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Gene: Eln MGI:95317

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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:
elastin
Synonyms:
E030024M20Rik,  tropoelastin

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 Eln 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 predicted to be associated to Eln by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Hypertension, Hypercholesterolemia, Premature coronary ... OMIM:608320
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Myocardial infarction, Premature coronary artery atheros... OMIM:604091
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... OMIM:610947
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissect... ORPHA:229
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Dilation of Virchow-Robin spaces, Transient ischemic attack, Lacunar stroke, Hypertension, Stroke OMIM:616779
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Arterial stenosis, Cerebral artery atherosclerosis, Hypertensio... ORPHA:1192
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Myocardial infarction, Cardiomegaly, Carotid artery calcification,... OMIM:208000
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia OMIM:265150
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Diabetes mellitus, Subarachnoid hemorrhage,... ORPHA:36382
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Takayasu Arteritis
Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial... ORPHA:3287
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Fibromuscular Dysplasia, Arterial
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... OMIM:135580
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Hyperuricemia, Arrhythmia ORPHA:3222
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Cardiomegaly, Cong... OMIM:614473
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... OMIM:618620
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Raynaud phenomenon, Hypertension, Stroke, Moyamoya phenomenon ORPHA:401945
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Decreased circulating... OMIM:203400
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... ORPHA:556037
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Hypertension, Coronary artery atherosclerosis ORPHA:79084
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... OMIM:177735
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis, Hyp... OMIM:615779
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Splenomegaly, Hy... ORPHA:90041
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... ORPHA:556030
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cerebral berry aneurysm OMIM:210050
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ... OMIM:610600
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Heart Defects-Limb Shortening Syndrome
Abnormality of the pulmonary artery ORPHA:1354
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Sarcoidosis, Susceptibility To, 2
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... OMIM:612387
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Respiratory insufficiency, Abnormal aortic ... ORPHA:1166
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... ORPHA:254361
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Insulin-resistant diabetes melli... OMIM:608600
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... OMIM:601612
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracrania... ORPHA:136
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Trimethylaminuria
Splenomegaly, Hypertension, Tachycardia OMIM:602079
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Stroke-like episode,... OMIM:540000
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, T... ORPHA:494424
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618126
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... ORPHA:231625
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... ORPHA:860
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Liddle Syndrome 1
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:177200
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:218030
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Stroke, Abnormality of circulating cortisol level, Left ventricular hy... ORPHA:320
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Adrenal insufficiency, Increase... ORPHA:427
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh... ORPHA:171876
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Congenital diaphragmatic hernia, Ascending tubular aorta aneury... OMIM:219100
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... OMIM:300539
Hypoalphalipoproteinemia, Primary, 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618463
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Sitosterolemia 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618666
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Coarctation of aorta OMIM:616069
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration OMIM:161900
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Premature coronar... ORPHA:140905
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... OMIM:614492
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil... ORPHA:66529
Loeys-Dietz Syndrome 4
Torticollis, Arterial tortuosity, Pneumothorax, Ascending tubular aorta aneurysm, Aortic root ane... OMIM:614816
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Moyamoya phenomenon OMIM:615750
Fibronectin Glomerulopathy
Hypertension, Hypoalbuminemia, Cerebral hemorrhage ORPHA:84090
Maternally-Inherited Diabetes And Deafness
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... ORPHA:225
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Vasculitis in the skin OMIM:620321
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... ORPHA:228116
Dysbetalipoproteinemia
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mell... ORPHA:412
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Aortic Valve Disease 1
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... OMIM:109730
Acute Adrenal Insufficiency
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypercalcemia, Myoca... ORPHA:95409
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium OMIM:613759
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... OMIM:264800
Polycystic Kidney Disease 5
Hypertension, Enlarged kidney, Hepatosplenomegaly OMIM:617610
Lipodystrophy, Familial Partial, Type 4
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Stroke OMIM:613877
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre... ORPHA:231632
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Primary Membranoproliferative Glomerulonephritis
Hypertension, Hypoalbuminemia, Myocardial infarction ORPHA:54370
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... ORPHA:90791
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Coproporphyria, Hereditary
