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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
Premature coronary artery atherosclerosis, Hypercholesterolemia, Hypertension, Myocardial infarct... OMIM:608320
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Coronary Artery Disease, Autosomal Dominant 2
Premature coronary artery atherosclerosis, Increased LDL cholesterol concentration, Type II diabe... OMIM:610947
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Myocardial in... OMIM:604091
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Left atrial enlargement, Increased ci... OMIM:620734
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Dilation of Virchow-Robin spaces, Transient ischemic attack, Stroke, Lacunar stroke, Hypertension OMIM:616779
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia OMIM:265150
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Congestive heart failure, Increased LDL cholesterol co... OMIM:615703
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Arterial stenosis, Cerebral artery atherosclerosis, Abnormal mitral val... ORPHA:1192
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:604765
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar... ORPHA:3287
Fibromuscular Dysplasia, Arterial
Aortic dissection, Intermittent claudication, Stroke, Renovascular hypertension, Arterial fibromu... OMIM:135580
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology, Hyperuricemia, Arrhythmia, Hypertension ORPHA:3222
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... ORPHA:3400
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cerebral berry aneurysm OMIM:210050
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Late-Onset Familial Hypoaldosteronism
Hypotension, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortis... ORPHA:556037
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Moyamoya phenomenon, Stroke, Raynaud phenomenon, Hypertension ORPHA:401945
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circu... OMIM:203400
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Coronary artery atherosclerosis, Hepatomegaly, Hypertension, Diabetes mellitus ORPHA:79084
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote... OMIM:177735
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia, Coronar... OMIM:618620
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Peripheral arterial stenosis, Retinal arteriolar constriction OMIM:124950
Early-Onset Familial Hypoaldosteronism
Hypotension, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortis... ORPHA:556030
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Heart Defects-Limb Shortening Syndrome
Abnormality of the pulmonary artery ORPHA:1354
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Gaisböck Syndrome
Elevated diastolic blood pressure, Increased circulating renin level, Hyperuricemia, Coronary art... ORPHA:90041
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Right ventricular hype... ORPHA:70589
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Atelectasis, Pulmonary fibrosis, Axial muscle atrophy, De... ORPHA:254361
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Coronary artery atherosclerosis, Prominent superficial veins... OMIM:608600
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of ... ORPHA:1166
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
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
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra... ORPHA:136
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Trimethylaminuria
Tachycardia, Hypertension, Splenomegaly OMIM:602079
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Facial palsy, Abnormal pulmonar... OMIM:612387
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Stroke-like episode, Arrhythmia, Left ventricular hypertrophy, Wolff-Pa... OMIM:540000
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension OMIM:617027
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Bilateral lung agenesis, Patent ductus arteriosus, Neonatal death OMIM:601612
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Familial Hypoaldosteronism
Hypotension, Adrenal insufficiency, Increased circulating renin level, Hyponatremia, Decreased ci... ORPHA:427
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Abnormal circulating aldosterone, Increased circulating renin level, Hyponatre... ORPHA:171876
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom... OMIM:103900
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Vascular tortuosity, Emphysema, Congenital diaphragmatic he... OMIM:219100
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Sitosterolemia 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618666
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis, Vasculitis in the skin OMIM:620321
Hypoalphalipoproteinemia, Primary, 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618463
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Tricuspid Atresia
Pulmonary artery atresia, Coarctation of aorta, Transposition of the great arteries, Persistent l... ORPHA:1209
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta, Hypertension OMIM:616069
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Moyamoya Disease 6 With Or Without Achalasia
Moyamoya phenomenon, Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:605115
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Premature coronary artery atheroscleros... ORPHA:140905
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Decreased response to growth hormone stimulation tes... ORPHA:280679
Fibronectin Glomerulopathy
Hypoalbuminemia, Hypertension, Cerebral hemorrhage ORPHA:84090
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Increased LDL cholesterol concentration, Type II diabetes mellitus, Str... OMIM:615812
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium OMIM:613759
Dysbetalipoproteinemia
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration, Aortic athero... ORPHA:412
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra... ORPHA:439232
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... OMIM:618780
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Acute Adrenal Insufficiency
Hypotension, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficie... ORPHA:95409
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormal cerebral vascular morphology, A... ORPHA:758
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertension, Hypertriglyceridemia ORPHA:71529
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Mitral regurgitation, Premature arteriosclerosis, Calcif... ORPHA:391665
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Polycystic Kidney Disease 5
Hepatosplenomegaly, Hypertension, Enlarged kidney OMIM:617610
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Emphysema, Dilatation of the cerebr... OMIM:614816
Lipodystrophy, Familial Partial, Type 4
Stroke, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... ORPHA:66529
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ... ORPHA:402075
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
Fadd-Related Immunodeficiency
Pulmonary artery atresia ORPHA:306550
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Lessel-Kubisch Syndrome
Hypogonadism, Hypertension OMIM:618681
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con... ORPHA:90791
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Liddle Syndrome
Hypokalemia, Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Tangier Disease
Atherosclerosis, Decreased HDL cholesterol concentration, Splenomegaly, Coronary artery atheroscl... OMIM:205400
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Arteriosclerosis, Severe Juvenile
Central retinal vessel vascular tortuosity, Calcification of the aorta, Delayed puberty, Arterios... OMIM:208060
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormalit... ORPHA:2357
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Emphysema, Aortic atherosclerotic lesion, Abnormality of the pulmonary arte... ORPHA:363618
