA:2282
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg... OMIM:614185
Gaucher Disease
Death in infancy, Hepatomegaly, Mitral valve calcification, Proteinuria, Abnormal pericardium mor... ORPHA:355
Melnick-Needles Syndrome
Recurrent respiratory infections, Ureteral stenosis, Mitral valve prolapse, Stillbirth, Tricuspid... OMIM:309350
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Diabetes mellitus, Obesity, Pineal cyst, Abnormal circulating creatine kina... ORPHA:98908
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Schwartz-Jampel Syndrome
Death in infancy, Hip contracture, Skeletal muscle atrophy, Apnea, Shoulder flexion contracture, ... ORPHA:800
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia, Bronchiolitis obliterans orga... OMIM:619802
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolyt... ORPHA:79282
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Atypical Werner Syndrome
Decreased body weight, Diabetes mellitus, Hypertriglyceridemia, Failure to thrive, Abnormal circu... ORPHA:79474
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Dyspnea, Flexion contracture, Right bundle branch block, Hypertension, M... OMIM:614008
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Marshall-Smith Syndrome
Apnea, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Dysplastic aortic val... OMIM:602535
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Congestive heart failure, Recurrent upper respiratory tract infections, Functional abnormality of... ORPHA:391487
Leprechaunism
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, In... ORPHA:508
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Ataxia, Obesity, Abnormal circulating creatine kinase concentration, Diffic... ORPHA:98907
Bardet-Biedl Syndrome 1
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Insulin resistance, Obesity, Truncal o... OMIM:209900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228308
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... ORPHA:60025
Prader-Willi Syndrome
Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response to growth hor... OMIM:176270
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Gitelman Syndrome
Maternal diabetes, Hypomagnesemia, Insulin resistance, Hypermagnesemia, Diabetic ketoacidosis, Hy... ORPHA:358
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Portal hypertension, Cryptorchidism, Wheezing, Renal hypopla... OMIM:620005
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:600376
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... ORPHA:77293
Monosomy 13Q34
Insulin resistance, Hypercalcemia, Obesity ORPHA:96168
Fontaine Progeroid Syndrome
Death in infancy, Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Cryptorch... OMIM:612289
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Ventricular septal defect, Tracheomalacia, Congestive heart failure, Asthma, Horsesh... ORPHA:444077
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Flexion contracture, Stridor, Camptodactyly, Pulmonary arterial hypertension OMIM:620029
Glycogen Storage Disease Ib
Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty OMIM:232220
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Degcags Syndrome
Bilateral renal hypoplasia, Atrial septal defect, Diaphragmatic eventration, Patent foramen ovale... OMIM:619488
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Thyroiditis, Hypoglycemic seizures, Xanthelas... ORPHA:79259
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Respiratory tract infection, Pulmonary embolism, Dyspnea, Chro... ORPHA:567546
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Cryptorchidism, Recurrent pneumonia, Telangiectasia, Hypertensi... OMIM:234100
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Multiple pulmonary cysts, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Failu... OMIM:619418
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Neon... OMIM:619534
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration ORPHA:565612
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Pulmonary carcinoid tumor, Hypercholesterolemia, Emphysema, Abnormality of ... ORPHA:363618
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Diabetes mellitus, Hypertriglyceridemia ORPHA:536532
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Pneumonia, Bronchitis, Respiratory tract infection,... ORPHA:125
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Tetrasomy 9P
Renal dysplasia, Pericarditis, Recurrent urinary tract infections, Myositis, Dextrocardia, Raynau... ORPHA:3310
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size OMIM:610644
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Abnormal lung lobati... ORPHA:369837
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Primary adrenal insufficienc... ORPHA:275761
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Dysmetria OMIM:620185
Incontinentia Pigmenti
Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage... ORPHA:464
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splen... ORPHA:667