Splenomegaly, Hypertension, Tachycardia, Hepatomegaly OMIM:121300
Lessel-Kubisch Syndrome
Hypertension, Hypogonadism OMIM:618681
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... ORPHA:2041
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Hypokalemia, Hyperaldosteronism, Decreased circulating renin l... OMIM:613677
Liddle Syndrome
Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia ORPHA:526
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar... OMIM:208060
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... OMIM:300845
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Lmna-Related Cardiocutaneous Progeria Syndrome
Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesion, Emphysema, Abnormal... ORPHA:363618
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Erythrocytosis, Familial, 1
Splenomegaly, Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation, Cerebral berry aneurysm, Mitral valve prolapse OMIM:173900
Sneddon Syndrome
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke OMIM:182410
Hyperaldosteronism, Familial, Type Iv
Hypertension, Hyperaldosteronism OMIM:617027
Fadd-Related Immunodeficiency
Pulmonary artery atresia ORPHA:306550
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr... OMIM:612422
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Abnormal aortic morpho... ORPHA:1926
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Dilatation of the cerebral artery OMIM:600666
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Descending aortic dissection, Bronchiectasis, Small thenar eminence, Ascending ... OMIM:620080
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio... ORPHA:90795
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia, Hyperaldosteronism OMIM:605635
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio... ORPHA:90065
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Hyperten... OMIM:615238
Preeclampsia
Elevated circulating creatinine concentration, Elevated diastolic blood pressure, Hypertension, E... ORPHA:275555
Hereditary Arterial And Articular Multiple Calcification Syndrome
Coronary artery calcification, Arterial tortuosity, Abnormal vascular morphology, Arterial occlus... ORPHA:289601
Bartter Syndrome, Type 3
Hyperchloriduria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating... OMIM:607364
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Congestive heart failur... ORPHA:79083
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Emphysema, Small vessel vasculitis, Restrictive ventilatory defect, Cough, Pleural effus... ORPHA:36412
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia OMIM:612780
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Pulmonary embolism, Venous insufficiency, Patent ductus arterio... ORPHA:90308
Amyloidosis, Familial Visceral
Splenomegaly, Hypertension, Hepatomegaly OMIM:105200
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hypertension,... ORPHA:280356
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... OMIM:176670
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Angina pectoris, Premature coronary artery atheroscleros... ORPHA:425
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Gitelman Syndrome
Prolonged QT interval, Hypomagnesemia, Ventricular tachycardia, Hypokalemia, Increased circulatin... OMIM:263800
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect OMIM:613870
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Potocki-Shaffer Syndrome
Hypertension, Hypothyroidism, Delayed puberty ORPHA:52022
Congenital Rubella Syndrome
Patent ductus arteriosus, Abnormality of the pulmonary artery ORPHA:290
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalize... OMIM:614437
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Elevated circulating creatinine concentration OMIM:616733
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Centrally nucleated skeletal muscle fibers, Atelectasis, Myopathy, Neonatal... OMIM:300219
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Second degre... OMIM:617021
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm... ORPHA:3342
Grange Syndrome
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... OMIM:602531
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... ORPHA:289548
Pseudo-Torch Syndrome 3
Hypertension, Increased circulating ferritin concentration, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute... ORPHA:168558
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Mater... OMIM:604367
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Z-band streaming, Coar... OMIM:619178
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis OMIM:614432
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171420
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic... OMIM:613177
Familial Thrombocytosis
Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Syncope, Cerebral ischemia... ORPHA:71493
Scimitar Syndrome
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the di... ORPHA:185
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... ORPHA:90793
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertr... ORPHA:1349
Addison Disease
Hypoparathyroidism, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, ... ORPHA:85138
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertensi... OMIM:615980
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Abnormal internal carotid artery morphology, Flexion contracture, Lower lim... ORPHA:365
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Farber Disease
Respiratory distress, Skeletal muscle atrophy, CNS foam cells, Nodular pattern on pulmonary HRCT,... ORPHA:333
Polyarteritis Nodosa
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy... ORPHA:767
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Camptodactyly of finger ORPHA:896
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch... ORPHA:99050
Senior-Loken Syndrome
Hypertension ORPHA:3156
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... ORPHA:565612
De Barsy Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Patent ductus arteriosus, Hypoplastic ... ORPHA:2962
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171300
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm mo... ORPHA:2257
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Vasculitis, Bronchiectasis, Restrictive ventilatory ... ORPHA:1572
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... OMIM:601198
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... OMIM:620233
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... ORPHA:251992
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... OMIM:616166
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Dilatation of the ventricular cavity, Pneumothorax, Recurre... ORPHA:90349
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... OMIM:619632
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Pal... ORPHA:94080