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Hypertension, Splenomegaly OMIM:121300
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... OMIM:300845
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Erythrocytosis, Familial, 1
Splenomegaly, Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:618126
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula... ORPHA:231625
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Increased circulating prolactin concentration, Cardiomyopathy, Pituitary prola... OMIM:102200
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Familial Hyperaldosteronism Type I
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Dexamethasone-suppressible prim... ORPHA:403
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Descending aortic dissection, Small thenar eminence, Ascending... OMIM:620080
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating renin level, Stroke, Hypokalemia... ORPHA:320
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Hypertension, Mitral regurgitation, Mitral valve prolapse OMIM:173900
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Aplasia/Hyp... ORPHA:1926
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati... ORPHA:404
Methanol Poisoning
Type I diabetes mellitus, Inflammatory arteriopathy, Permanent atrial fibrillation, Type II diabe... ORPHA:31825
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Hypertension, Myocardial infarction ORPHA:54370
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Sneddon Syndrome
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Hypertension OMIM:182410
Meconium Aspiration Syndrome
Transient pulmonary infiltrates, Atelectasis, Aspiration pneumonia, Pneumothorax, Abnormal pulmon... ORPHA:70588
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventricular hypertr... ORPHA:251274
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hypertension OMIM:600666
Hypophosphatasia
Emphysema ORPHA:436
Liddle Syndrome 1
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:177200
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ... ORPHA:228116
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Primary Ciliary Dyskinesia
Atelectasis, Abnormal inferior vena cava morphology, Pulmonary situs ambiguus, Respiratory tract ... ORPHA:244
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:218030
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, Abnorma... ORPHA:90065
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Congestive heart failure, Angina pectoris, Precocious ... OMIM:176670
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypertension, Hypokalemia OMIM:605635
Bartter Syndrome, Type 3
Hypotension, Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyperactive renin-angiotensin sys... OMIM:607364
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hypertriglyceridemia, Hepatomegaly, Hypertension, Increased C-peptid... OMIM:615238
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Premature coronary artery atherosclerosis, Hypocholesterolemia, Decreased ci... OMIM:620058
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial occlusion, Abnormal vascular morphology, Arterial calcification, Arterial tortuosity, Ab... ORPHA:289601
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hypertension, Increased circulating renin level OMIM:612780
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin... ORPHA:2902
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure,... ORPHA:79083
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Increased lef... OMIM:620067
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Ground-glass opacification, Parenchymal consolidat... OMIM:610978
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Abnormal circulating aldosterone, Decreased circulating renin l... OMIM:300539
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertriglyceridemia, Abnormal circulating hormone concentration, Hypertension,... ORPHA:280356
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:145260
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification OMIM:114065
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Angin... OMIM:177850
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Amyloidosis, Hereditary Systemic 2
Hepatomegaly, Hypertension, Splenomegaly OMIM:105200
Gitelman Syndrome
Hypotension, Hypomagnesemia, Palpitations, Hypokalemia, Ventricular tachycardia, Delayed puberty,... OMIM:263800
Apolipoprotein A-I Deficiency
Premature coronary artery atherosclerosis, Abnormal circulating lipid concentration, Atherosclero... ORPHA:425
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema, Dilatation of the ventricul... ORPHA:90349
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... OMIM:613854
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte... OMIM:614492
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect, Tachycardia, Hypertension, Patent ductus arteriosus OMIM:613870
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Hypertension OMIM:603278
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Potocki-Shaffer Syndrome
Delayed puberty, Hypothyroidism, Hypertension ORPHA:52022
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Congenital Rubella Syndrome
Patent ductus arteriosus, Abnormality of the pulmonary artery ORPHA:290
Hypocomplementemic Urticarial Vasculitis
Emphysema, Pleural effusion, Small vessel vasculitis ORPHA:36412
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Patent ductus arteriosus, Abnormality of the pulmonary artery, ... ORPHA:90308
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Persistent left... OMIM:615067
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu... OMIM:610205
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Second degree atrioventricular block, Ventricular septal defect, Overriding aort... OMIM:617021
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ... OMIM:314400
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary venous occlusion, Interlobu... OMIM:265450
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Left ventricular hypertrophy, Hypertension OMIM:616733
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Increased circulating ferritin concentration, Cerebral hemorrhage OMIM:618886
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol con... ORPHA:289548
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy, Atelectasis, Neonatal death OMIM:300219
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol con... ORPHA:168558
Familial Thrombocytosis
Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmonary arterial hypertension, Sync... ORPHA:71493
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... OMIM:171420
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Carotid artery stenosis, ... OMIM:602531
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:242700
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Increased serum py... ORPHA:1349
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Morgagni diaphragmatic hernia, Atelect... OMIM:613177
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperinsulinemia, T... OMIM:604367
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Left bundle branch block, Hepatomegaly, Right atrial ... OMIM:115197
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Addison Disease
Thymoma, Hypotension, Type I diabetes mellitus, Androgen insufficiency, Adrenal calcification, In... ORPHA:85138
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Hyperaldosteronism, Adr... ORPHA:369929
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypokalemia, Decreased circulating cortisol level, Hypertension, Reduced circulating... OMIM:611489
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... OMIM:168000
Alpha-1-Antitrypsin Deficiency
Emphysema, Bronchiectasis, Bronchitis ORPHA:60
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchi... ORPHA:1572
Polyarteritis Nodosa
Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive protein concentration, Hypert... ORPHA:767