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Splenomegaly, Aortic valve calcific... ORPHA:2072
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrio... OMIM:619573
Chédiak-Higashi Syndrome
Hyponatremia, Recurrent respiratory infections, Hypertriglyceridemia, Ataxia, Increased circulati... ORPHA:167
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Miscarriage, Ventricular septal defect, Interphalangeal joint contracture of finger... ORPHA:96334
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hypertriglyceridemia OMIM:617591
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tolerance, Elevat... OMIM:256040
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Facial palsy, Hydrocele testis, Atrial septal defect, Pulmonary... OMIM:620186
Ctcf-Related Neurodevelopmental Disorder
Phimosis, Cryptorchidism, Mitral regurgitation, Joint contracture of the 5th finger, Atrial septa... ORPHA:363611
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Angin... ORPHA:740
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia ORPHA:158048
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Camptodactyly of finger, Dyspnea, Sp... ORPHA:90340
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Distal renal tubular acidosis, Proximal renal tubular acidosis, Nephrolithiasis, Re... ORPHA:2785
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa... ORPHA:567983
Yunis-Varon Syndrome
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Respiratory distress, Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Card... ORPHA:51608
Tenorio Syndrome
Recurrent pneumonia, Hypoglycemia, Hypoinsulinemia, Gait disturbance OMIM:616260
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal lung morphology, Renovascular hypertension... ORPHA:97685
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Atrial septal defect, Epidural ... OMIM:619472
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Aortic valve stenosis, Tricuspid valve prolapse ORPHA:2396
48,Xxxy Syndrome
Decreased testicular size, Recurrent respiratory infections, Hypoplasia of penis, Pulmonary embol... ORPHA:96263
49,Xxxxy Syndrome
Decreased testicular size, Recurrent respiratory infections, Hypoplasia of penis, Renal hypoplasi... ORPHA:96264
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Alagille Syndrome 1
Hypertriglyceridemia, Papillary thyroid carcinoma, Hypercholesterolemia, Failure to thrive, Perip... OMIM:118450
Fabry Disease
Hyperlipidemia, Delayed puberty, Emphysema, Abnormal circulating lipid concentration, Diabetes in... ORPHA:324
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism ORPHA:745
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Alström Syndrome
Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of ... ORPHA:64
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Recurrent lower respiratory tract infections, Budd-Chiari syndrome, Pulmonary embolism OMIM:226300
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Glomerulopathy, Renal insufficie... ORPHA:117
Neuroleptic Malignant Syndrome
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Myoglobinuria, Rhabdomyolysis... ORPHA:94093
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypertriglyceridemia, Small for gestational age, Pneumonia, Cry... OMIM:264090
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:3455
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism ORPHA:743
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt... ORPHA:3260
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99226
Liver Disease, Severe Congenital
Hyponatremia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Abnormal circulati... OMIM:619991
Cog1-Cdg
Pulmonary arterial hypertension, Atrial septal dilatation, Hepatosplenomegaly ORPHA:263508
Yunis-Varon Syndrome
Hypospadias, Ventricular septal defect, Cryptorchidism, Heart murmur, Cardiomyopathy, Aspiration ... OMIM:216340
Keppen-Lubinsky Syndrome
Failure to thrive, Recurrent pneumonia, Decreased serum leptin OMIM:614098
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:613355
Pmm2-Cdg
Hypogonadotropic hypogonadism, Ataxia, Elevated circulating growth hormone concentration, Reduced... ORPHA:79318
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Pulmonary embolism OMIM:185000
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Dys... ORPHA:447
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens... ORPHA:394
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Pneumonia, Respiratory tract infection, Bronchiectasis, Hyper... ORPHA:2968
Dehydrated Hereditary Stomatocytosis
Splenomegaly, Pulmonary venous hypertension ORPHA:3202
Proteus Syndrome
Decreased muscle mass, Sudden cardiac death, Pulmonary embolism, Testicular neoplasm, Splenomegal... ORPHA:744
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
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.

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
Cavin1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cavin1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cavin1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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