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p... ORPHA:57777
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Fabry Disease
Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Goiter OMIM:231690
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Netherton Syndrome
Recurrent respiratory infections, Emphysema, Asthma ORPHA:634
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Elevated circulating creatinine concentration ORPHA:567544
Marfan Syndrome
Skeletal muscle atrophy, Spontaneous pneumothorax, Descending aortic dissection, Emphysema, Dilat... ORPHA:558
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Corticosteroid-Binding Globulin Deficiency
Hypertension, Decreased circulating cortisol level, Hypokalemia, Hypotension OMIM:611489
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... ORPHA:538
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... OMIM:614823
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... OMIM:615962
Neonatal Marfan Syndrome
Neonatal respiratory distress, Flexion contracture, Hypoxemia, Ascending tubular aorta aneurysm, ... ORPHA:284979
Seckel Syndrome 10
Ventricular hypertrophy, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevat... OMIM:617253
Dextrocardia
Abnormal lung lobation, Abnormality of the pulmonary artery, Congenital malformation of the great... ORPHA:1666
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteroni... ORPHA:89938
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Transaldolase Deficiency
Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Biventricular hypertrophy, Abnormal cir... ORPHA:101028
Autoimmune Hypoparathyroidism
Prolonged QT interval, Autoimmune hypoparathyroidism, Abnormal left ventricular function, Hypocal... ORPHA:36913
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Rhabdoid Tumor
Hypertension, Hypercalcemia, Internal hemorrhage ORPHA:69077
Heme Oxygenase 1 Deficiency
Hepatomegaly, Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveolar ... OMIM:614034
Nephronophthisis 2
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Hypertension... OMIM:602088
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Vascular dilatation, Cough ORPHA:2314
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Coach Syndrome 2
Hypertension, Elevated circulating creatinine concentration OMIM:619111
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:614496
Denys-Drash Syndrome
Hypertension ORPHA:220
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... OMIM:244400
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:2516
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... OMIM:605373
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atri... ORPHA:371428
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... OMIM:600142
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... ORPHA:77296
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Patent duct... OMIM:601005
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Pulmonary artery hypoplasia, Emphysema, Chronic ... OMIM:245150
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypergonadotropic hy... OMIM:203800
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Congestive heart failure, Splenomegaly, Hy... ORPHA:2348
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Splenomegaly, Atheroscler... ORPHA:79292
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Low-to-no... OMIM:601678
Heterotaxy, Visceral, 4, Autosomal
Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with... OMIM:613751
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly OMIM:613320
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery ORPHA:1131
Hypoplastic Left Heart Syndrome
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... ORPHA:2248
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Emphysema, Decreased muscle mass, Prominent veins on trunk ORPHA:357074
Ethanolaminosis
Cardiomegaly OMIM:227150
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... OMIM:613095
Riboflavin Transporter Deficiency
Hypertension, Hypogonadism, Diabetes insipidus ORPHA:97229
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve ORPHA:228190
East Syndrome
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Nephronophthisis 18
Hypertension OMIM:615862
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Stiff Skin Syndrome
Hypertension, Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:2833
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... ORPHA:2637
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra... ORPHA:258
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly ORPHA:363400
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Abnormal lung morphology, Abnorma... ORPHA:167635
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Hy... ORPHA:449291
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Mitral valve prolapse, Hypertension, Dilatation of... ORPHA:730
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati... ORPHA:980
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... OMIM:214700
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeate... ORPHA:536467
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenos... OMIM:208050
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Bronchiectasis, Coarctation of aorta, Bronchiolitis, Emphys... ORPHA:90348
Paroxysmal Hemicrania
Hypertension, Diabetes mellitus ORPHA:157835
Aortic Aneurysm, Familial Thoracic 12
Spontaneous pneumothorax, Chronic pulmonary obstruction, Ascending tubular aorta aneurysm, Aortic... OMIM:619825
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desquamative interstit... OMIM:265120
C3 Glomerulopathy
Hypertension, Elevated circulating creatinine concentration ORPHA:329918
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Hepat... OMIM:151660
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Marfan Syndrome
Decreased muscle mass, Emphysema, Pneumothorax, Flexion contracture, Ascending tubular aorta aneu... OMIM:154700
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart fa... OMIM:235200
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulm... ORPHA:1120
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... OMIM:241200
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... OMIM:615830
Cryoglobulinemia, Familial Mixed
Hypertension, Elevated circulating creatinine concentration OMIM:123550
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Patent ductus arteriosus, Alveola... OMIM:601186
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... OMIM:171400
Hadziselimovic Syndrome
Pulmonary artery atresia, Tetralogy of Fallot OMIM:612946
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... OMIM:300257
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Overlap Myositis
Diabetes mellitus, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Abnorm... ORPHA:206572
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertension, Stroke OMIM:603903