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Anomalous origin of right pulmonary artery from... ORPHA:99050
Senior-Loken Syndrome
Hypertension ORPHA:3156
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Palpitations, Hyperl... ORPHA:565612
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Vascular tortuosity... OMIM:614437
Waardenburg Syndrome Type 3
Atelectasis, Camptodactyly of finger ORPHA:896
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hyp... ORPHA:231580
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Elevated... ORPHA:57777
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Renal artery stenosi... OMIM:171300
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Ectopic Aldosterone-Producing Tumor
Epistaxis, Decreased circulating renin level, Hypokalemia, Hypertension, Glucocortocoid-insensiti... ORPHA:231632
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... OMIM:601198
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Dilatation of the cerebral arte... OMIM:130050
Farber Disease
Recurrent upper respiratory tract infections, Skeletal muscle atrophy, Atelectasis, Cherry red sp... ORPHA:333
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Hypertension ORPHA:567544
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hyperten... OMIM:613677
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, ... OMIM:616166
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Hypertension, Neoplasm of the adr... ORPHA:251992
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary capillary hemangiomatosis, ... OMIM:234810
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypertension, Adrena... OMIM:201910
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl... ORPHA:94080
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the... OMIM:613751
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Left ventricula... OMIM:301500
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hypertension OMIM:614495
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening OMIM:619632
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Goiter OMIM:231690
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... OMIM:613426
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive... OMIM:614096
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and... OMIM:615962
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Incr... ORPHA:101028
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Dextrocardia
Abnormal pulmonary situs morphology, Congenital malformation of the great arteries, Abnormality o... ORPHA:1666
Narcolepsy Type 1
Precocious puberty, Syncope, Hypertension ORPHA:2073
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:2516
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Increased circulating androgen concentration, Elevated ... ORPHA:90795
Seckel Syndrome 10
Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Congestive heart failure... OMIM:617253
Neonatal Marfan Syndrome
Emphysema, Flexion contracture, Aortic root aneurysm, Ascending tubular aorta aneurysm ORPHA:284979
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Coronary art... ORPHA:36913
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia OMIM:202110
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Atelectasis, Lower limb muscle weakness, Dilatation of the cerebral artery, Transient... ORPHA:365
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Vascular dilatation, Atelectasis ORPHA:2314
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept... OMIM:601005
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Stroke, Carotid artery stenosis, Arteriosclerosis of small cerebral ar... OMIM:600142
Denys-Drash Syndrome
Hypertension ORPHA:220
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Phace Association
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... OMIM:606519
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Type I diabetes mellitus, Mitral valve prolapse, Ventricular septal defec... ORPHA:371428
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension OMIM:619111
Alopecia Universalis
Type I diabetes mellitus, Abnormality of the thyroid gland, Hypertension, Abnormal circulating li... ORPHA:701
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Rhabdoid Tumor
Hypercalcemia, Hypertension, Internal hemorrhage ORPHA:69077
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Truncus arteriosus, Transposition of the gre... OMIM:620294
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Increased circulating ferritin concentration, Elevated ci... OMIM:614034
Nephronophthisis 2
Elevated circulating creatinine concentration, Situs inversus totalis, Pulmonary insufficiency, H... OMIM:602088
Marfan Syndrome
Arterial dissection, Spontaneous pneumothorax, Pulmonary artery dilatation, Aortic root aneurysm,... ORPHA:558
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Chemodectoma, Palpitations, Hypertension associated wit... OMIM:605373
Morgagni-Stewart-Morel Syndrome
Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, Abnormalit... ORPHA:77296
Developmental And Epileptic Encephalopathy 111
Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Pulmonary artery stenosis, ... OMIM:620504
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension, Vascular dilatation OMIM:613320
Fish-Eye Disease
Atherosclerosis, Splenomegaly, Angina pectoris, Decreased HDL cholesterol concentration, Hepatome... ORPHA:79292
Preeclampsia
Elevated systolic blood pressure, Type I diabetes mellitus, Elevated diastolic blood pressure, El... ORPHA:275555
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hyperactive renin-angiot... OMIM:601678
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Scleromyxedema
Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att... ORPHA:167635
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery ORPHA:1131
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure, Splenomegaly, Coronary ar... ORPHA:2348
Stiff Skin Syndrome
Type II diabetes mellitus, Hypertension, Abnormal circulating lipid concentration ORPHA:2833
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Maternal diabetes,... ORPHA:2248
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve ORPHA:228190
Ethanolaminosis
Cardiomegaly OMIM:227150
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation OMIM:301080
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Situs inversus totalis, Hypokalemia, Dextrocardia,... OMIM:613095
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Abnormal hemidiaphragm morphology, Pneumothorax, Recurrent ... ORPHA:2257
East Syndrome
Hypokalemia, Increased circulating renin level, Hyperaldosteronism, Hypomagnesemia ORPHA:199343
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Arterial stenosis, Stroke, Vascular dilatation, Recurrent ... ORPHA:2637
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Nephronophthisis 18
Hypertension OMIM:615862
Paroxysmal Hemicrania
Hypertension, Diabetes mellitus ORPHA:157835
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Riboflavin Transporter Deficiency
Hypogonadism, Diabetes insipidus, Hypertension ORPHA:97229
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis OMIM:245150
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Hadziselimovic Syndrome
Tetralogy of Fallot, Pulmonary artery atresia OMIM:612946
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal coronary artery morphology, Congestive heart failure, Abnormal EKG, Redu... ORPHA:980
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Marfan Syndrome
Pulmonary artery dilatation, Aortic root aneurysm, Aortic dissection, Decreased muscle mass, Emph... OMIM:154700
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema, Dilatation of the ventricular cav... ORPHA:90348
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... OMIM:617205
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Hypertension, Hypertriglyceridemia ORPHA:363400
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Pulmonary artery stenosis, Ventricular septal ... ORPHA:3427