Tetanus
Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration ORPHA:3299
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp... OMIM:230800
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Pagod Syndrome
Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Abnormal aortic morphology, Pulmona... ORPHA:991
Pediatric-Onset Graves Disease
Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyro... ORPHA:525731
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mell... ORPHA:280365
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly OMIM:269920
Werner Syndrome
Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular morphology, Congest... ORPHA:902
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens... ORPHA:347
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve OMIM:604381
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte... ORPHA:56
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Coarctation of aorta OMIM:620210
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Nephroblastoma
Hypertension ORPHA:654
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventric... OMIM:259900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Elevated circu... ORPHA:247691
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... OMIM:219080
Livedoid Vasculopathy
Diabetes mellitus, Abnormal capillary morphology, Telangiectasia of the skin, Venous insufficienc... ORPHA:542643
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Hypertension, Delayed pubert... ORPHA:52
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart ... ORPHA:3426
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Congestive heart ... OMIM:212140
Sarcoidosis, Susceptibility To, 1
Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infiltr... OMIM:181000
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Abnormality of thyroid physiology, Congestive heart failure, Hyperlipi... ORPHA:1830
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Meacham Syndrome
Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Partial anomalous pulmonary venous ... OMIM:608978
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Camptodactyly of finger, Coarctation of aorta ORPHA:2876
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... ORPHA:276621
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... ORPHA:183
Leprechaunism
Hepatomegaly, Enlarged ovaries, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldos... ORPHA:508
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Stiff-Person Syndrome
Hypertension, Tachycardia, Diabetes mellitus OMIM:184850
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... ORPHA:363705
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Mercury Poisoning
Hypertension, Tachycardia, Hypokalemia, Hypotension ORPHA:330021
Ochoa Syndrome
Hypertension ORPHA:2704
Coach Syndrome 1
Hepatomegaly, Portal hypertension, Splenomegaly, Hypertension, Vascular dilatation OMIM:216360
Familial Pseudohyperkalemia
Hypertension, Hyperkalemia ORPHA:90044
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia OMIM:619064
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Hypercholesterolemia, Familial, 1
Tendon xanthomatosis, Coronary artery atherosclerosis OMIM:143890
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
14Q24.1Q24.3 Microdeletion Syndrome
Pulmonary artery atresia, Truncus arteriosus ORPHA:401935
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Elevated circulating thyroid-stimulating hormone concentration, Arteri... OMIM:242900
Acquired Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnorm... ORPHA:79086
Infant Botulism
Hyponatremia, Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Right Atrial Isomerism
Aortopulmonary collateral arteries, Abnormal lung lobation, Total anomalous pulmonary venous retu... OMIM:208530
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Decreased serum leptin, Right atrial enlarg... OMIM:614008
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot... OMIM:256550
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malformati... ORPHA:1556
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Short-Rib Thoracic Dysplasia 12
Atelectasis, Patent ductus arteriosus, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal ... OMIM:269860
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria... OMIM:619051
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis OMIM:209010
Igg4-Related Aortitis
Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascending tubular aorta aneury... ORPHA:449400
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature,... ORPHA:284227
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Emphysema, Arterial tortuosity, Patent ductus ar... OMIM:619472
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic ca... OMIM:614702
Nelson Syndrome
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... ORPHA:199244
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Transient isch... ORPHA:324
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture OMIM:619708
Noonan Syndrome With Multiple Lentigines
Aplasia/Hypoplasia of the abdominal wall musculature, Scapular winging, Abnormality of the pulmon... ORPHA:500
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Dilatation of t... OMIM:613658
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Increased level of propylene glycol in blood OMIM:215600
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... ORPHA:31204
Zygomycosis
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Retinal arterial occlusio... ORPHA:73263
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Left atrial enlargem... OMIM:300280
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema OMIM:616835
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemia, Renal artery ste... OMIM:617913
Heterotaxy, Visceral, 7, Autosomal
Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azygous conti... OMIM:616749
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... OMIM:266500
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Peripheral ar... ORPHA:217085
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic valve OMIM:618845
Monosomy 18P
Hypertension, Hypothyroidism ORPHA:1598
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension, Hypothyroidism OMIM:617763
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Peripheral ar... ORPHA:217093
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defec... OMIM:614921
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Portal hypertension, Pericardial effusion, Hepatosplenomegaly, Hypert... OMIM:619487
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
Congenital Tracheal Stenosis
Respiratory distress, Ascending aorta hypoplasia, Neonatal asphyxia, Patent ductus arteriosus, Ab... ORPHA:141127
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... ORPHA:29072
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect OMIM:614424
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Hypertension, Increased blood urea nitrogen, Delayed puberty, Enlarged kidney ORPHA:251004
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Ad... ORPHA:892
Bardet-Biedl Syndrome
Hypertension, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Birk-Landau-Perez Syndrome
Hypertension, Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Meier-Gorlin Syndrome 1
Respiratory distress, Flexion contracture, Camptodactyly, Emphysema, Joint contracture of the hand OMIM:224690
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Meacham Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulm... ORPHA:3097
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Galloway-Mowat Syndrome 3
Hypertension, Hypoalbuminemia, Coarctation of aorta OMIM:617729
Relapsing Polychondritis
Atelectasis, Dyspnea, Large vessel vasculitis, Cough, Abnormal pattern of respiration, Vascular d... ORPHA:728
Atypical Werner Syndrome
Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Premature arteriosclerosis, Abno... ORPHA:79474
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli... ORPHA:85450
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Pheochromocytoma, Adrenocortical adenoma,... ORPHA:139411
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonary arter... OMIM:618316
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein... OMIM:615688
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Pulmonary venous occlusion, Elevated circulating cre... ORPHA:2260
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hyp... ORPHA:465508
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis ORPHA:319213
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Ab... ORPHA:565
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema ORPHA:289
Methylcobalamin Deficiency Type Cble
Hypertension, Hypomethioninemia, Hyperhomocystinemia ORPHA:2169
Lcat Deficiency
Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:650
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden cardiac death, Cardiomeg... OMIM:201475
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Diaphragmatic Hernia 4, With Cardiovascular Defects
Neonatal respiratory distress, Diaphragmatic eventration, Aortopulmonary collateral arteries, Aor... OMIM:620025
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Aortic root aneurysm, Mitral valve prolapse OMIM:616914
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens... ORPHA:394
Alport Syndrome
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Sitosterolemia 1
Hyperapobetalipoproteinemia, Carotid artery stenosis, Elevated circulating sitosterol concentrati... OMIM:210250
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Palpitations, Atrial septal defect, Mitral sten... ORPHA:2847
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion OMIM:306400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Gastrocutaneous Syndrome
Coronary artery atherosclerosis ORPHA:2069
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Senior-Boichis Syndrome
Portal hypertension, Hepatosplenomegaly, Carotid artery dilatation, Hypertension, Increased total... ORPHA:84081
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Adrenal calcification, Bone-marrow foam... ORPHA:275761
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Seckel Syndrome 9
Recurrent respiratory infections, Pulmonary artery hypoplasia, Asthma, Congenital diaphragmatic h... OMIM:616777
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea... OMIM:235400
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension ORPHA:134
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... OMIM:115310
Singleton-Merten Syndrome 2
Aortic valve calcification, Arrhythmia, Aortic valve stenosis OMIM:616298
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension OMIM:619758
Velocardiofacial Syndrome
Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Tetra... OMIM:192430
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis OMIM:618000
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... OMIM:175050
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Absent pulmonary artery, Tetralogy of Fallot, Coarctation of aorta OMIM:600460
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital p... OMIM:611812
22Q11.2 Deletion Syndrome
Retinal arteriolar tortuosity, Atelectasis, Patent ductus arteriosus, Asthma, Abnormal lung lobat... ORPHA:567
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, C... OMIM:617713
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Left ventricular hypertrop... ORPHA:31150
Nephronophthisis 1
Hypertension OMIM:256100
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Porphyria Variegata
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Inappropri... ORPHA:79473
Williams Syndrome
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Abnormal cerebral vasc... ORPHA:904
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculitis, Hypertensi... ORPHA:1855
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Kallmann Syndrome-Heart Disease Syndrome
Right aortic arch, Pulmonary artery hypoplasia, Double outlet right ventricle, Anomalous origin o... ORPHA:2326
Postinfectious Vasculitis
Cerebral vasculitis, Abnormal circulating protein concentration, Elevated circulating C-reactive ... ORPHA:48435
Heterotaxy, Visceral, 6, Autosomal
Right aortic arch, Double outlet right ventricle, Total anomalous pulmonary venous return, Transp... OMIM:614779
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi... ORPHA:220393
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Hypokalemia, Increased circulating ACTH level, Pituitary adenoma OMIM:219090
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Prominent veins on trunk, Emphysema, A... ORPHA:2834
Glycogen Storage Disease Ia
Hepatomegaly, Hyperlipidemia, Hypertension, Hyperuricemia, Delayed puberty, Enlarged kidney OMIM:232200
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Abnormal ao... ORPHA:251071
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Hypertension, Enlarged kidney OMIM:263200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hyperammonemia, Hypertension, Arrhythmia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614052
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Hypothyroidism, Transient hyperphenylalaninemia ORPHA:98808
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Neurofibromatosis Type 1
Abnormality of the endocrine system, Precocious puberty, Arterial stenosis, Hypertension, Pheochr... ORPHA:636
Low Phospholipid-Associated Cholelithiasis
Hypertension, Diabetes mellitus, Hypercholesterolemia ORPHA:69663
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Adren... ORPHA:51608
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Elevated circulating creatinine concentration, Hyperuricemia, Hypotension OMIM:174000
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature ORPHA:33001
Digeorge Syndrome
Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Chronic pulmonary obstruction, Asthma... OMIM:188400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis ORPHA:209902
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... ORPHA:31826
Caudal Regression Syndrome
Hypertension, Maternal diabetes ORPHA:3027
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Telangiectasia ... ORPHA:286
Sarcoidosis
Facial palsy, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Pneumothorax, Bronch... ORPHA:797
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Elevated circulating creatinine concentration, Hyperk... ORPHA:340
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Patent ductus arteriosus, Coarctation of aorta, Pulmonary artery a... OMIM:618164
Glycogen Storage Disease Ib
Hepatomegaly, Splenomegaly, Hyperlipidemia, Hypertension, Hyperuricemia, Delayed puberty, Enlarge... OMIM:232220
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly ORPHA:99931
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis OMIM:619149
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Congenital lobar overinflation, Coarctation of aorta OMIM:600987
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Transient ischemic attack, Patent ductus arteriosus after birth at term... ORPHA:500150
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... ORPHA:268
Renal Hypoplasia, Bilateral
Hyponatremia, Hypertension, Hyperkalemia ORPHA:97362
Hardikar Syndrome
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Portal hyp... OMIM:301068
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Pulmonary artery hypoplasia, Camptodactyly of finger, Camptodactyly OMIM:300963
Hurler Syndrome
Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Hyp... ORPHA:93473
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism ORPHA:567546
Telangiectasia, Hereditary Hemorrhagic, Type 4
Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmonary arteriovenous malformation... OMIM:610655
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of the m... OMIM:268800
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Tetralogy of Fallot, H... ORPHA:210122
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Lead Poisoning
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertension, D... ORPHA:330015
Aminopterin/Methotrexate Embryofetopathy
Pulmonary artery atresia, Tetralogy of Fallot ORPHA:1908
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hematemesis, Increased circulating ferritin concentration, Pericardial effusion, Va... OMIM:615846
Renal Agenesis
Hypertension, Ventricular septal defect ORPHA:411709
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypertension, Hypophosphatemia OMIM:104200
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... ORPHA:555877
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy OMIM:252920
Familial Dysautonomia
Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Glycogen Storage Disease Ic
Hepatomegaly, Spider hemangioma, Hyperlipidemia, Hypertension, Hyperuricemia, Delayed puberty, Pu... OMIM:232240
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Aort... ORPHA:805
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... ORPHA:740
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... OMIM:611962
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... ORPHA:284169
Xfe Progeroid Syndrome
Hypertension, Hypoalbuminemia OMIM:610965
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aorta OMIM:300514
Wagro Syndrome
Hypertension OMIM:612469
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Chand Syndrome
Atelectasis ORPHA:1401
Renal Hypoplasia
Hypertension ORPHA:93101
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Hypertension OMIM:301050
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Dex... OMIM:270100
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypothyroidism, Hypotension ORPHA:93256
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... OMIM:201750
Neurofibromatosis, Type I
Parathyroid adenoma, Hypertension, Pheochromocytoma, Renal artery stenosis OMIM:162200
Giant Cell Arteritis
Epistaxis, Abnormal pleura morphology, Cough, Recurrent pharyngitis, Vasculitis, Aortic dissectio... ORPHA:397
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:608836
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... OMIM:602782
Mosaic Trisomy 1
Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Coarctation ... ORPHA:1692
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal respiratory distress, Diastasis recti, Pulmonary artery stenosis, Hypoplastic aortic arc... OMIM:265380
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, Congenital diaphragmatic hernia, Coarctation of aorta, Aortic root aneur... OMIM:617602
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Classical-Like Ehlers-Danlos Syndrome Type 2
Diabetes mellitus, Hypertriglyceridemia, Carotid artery stenosis, Pericardial effusion, Prominent... ORPHA:536532
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Stroke-like e... OMIM:105210
Adams-Oliver Syndrome
Pulmonary artery atresia, Pulmonary arterial hypertension, Tetralogy of Fallot, Arteriovenous mal... ORPHA:974
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... ORPHA:90038
Cockayne Syndrome Type 1
Hepatomegaly, Hypertension, Male hypogonadism, Increased blood urea nitrogen ORPHA:90321
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Precocious puberty, Reno... ORPHA:97685
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elev... ORPHA:228308
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Decreased serum iron, Hypertension, Stroke, Budd-Chiar... ORPHA:447
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decrea... OMIM:615947
Alexander Disease
Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypertension, Hypotension, Hypothyro... ORPHA:58
Noonan Syndrome 9
Coarctation of aorta OMIM:616559
Von Hippel-Lindau Syndrome
Hypertension, Pheochromocytoma, Paraganglioma OMIM:193300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Arthrogryposis multiplex congenita, Double outlet right ventricle OMIM:301056
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Hypertension, Hypogonadism, Left ventricular h... OMIM:209900
Fryns Syndrome
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Abnormal aortic morphology, Pul... ORPHA:2059
Blau Syndrome
Pericarditis, Splenomegaly, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertensio... ORPHA:90340
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly ORPHA:391428
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilate... OMIM:619573
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... OMIM:619329
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:79443
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Patent ductus arteriosus OMIM:620113
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Posterior Urethral Valve
Hypertension ORPHA:93110
Papillorenal Syndrome