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm, Mitral valve prolapse, Hypothyroidism, Hyperthyroidism, Hypertension, Diabe... ORPHA:449291
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Aortic root aneurysm, Gener... OMIM:208050
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi... OMIM:214700
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Agenesis of pulmonary vessels, Diaphragmatic event... OMIM:601186
Aortic Aneurysm, Familial Thoracic 12
Spontaneous pneumothorax, Aortic root aneurysm, Ascending aortic dissection, Ascending tubular ao... OMIM:619825
C3 Glomerulopathy
Elevated circulating creatinine concentration, Hypertension ORPHA:329918
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Dilatation of the cerebral artery, Elevated circulating creatinine concentr... ORPHA:730
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Tetral... ORPHA:51636
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hypertension OMIM:123550
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Acute infectious pneumonia, Foam cells ORPHA:264675
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Camptodactyly of finger ORPHA:2876
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hypertension... OMIM:615830
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Atherosclerosis, Decreased HDL cholesterol concentration, Hy... OMIM:151660
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... ORPHA:90793
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hyperactive renin-angiotensin system, Hypomag... OMIM:241200
Hemochromatosis, Type 1
Increased circulating iron concentration, Cardiomyopathy, Congestive heart failure, Increased cir... OMIM:235200
Sickle Cell Disease
Splenomegaly, Cardiomegaly, Stroke, Hepatomegaly, Hypertension OMIM:603903
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Pagod Syndrome
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnorma... ORPHA:991
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia, Aortic root aneurysm, Atelectasis, Multiple joint contractures, Stroke, Tor... ORPHA:536467
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Coarctation of aorta, Aplasia/Hypoplasia... ORPHA:1120
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... OMIM:171400
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
14Q24.1Q24.3 Microdeletion Syndrome
Pulmonary artery atresia, Truncus arteriosus ORPHA:401935
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Splenomegaly, Pulmonary arterial hyperten... OMIM:230800
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Coarctation of aorta OMIM:620210
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... OMIM:619611
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Overlap Myositis
Abnormal circulating lipid concentration, Abnormal heart morphology, Elevated circulating creatin... ORPHA:206572
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia ORPHA:3299
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve OMIM:604381
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Abnormal lung lobati... OMIM:208530
Pediatric-Onset Graves Disease
Graves disease, Sinus tachycardia, Congestive heart failure, Goiter, Puberty and gonadal disorder... ORPHA:525731
Infantile Sialic Acid Storage Disease
Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:269920
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Congestive heart failure, Hypertro... OMIM:212140
Meacham Syndrome
Diaphragmatic eventration, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Congenital al... OMIM:608978
Werner Syndrome
Abnormal cerebral vascular morphology, Atherosclerosis, Congestive heart failure, Hypogonadism, T... ORPHA:902
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Abnormal atrioventricular conduction, Congestive heart failure, Hype... ORPHA:280365
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Cardiomyopathy, Elevated circulating creatinine concentration, Punct... ORPHA:247691
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Nephroblastoma
Hypertension ORPHA:654
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Increased circulating gonadotropin level, Hypertension, ... ORPHA:347
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... OMIM:202010
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Livedoid Vasculopathy
Graves disease, Abnormal circulating lipid concentration, Ischemic stroke, Venous insufficiency, ... ORPHA:542643
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Alagille Syndrome
Peripheral pulmonary artery stenosis, Ventricular septal defect, Telangiectasia of the skin, Dela... ORPHA:52
Ciliary Dyskinesia, Primary, 53
Right aortic arch, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Atherosclerosis, Transient ischemic attack, Ischemic stroke, Cerebral i... ORPHA:1830
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymus, Tetralogy of ... ORPHA:3426
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl... ORPHA:276621
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Atherosclerosis, Mitral regurgitation, Right bundle branch block, Left atrial ... OMIM:614008
Stiff-Person Syndrome
Tachycardia, Hypertension, Diabetes mellitus OMIM:184850
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries ORPHA:261243
Leprechaunism
Central hypothyroidism, Hypertrophic cardiomyopathy, Hyperaldosteronism, Hyperinsulinemia, Hypoka... ORPHA:508
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Ri... OMIM:616749
Mercury Poisoning
Hypokalemia, Tachycardia, Hypotension, Hypertension ORPHA:330021
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Abnormal cerebral vascular morphology, Conges... ORPHA:363705
Ochoa Syndrome
Hypertension ORPHA:2704
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Coach Syndrome 1
Portal hypertension, Splenomegaly, Vascular dilatation, Hepatomegaly, Hypertension OMIM:216360
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Muscular dystrophy, Atelectasis, Absent muscle fiber merosin, Muscle fiber atrophy,... ORPHA:258
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Hyperoxaluria, Intermittent claudication, Raynaud phe... OMIM:259900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612926
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Pulmonary hypoplasia OMIM:619708
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612924
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia, Hepatomegaly OMIM:619064
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Hypercholesterolemia, Familial, 1
Tendon xanthomatosis, Coronary artery atherosclerosis OMIM:143890
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Transient ischemic attack, Cerebr... OMIM:242900
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Tempi Syndrome
Abnormality of the pulmonary vasculature, Intracranial hemorrhage, Transudative pleural effusion ORPHA:284227
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Conotruncal Heart Malformations
Coarctation of aorta, Transposition of the great arteries, Double outlet right ventricle, Truncus... OMIM:217095
Neuraminidase Deficiency
Cardiomyopathy, Cherry red spot of the macula, Splenomegaly, Cardiomegaly, Hepatomegaly, Bone-mar... OMIM:256550
Acquired Generalized Lipodystrophy
Cardiomyopathy, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration, Hy... ORPHA:79086
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Hyperammonemia, Ca... OMIM:619051
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Arterial stenosis, Hypothyroidism, Telangiectasia of the skin, Patent... ORPHA:1556
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Retinal arterial tortuosity, Limb hypertonia, Cerebral hemorrhage, Pulmonary artery ... OMIM:620371
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612925
Viss Syndrome
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tortuosity, Emph... OMIM:619472
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclerosis OMIM:209010
Infant Botulism
Hyponatremia, Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart morphology, Str... ORPHA:91139