Hypertension, Elevated circulating creatinine concentration OMIM:120330
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly OMIM:619259
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:139210
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hyperammonemia, Coarctation of aorta... OMIM:220111
Acute Intermittent Porphyria
Hyponatremia, Hypertension, Tachycardia ORPHA:79276
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy ORPHA:158687
Mosaic Trisomy 16
Patent ductus arteriosus, Abnormal lung morphology, Coarctation of aorta, Pulmonary hypoplasia, S... ORPHA:1708
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve OMIM:615009
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Oculocerebrorenal Syndrome Of Lowe
Atelectasis, Recurrent respiratory infections, Respiratory insufficiency ORPHA:534
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Air... ORPHA:99106
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Thyroiditis, Hypertension, Pulmona... ORPHA:79259
Familial Osteodysplasia, Anderson Type
Hypertension, Hyperuricemia ORPHA:2769
Myhre Syndrome
Precocious puberty, Hypertension, Abnormal cardiac septum morphology, Hypogonadism ORPHA:2588
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:500159
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Au-Kline Syndrome
Hypertension, Aortic root aneurysm OMIM:616580
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Denys-Drash Syndrome
Hypertension, Enlarged kidney OMIM:194080
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal... OMIM:620306
Apert Syndrome
Hypertension ORPHA:87
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hypertension, Hyperbilirubinemia, Atrial se... OMIM:613610
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocard... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocard... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocard... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocard... ORPHA:881
Sotos Syndrome
Hip contracture, Ankle flexion contracture, Small cell lung carcinoma, Patent ductus arteriosus, ... ORPHA:821
Pauci-Immune Glomerulonephritis
Dyspnea, Arteritis, Abnormality of the pulmonary vasculature, Cough, Small vessel vasculitis, Pul... ORPHA:93126
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Focal Dermal Hypoplasia
Diastasis recti, Congenital diaphragmatic hernia, Camptodactyly of finger, Patent ductus arterios... ORPHA:2092
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Cantú Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Spontaneous pneumothorax, Arterial tortuosity, Descending thoracic aorta an... OMIM:610168
Orofaciodigital Syndrome I
Hypertension, Vascular dilatation, Abnormal heart morphology OMIM:311200
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Cockayne Syndrome A
Hepatomegaly, Splenomegaly, Hypertension, Thymic hormone decreased, Hypogonadism, Arrhythmia, Per... OMIM:216400
2Q37 Microdeletion Syndrome
Tracheomalacia, Abnormal aortic morphology, Congenital diaphragmatic hernia ORPHA:1001
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Hypercalcemia, Thyroid C cell hyperplasia, Primary hyperparathyro... ORPHA:653
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Decreased circulating copper concentration, Subarachnoid h... ORPHA:139417
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Scalp-Ear-Nipple Syndrome
Type I diabetes mellitus, Hypertension ORPHA:2036
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Pulmonary arteriovenous malformation, Hypertension... OMIM:606721
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Hypertens... ORPHA:544482
Marshall-Smith Syndrome
Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contraction, Hypertens... OMIM:602535
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Precocious puberty, Splenomegaly, Patent ductus arterios... OMIM:270400
Noonan Syndrome 10
Left ventricular hypertrophy, Pleural effusion, Patent ductus arteriosus, Coarctation of aorta OMIM:616564
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root ... ORPHA:90324
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Bronchitis, Episodic respiratory distress... ORPHA:1199
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve ORPHA:329224
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cerebral arteriovenous malformation, Venous varicosities of celiac and mesenteric vessels, Gastro... OMIM:187300
Hallermann-Streiff Syndrome
Hypertension, Pulmonary arterial hypertension, Telangiectasia OMIM:234100
Mosaic Variegated Aneuploidy Syndrome
Apnea, Rhabdomyosarcoma, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic morphology... ORPHA:1052
Cockayne Syndrome
Hepatomegaly, Diabetes mellitus, Splenomegaly, Retinal hemorrhage, Absence of pubertal developmen... ORPHA:191
Williams-Beuren Syndrome
Diabetes mellitus, Bicuspid aortic valve, Hypercalcemia, Portal hypertension, Ventricular septal ... OMIM:194050
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... ORPHA:3472
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Stuve-Wiedemann Syndrome 1
Apnea, Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Respiratory insufficienc... OMIM:601559
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... ORPHA:1359
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... ORPHA:477817
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Progressive pulmonary function impairment, Ab... ORPHA:77293
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:314769
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... OMIM:609192
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... ORPHA:99889
Pierson Syndrome
Hypertension, Hypoproteinemia, Retinal hemorrhage OMIM:609049
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:963
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hyponatremia, Portal hypertension, Splenomegaly, Hepatosplenomegaly,... ORPHA:731
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia ORPHA:2203
Orofaciodigital Syndrome Type 1
Hypertension, Vascular dilatation ORPHA:2750
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom... OMIM:618838
Peters Plus Syndrome
Patent ductus arteriosus, Abnormal pulmonary vein morphology, Abnormality of the pulmonary artery ORPHA:709
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Cardiac myxoma, Congestive heart failure OMIM:181270
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Hypertension... OMIM:210710
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At... OMIM:121050
Unilateral Polymicrogyria
Epistaxis, Stroke, Apnea, Pulmonary arteriovenous malformation ORPHA:268943
Arima Syndrome
Hypertension, Hepatomegaly OMIM:243910
Cerebrotendinous Xanthomatosis
Precocious atherosclerosis, Abnormal lung morphology, Tendon xanthomatosis, Distal amyotrophy, Ab... ORPHA:909
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Aicardi-Goutières Syndrome
Diabetes mellitus, Cardiomegaly, Raynaud phenomenon, Calcification of the aorta, Aortic aneurysm,... ORPHA:51
Robinow Syndrome, Autosomal Dominant 3
Pulmonary artery atresia, Patent ductus arteriosus, Camptodactyly OMIM:616894
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Congestive heart failure, De... ORPHA:14
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Hypertension, Neonatal hyperbilirubinemia OMIM:300896
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Macroglossia, Patent ductus arteriosus OMIM:614609
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Aortic valve st... ORPHA:2306
Renal Dysplasia
Hypertension, Enlarged kidney ORPHA:93108
Cockayne Syndrome B
Splenomegaly, Hypertension, Arrhythmia, Hepatomegaly OMIM:133540
Squalene Synthase Deficiency
Bicuspid aortic valve OMIM:618156
Systemic Lupus Erythematosus
Raynaud phenomenon, Hypertension ORPHA:536
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Arteria lusoria, Left aortic arch with cervical origin of the right sub... OMIM:212093
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Thoracic aortic aneurysm, Subarachnoid hemorrhage, Arterial tortuosit... OMIM:613795
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ventricula... OMIM:300855
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Hypertension, Hepatosplenomegaly OMIM:266920
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Congestive... OMIM:252500
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Bicuspid aortic valve OMIM:619720
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Coarctation... ORPHA:2396
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Loeys-Dietz Syndrome
Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arteri... ORPHA:60030
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Holoprosencephaly
Congenital diaphragmatic hernia, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Abno... ORPHA:2162
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Liver Disease, Severe Congenital
Cardiomegaly, Abnormal left ventricular function, Hypocalcemia, Elevated hepatic iron concentrati... OMIM:619991
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Flexion contracture, Tetralogy of Fallot, Coarctation of aorta, Camptodac... ORPHA:261537
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... OMIM:245600
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Abnormal aortic morphology, Camptodactyly of finger, Tetralogy ... ORPHA:1507
Kleefstra Syndrome
Ventricular septal defect, Arrhythmia, Tetralogy of Fallot, Bicuspid aortic valve ORPHA:261494
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Patent ductus arteriosus, Flexion contracture, Tetralogy of Fallot, Coarc... ORPHA:261552
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis OMIM:610759
Igg4-Related Kidney Disease
Abnormal lung morphology, Interstitial pneumonitis, Abnormal aortic morphology, Arteritis, Pleuri... ORPHA:449395
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis OMIM:610443
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve ORPHA:96169
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti... ORPHA:581
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Mogs-Cdg
Atrial septal defect, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Inappropriate antidiuretic ... ORPHA:79330
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:130720
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyper... OMIM:130650
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... OMIM:182250
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:453499
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating... OMIM:256040
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Valvular pulmonary stenosis, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale OMIM:300707
Syndromic Diarrhea
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... ORPHA:84064
Fucosidosis
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Cardiomegaly OMIM:230000
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:273395
Fucosidosis
Hepatomegaly, Hypothyroidism, Cardiomegaly ORPHA:349
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly ORPHA:97297
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrial septal defect, Hypertension, Corneal neovascularization OMIM:308205
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perim... ORPHA:508498
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve OMIM:176690
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Bicuspid aortic valve, Mitral regurgitation OMIM:613563
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Juvenile Polyposis Syndrome
Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistaxis, Pulmonary arteriovenous m... ORPHA:2929
Fanconi Anemia
Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... ORPHA:84
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... ORPHA:536545
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentration, Ca... ORPHA:116
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Charge Syndrome
Overriding aorta, Facial palsy, Patent ductus arteriosus, Right aortic arch, Pulmonary artery atr... OMIM:214800
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis OMIM:617137
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363958
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Bicuspid aortic valve OMIM:271640
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:352665
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... ORPHA:353281
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,... OMIM:619475
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:613355
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Recurrent respiratory infections, Patent ductus arteriosus, Asthma, ... OMIM:619534
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve ORPHA:1772
Fontaine Progeroid Syndrome
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Abnormal heart morphology, ... OMIM:612289
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous v... OMIM:612474
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... ORPHA:353277
Cranioectodermal Dysplasia 1
Bicuspid aortic valve OMIM:218330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... ORPHA:438213
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo... OMIM:607872
Trichorhinophalangeal Syndrome, Type Ii
Partial anomalous pulmonary venous return, Bicuspid aortic valve, Myocardial infarction, Right ve... OMIM:150230
Mowat-Wilson Syndrome
Bicuspid aortic valve, Abnormal heart morphology, Abnormal cardiac septum morphology, Pulmonic st... ORPHA:2152
Microphthalmia, Syndromic 1
Bicuspid aortic valve OMIM:309800

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 Eln

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 Eln.

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

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MGI Allele Allele Type Produced
Elntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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