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Bradycardia, Pericard... OMIM:614702
Short-Rib Thoracic Dysplasia 12
Neonatal death, Patent ductus arteriosus, Atelectasis, Pulmonary hypoplasia OMIM:269860
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Noonan Syndrome With Multiple Lentigines
Scapular winging, Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dilatation, Abno... ORPHA:500
Cirrhosis, Familial
Increased level of propylene glycol in blood, Pulmonary arterial hypertension, Hypertension OMIM:215600
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormal pulmonary valve mor... ORPHA:217085
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Keutel Syndrome
Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent sinusitis ORPHA:85202
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Double outlet right ventricle, Pulmonary artery atresia, Recurrent respirato... OMIM:618316
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Eleva... OMIM:300280
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections OMIM:616835
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, P... OMIM:181000
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Glycogen Storage Disease Ii
Sinus tachycardia, Dilatation of the cerebral artery, Splenomegaly, Shortened PR interval, Cardio... OMIM:232300
Fabry Disease
Atrioventricular block, Abnormal circulating lipid concentration, Congestive heart failure, Hyper... ORPHA:324
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormal pulmonary valve mor... ORPHA:217093
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardi... OMIM:266500
Alstrom Syndrome
Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Atherosclerosis, Congestive heart fa... OMIM:203800
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Bicuspid aortic valve, Double outlet right ventricle OMIM:618845
Mucopolysaccharidosis Type 2
Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphology, Abnormal pulmonary va... ORPHA:580
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal artery stenosis, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Hyperte... OMIM:617913
Zygomycosis
Atelectasis, Dilatation of the cerebral artery, Retinal arterial occlusion, Pleural effusion, Par... ORPHA:73263
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Hyperammonemia, ... OMIM:620609
Monosomy 18P
Hypothyroidism, Hypertension ORPHA:1598
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Hypertension OMIM:617763
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce... ORPHA:99094
Meacham Syndrome
Abnormal lung lobation, Tetralogy of Fallot, Conotruncal defect, Congenital diaphragmatic hernia,... ORPHA:3097
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Foam cells ORPHA:747
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, El... OMIM:614921
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl... ORPHA:29072
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect OMIM:614424
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Abnormal pulmonary interstitial morphology, Dilatation of the cerebral artery OMIM:613658
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Coarctation of aorta, Hypertension OMIM:617729
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Stroke, Arrhythmia, Pancr... ORPHA:892
Meier-Gorlin Syndrome 1
Emphysema, Joint contracture of the hand, Camptodactyly, Flexion contracture OMIM:224690
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaphragmatic herni... OMIM:611812
Paternal Uniparental Disomy Of Chromosome 1
Hypertension, Delayed puberty, Increased blood urea nitrogen, Hypercalcemia, Enlarged kidney ORPHA:251004
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatosplenomegaly, Pericardial effusion, Portal hypertension, Left ventricular ... OMIM:619487
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Absent pulmonary artery OMIM:600460
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Unil... OMIM:192430
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Gaucher Disease, Type Iiic
Aortic valve calcification, Calcification of the aorta, Splenomegaly, Mitral stenosis, Cardiomega... OMIM:231005
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Hypogonadism, Elevated circulating creatin... ORPHA:85450
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Carney Triad
Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh... ORPHA:139411
Alport Syndrome
Aortic aneurysm, Renal glomerular foam cells, Hypertension, Abnormal aortic morphology ORPHA:63
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Birk-Landau-Perez Syndrome
Increased circulating creatine kinase MB isoform, Hyperkalemia, Hypertension OMIM:617595
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Type I diabetes mellitus, Dilated cardiomyopathy, Hepatosplenomegaly, Portal hyperten... OMIM:615688
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Arrhythmia, Hep... ORPHA:42
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Atherosclerosis, Abnormal heart valve morpholo... ORPHA:56
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Reduced left ventricu... OMIM:201475
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Hyperinsu... ORPHA:79474
Menkes Disease
Gastrointestinal hemorrhage, Arterial stenosis, Venous insufficiency, Vascular dilatation, Intrac... ORPHA:565
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Methylcobalamin Deficiency Type Cble
Hypertension, Hyperhomocystinemia, Hypomethioninemia ORPHA:2169
Oligomeganephronia
Elevated circulating creatinine concentration, Secundum atrial septal defect, Hypertension, Pulmo... ORPHA:2260
Seckel Syndrome 9
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Recurrent respiratory infections OMIM:616777
Lcat Deficiency
Premature coronary artery atherosclerosis, Atherosclerosis ORPHA:650
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Camptodactyly, Pulmonary artery stenosis, Ankle flexion contracture, Knee flexion contracture ORPHA:435938
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Diaphragmatic eventration, Aorti... OMIM:620025
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Cerebral ischemia, H... ORPHA:394
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Aortic root aneurysm, Mitral valve prolapse OMIM:616914
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Increased circulating ferritin concentration, Decreased... ORPHA:465508
Nocardiosis
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis ORPHA:31204
Heterotaxy, Visceral, 6, Autosomal
Transposition of the great arteries, Total anomalous pulmonary venous return, Right aortic arch, ... OMIM:614779
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular... OMIM:261740
Sitosterolemia 1
Hyperapobetalipoproteinemia, Splenomegaly, Reduced haptoglobin level, Coronary artery atheroscler... OMIM:210250
Pituitary Apoplexy
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola... ORPHA:95613
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension OMIM:619758
Beta-Ketothiolase Deficiency
Hypotension, Hyperammonemia, Hyperuricemia, Hepatomegaly, Hypertension ORPHA:134
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pu... OMIM:100300
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Orthostatic hypoten... OMIM:223900
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... ORPHA:199241
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Congenital Myopathy 12
Camptodactyly, Pulmonary artery stenosis, Joint contracture of the hand, Jaw contracture OMIM:612540
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Hyperphosphatemia, Hypomagnesemia, Hypocalc... ORPHA:94093
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Pulmonary arteriovenous malformation, Stroke, Hepatic arteriovenous malformati... OMIM:175050
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis OMIM:306400
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Gastrocutaneous Syndrome
Coronary artery atherosclerosis ORPHA:2069
Lysosomal Acid Lipase Deficiency
Hypotension, Hyperkalemia, Adrenal calcification, Hepatosplenomegaly, Primary adrenal insufficien... ORPHA:275761
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Patent ductus arteriosus, Varicose veins ORPHA:33001
Senior-Boichis Syndrome
Increased total bilirubin, Hepatosplenomegaly, Portal hypertension, Carotid artery dilatation, Hy... ORPHA:84081
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins OMIM:618000
Carnitine Palmitoyltransferase I Deficiency
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Transient hyper... OMIM:255120
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Elevated circulating creatine k... ORPHA:308552
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocyto... OMIM:115310
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Hypertension, Increased blood urea... OMIM:235400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Aortic atherosclerotic lesion, Accelerated atherosclerosis, Coronary artery atherosclerosis ORPHA:209902
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Williams Syndrome
Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect... ORPHA:904
Nephronophthisis 1
Hypertension OMIM:256100
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Igg4-Related Retroperitoneal Fibrosis
Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large vessel vasculitis, Has... ORPHA:49041
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... OMIM:617713
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Hypertensive crisis, Pulmonary arterial hypertension, Congestive hear... ORPHA:220393
Bartter Syndrome Type 4
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin syst... ORPHA:89938
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hyponatremia, Tachycardia, Inappropriate antidiuret... ORPHA:79473
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Abnormal aortic morphology, Congenital diaphragmatic hernia, Pulmonary arter... ORPHA:251071
Relapsing Polychondritis
Large vessel vasculitis, Vascular dilatation, Atelectasis ORPHA:728
Spondyloenchondrodysplasia
Vasculitis, Decreased response to growth hormone stimulation test, Hypothyroidism, Raynaud phenom... ORPHA:1855
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Splenomegaly, Hematemesis, Hepatomegaly, Hypertension, Enlarged kidney OMIM:263200
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Postinfectious Vasculitis
Bacterial endocarditis, Cardiomyopathy, Cerebral vasculitis, Elevated haptoglobin level, Ischemic... ORPHA:48435
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Preductal... ORPHA:141127
Loeys-Dietz Syndrome 6
Spontaneous pneumothorax, Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cereb... OMIM:619656
Ritscher-Schinzel Syndrome 2
Camptodactyly, Pulmonary artery hypoplasia, Patent ductus arteriosus, Camptodactyly of finger OMIM:300963
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Atelectasis, Abnormal lung lobation, Tetralogy of Fallot, Retina... ORPHA:567
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Renal artery stenosis, Pituitary hypothyro... ORPHA:1435
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... ORPHA:900
Glycogen Storage Disease Ia
Hyperlipidemia, Hyperuricemia, Delayed puberty, Hepatomegaly, Hypertension, Enlarged kidney OMIM:232200
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Coronary artery atherosclerosis, Atrial septal defect, Patent ductus a... ORPHA:435638
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Dextrotransposition of the great arteries, Bilateral tri... OMIM:270100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hypotension, Hypertension, Hyperuricemia OMIM:174000
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Congenital lobar overinflation, Coarctation of aorta OMIM:600987
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur ORPHA:99931
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hyperammonemia, Arrhythmia, Hyperalaninemia, Hypertension OMIM:614052
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Pulmonary artery atresia ORPHA:1908
Low Phospholipid-Associated Cholelithiasis
Hypertension, Diabetes mellitus, Hypercholesterolemia ORPHA:69663
Tangier Disease
Coronary artery stenosis, Facial diplegia, Left ventricular hypertrophy, Carotid artery stenosis,... ORPHA:31150
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Aortic dissection, Medial calcification of large arteries, Arterial calc... ORPHA:51608
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension ORPHA:43116
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Increased circulating ACTH level, Hypertension, Pituitary adenoma OMIM:219090
Crimean-Congo Hemorrhagic Fever
Retinal hemorrhage, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, ... ORPHA:99827
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism, Hypertension, Transient hyperphenylalaninemia ORPHA:98808
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Caudal Regression Syndrome
Hypertension, Maternal diabetes ORPHA:3027
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Hypocalcemia, Prolonged QT interval, Atrial fibrill... ORPHA:31826
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Transient ischemic attack, Ischemic stroke, Abnormal common carotid artery morphology,... ORPHA:500150
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent foramen ovale, Atrial septal defect, Pulmonic stenosis OMIM:619149
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Hyperphosphatemia, Shock, Elevated circulatin... ORPHA:340
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson... OMIM:614947
Digeorge Syndrome
Interrupted aortic arch, Recurrent pneumonia, Right aortic arch with mirror image branching, Atel... OMIM:188400
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Le... OMIM:306955
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Conotruncal defect, Persiste... ORPHA:2306
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Pulmonary fibrosis, Atelectasis OMIM:618278
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Hypertension ORPHA:97362
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Hyperlipidemia, Pulmonary embolism, Hypoalbuminemia ORPHA:567546
Hurler Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Endocardial fibroelastosis, Splenomegaly, Angina... ORPHA:93473
Glycogen Storage Disease Ib
Hyperlipidemia, Splenomegaly, Hyperuricemia, Delayed puberty, Hepatomegaly, Hypertension, Enlarge... OMIM:232220
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Elevated circulating creatine kinase co... ORPHA:268
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Sarcoidosis
Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Facial palsy,... ORPHA:797
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension OMIM:614653
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Increased circulating ferritin concentration, Hypertrophic cardiomyopat... OMIM:615846
Neurofibromatosis Type 1
Precocious puberty, Arterial stenosis, Pheochromocytoma, Carcinoid tumor, Delayed puberty, Abnorm... ORPHA:636
Hardikar Syndrome
Hepatosplenomegaly, Hyperbilirubinemia, Portal hypertension, Splenomegaly, Patent foramen ovale, ... OMIM:301068
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Coarctation ... ORPHA:1692
Neuroblastoma
Elevated circulating catecholamine level, Hypertension, Increased circulating ferritin concentration ORPHA:635
Lead Poisoning
Decreased circulating osteocalcin level, Increased LDL cholesterol concentration, Delayed puberty... ORPHA:330015
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis ORPHA:75389
Sandhoff Disease
Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatom... OMIM:268800
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... OMIM:610655
Renal Agenesis
Hypertension, Ventricular septal defect ORPHA:411709
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Hypertension, Azotemia OMIM:104200
Chand Syndrome
Atelectasis ORPHA:1401
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Familial Dysautonomia
Hyponatremia, Tachycardia, Hypertension, Orthostatic hypotension ORPHA:1764
Glycogen Storage Disease Ic
Spider hemangioma, Hyperlipidemia, Hyperuricemia, Pulmonary arterial hypertension, Delayed pubert... OMIM:232240
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Patent ductus arteriosus, Abnormal lung lobation OMIM:300514
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Coro... ORPHA:785
Fibromuscular Dysplasia, Multifocal
Pulmonary artery aneurysm, Celiac artery dissection, Tortuous cerebral arteries, Dilatation of th... OMIM:619329
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Xfe Progeroid Syndrome
Hypoalbuminemia, Hypertension OMIM:610965
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... ORPHA:740
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy ORPHA:401923
Tuberous Sclerosis Complex
Pituitary adenoma, Pheochromocytoma, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Parathy... ORPHA:805
Wagro Syndrome
Hypertension OMIM:612469
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Hunter-Macdonald Syndrome
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicuspid aortic valve, Hyperte... OMIM:611962
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Hypertension OMIM:301050
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Interrupted aortic arch, Pulmonary artery dilatation, Abnormal lung lobation, Tetralogy of Fallot... OMIM:265380
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Arthrogryposis multiplex congenita, Double outlet right ventricle OMIM:301056
Renal Hypoplasia
Hypertension ORPHA:93101
Adams-Oliver Syndrome
Tetralogy of Fallot, Pulmonary artery atresia, Arteriovenous malformation ORPHA:974
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Poliomyelitis
Hypovolemic shock, Hypotension, Hypertension ORPHA:2912
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypothyroidism, Hypertension ORPHA:93256
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Patent ductus arteriosus OMIM:620113
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Congenital diaphragmatic hernia, Coarctation of aorta, Camptodactyly, Repea... OMIM:617602
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Decreased response to growth hormone stimulation test, Hepatosplenomega... OMIM:602782
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine concentration,... OMIM:608836
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Ground-glass opac... ORPHA:60025
Amyloidosis, Hereditary Systemic 1
Orthostatic hypotension due to autonomic dysfunction, Stroke-like episode, Cardiomegaly, Cardiomy... OMIM:105210
Neurofibromatosis, Type I
Pheochromocytoma, Renal artery stenosis, Hypertension, Parathyroid adenoma OMIM:162200
Cockayne Syndrome Type 1
Hepatomegaly, Male hypogonadism, Hypertension, Increased blood urea nitrogen ORPHA:90321
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Hypertriglyceridemia, Mitral valve prolapse, Caro... ORPHA:536532
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Proteus Syndrome
Pulmonary cyst, Bronchogenic cyst, Arteriovenous malformation, Decreased muscle mass, Abnormal lu... ORPHA:744
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... ORPHA:228308
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Shortened QT interval, Pituitary... ORPHA:652
Alexander Disease
Precocious puberty, Hypotension, Hypothyroidism, Sudden cardiac death, Hypertension, Diabetes mel... ORPHA:58
Fryns Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal a... ORPHA:2059
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent... OMIM:619573
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar... OMIM:300989
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Spontaneous pneumothorax, Aortic r... OMIM:610168
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pulmonary embolism, Budd-Chiari syndrome, Reduced hapto... ORPHA:447
Bardet-Biedl Syndrome 1
Hypogonadism, Left ventricular hypertrophy, Nephrogenic diabetes insipidus, Hypertension, Diabete... OMIM:209900
Noonan Syndrome 9
Coarctation of aorta OMIM:616559
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia OMIM:619170
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia ORPHA:391428
Immunodeficiency 49
Pulmonary artery stenosis OMIM:617237
17Q11 Microdeletion Syndrome
Precocious puberty, Elevated circulating parathyroid hormone level, Hypertrophic cardiomyopathy, ... ORPHA:97685
Blau Syndrome
Large vessel vasculitis, Splenomegaly, Aortic aneurysm, Pulmonary arterial hypertension, Hyperten... ORPHA:90340
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:617450
Von Hippel-Lindau Syndrome
Pheochromocytoma, Hypertension, Paraganglioma OMIM:193300
Myhre Syndrome
Aortic valve stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Per... OMIM:139210
Hyperlipoproteinemia, Type Id
Premature coronary artery atherosclerosis, Increased circulating chylomicron concentration, Splen... OMIM:615947
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure OMIM:619259
Posterior Urethral Valve
Hypertension ORPHA:93110
Mosaic Trisomy 16
Coarctation of aorta, Single coronary artery origin, Abnormal lung morphology, Patent ductus arte... ORPHA:1708
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy ORPHA:158687
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hypertension OMIM:120330
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Abnormal cardiac septum morphology OMIM:615009
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, ... OMIM:220111
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating calcitonin concentration, Hyperphos... ORPHA:79443
Acute Intermittent Porphyria
Hyponatremia, Tachycardia, Hypertension ORPHA:79276
Focal Dermal Hypoplasia
Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Abnormality of the pul... ORPHA:2092
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring OMIM:616954
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Hyperlipidemia, Pulmonary venous hypertension, Hyperuricemia, Hypothyroidism, Delayed ... ORPHA:79259
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Atelectasis ORPHA:534
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal heart morphology, Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect ORPHA:500159
Sotos Syndrome
Small cell lung carcinoma, Ankle flexion contracture, Hip contracture, Bilateral camptodactyly, A... ORPHA:821
Familial Osteodysplasia, Anderson Type
Hypertension, Hyperuricemia ORPHA:2769
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Myhre Syndrome
Precocious puberty, Hypertension, Abnormal cardiac septum morphology, Hypogonadism ORPHA:2588
Au-Kline Syndrome
Hypertension, Aortic root aneurysm OMIM:616580
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Apert Syndrome
Hypertension ORPHA:87
Denys-Drash Syndrome
Hypertension, Enlarged kidney OMIM:194080
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Abnormal circulating copper concentration, Cardiomegaly, Abnormal circul... OMIM:620306
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Hyperinsuli... ORPHA:99413
Mosaic Monosomy X
Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Hyperinsuli... ORPHA:99228
Monosomy X
Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Hyperinsuli... ORPHA:99226
Turner Syndrome
Hypoplastic left heart, Arterial dissection, Aortic dissection, Aortic arch aneurysm, Hyperinsuli... ORPHA:881
Orofaciodigital Syndrome I
Abnormal heart morphology, Hypertension, Vascular dilatation OMIM:311200
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial sept... OMIM:613610
Cockayne Syndrome A
Hypogonadism, Splenomegaly, Thymic hormone decreased, Persistent left superior vena cava, Arrhyth... OMIM:216400
Pauci-Immune Glomerulonephritis
Abnormality of the pulmonary vasculature, Pulmonary hemorrhage, Arteritis, Small vessel vasculitis ORPHA:93126
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Cantú Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... ORPHA:95699
Noonan Syndrome 10
Coarctation of aorta, Pleural effusion, Patent ductus arteriosus, Left ventricular hypertrophy OMIM:616564
Acute Transverse Myelitis
Subarachnoid hemorrhage, Decreased circulating copper concentration, Hypertension, Orthostatic hy... ORPHA:139417
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Marshall-Smith Syndrome
Ventricular septal defect, Premature ventricular contraction, Pulmonary arterial hypertension, At... OMIM:602535
Lipodystrophy, Familial Partial, Type 7
Type I diabetes mellitus, Pulmonary arteriovenous malformation, Pulmonary arterial hypertension, ... OMIM:606721
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Hypertensive crisis, Elevated circulating calcitonin concentration, E... ORPHA:653
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Hypocalcemia, Hyponatremia, Myocarditis, Hyperkalemia, Hypertension, Diabete... ORPHA:544482
Scalp-Ear-Nipple Syndrome
Type I diabetes mellitus, Hypertension ORPHA:2036
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premature coro... ORPHA:90324
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Ventricular septal defect ORPHA:329224
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect OMIM:619721
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect OMIM:617751
Multicystic Dysplastic Kidney
Hypertension, Enlarged kidney ORPHA:1851
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Hallermann-Streiff Syndrome
Telangiectasia, Pulmonary arterial hypertension, Hypertension OMIM:234100
Cockayne Syndrome
Vascular calcification, Retinal arteriolar constriction, Atherosclerosis, Absence of pubertal dev... ORPHA:191
Smith-Lemli-Opitz Syndrome
Precocious puberty, Hypoalbuminemia, Hypertrophic cardiomyopathy, Hypocholesterolemia, Splenomega... OMIM:270400
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia ORPHA:2203
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega... ORPHA:3472
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Stuve-Wiedemann Syndrome 1
Pulmonary hypoplasia, Elbow flexion contracture, Knee flexion contracture, Contracture of the pro... OMIM:601559
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Pulmonary artery atresia, A... OMIM:212093
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Abnormal lung lobation, Abnormal aortic morphology, Coarctation of aorta, Rha... ORPHA:1052
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic morphology ORPHA:1001
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Follicular thyroid carcinoma, Increased circul... ORPHA:1359
Robinow Syndrome, Autosomal Dominant 3
Camptodactyly, Pulmonary artery atresia, Patent ductus arteriosus OMIM:616894
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation, Left ventricular hypertrophy ORPHA:99106
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat... OMIM:194050
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Macroglossia, Patent ductus arteriosus OMIM:614609
Somatomammotropinoma
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:314769
Peters Plus Syndrome
Abnormal pulmonary vein morphology, Patent ductus arteriosus, Abnormality of the pulmonary artery ORPHA:709
Pierson Syndrome
Retinal hemorrhage, Hypertension, Hypoproteinemia OMIM:609049
Acromegaly
Pituitary prolactin cell adenoma, Hypertrophic cardiomyopathy, Pituitary growth hormone cell aden... ORPHA:963
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure OMIM:181270
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Coarctation of aorta, Double outlet right ventricle, Joint contracture, Pulmonary artery atresia,... OMIM:618164
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Increas... ORPHA:99889
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hepatosplenomegaly, Portal hypertension, Splenomegaly, Increased ser... ORPHA:731
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Distal amyotrophy, Premature coronary artery atherosclerosis, Abnormality o... ORPHA:909
Orofaciodigital Syndrome Type 1
Hypertension, Vascular dilatation ORPHA:2750
Contractural Arachnodactyly, Congenital
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At... OMIM:121050
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... OMIM:618838
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Tetralogy of Fallot, Muscular ventricular septal defect, Hyperbilirubinemia, Patent foramen ovale... OMIM:210710
Telangiectasia, Hereditary Hemorrhagic, Type 1
Arteriovenous fistulas of celiac and mesenteric vessels, Pulmonary hemorrhage, Dilatation of mese... OMIM:187300
Unilateral Polymicrogyria
Stroke, Pulmonary arteriovenous malformation ORPHA:268943
Arima Syndrome
Hepatomegaly, Hypertension OMIM:243910
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Tetralogy of Fallot, Congenital diaphragmatic hernia, Truncus arteriosus... OMIM:600001
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect OMIM:617022
Chronic Visceral Acid Sphingomyelinase Deficiency
Cherry red spot of the macula, Abnormal pulmonary interstitial morphology, Interstitial pneumonit... ORPHA:77293
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Moyamoya phenomenon, Hepatosplenomegaly, Calcification of the aorta,... ORPHA:51
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Elevated circ... OMIM:248250
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Congestive heart failure, Hypocholesterolemia, Abnormal cir... ORPHA:14
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Small vessel vasculitis, Elevated circulating C-r... OMIM:620376
Cockayne Syndrome B
Hepatomegaly, Arrhythmia, Hypertension, Splenomegaly OMIM:133540
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Hypertension, Atrial septal defect OMIM:300896
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Renal Dysplasia
Hypertension, Enlarged kidney ORPHA:93108
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:620511
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Increased serum beta-hexosaminidase, Congestive heart failure, Hypertrophic... OMIM:252500
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lip telangiectasia, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa ORPHA:79280
Ogden Syndrome
Torsade de pointes, Hyperbilirubinemia, Ventricular septal defect, Premature ventricular contract... OMIM:300855
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Double outlet right ventricle, Ventricular septal defect OMIM:616652
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Hepatosplenomegaly, Hypertension OMIM:266920
Loeys-Dietz Syndrome 3
Spontaneous pneumothorax, Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dil... OMIM:613795
Cornelia De Lange Syndrome 6
Pulmonary artery atresia OMIM:620568
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Squalene Synthase Deficiency
Bicuspid aortic valve OMIM:618156
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Atrial septal defect OMIM:619720
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:457279
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology, Mucosal telangiectasiae ORPHA:2463
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Hypoplasia of the musculature, Aor... OMIM:609192
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Loeys-Dietz Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Camptodactyly of finger, Aortic aneu... ORPHA:60030
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Pulmonary artery stenosis ORPHA:140952
Systemic Lupus Erythematosus
Hypertension, Raynaud phenomenon ORPHA:536
Down Syndrome
Tetralogy of Fallot, Pulmonary artery stenosis, Double outlet right ventricle, Partial anomalous ... OMIM:190685
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary artery s... ORPHA:2255
Bardet-Biedl Syndrome
Cardiomyopathy, Abnormal heart morphology, Hypogonadism, Type II diabetes mellitus, Hypertriglyce... ORPHA:110
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Abnormal cerebral vascular morphology, Transient ischemic attack, Pul... ORPHA:774
Holoprosencephaly
Tetralogy of Fallot, Abnormal aortic morphology, Congenital diaphragmatic hernia, Aplasia/Hypopla... ORPHA:2162
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic ... OMIM:245600
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa... OMIM:619991
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tetralogy of Fallot, Abnormality of the pulmonary artery, Pulmonary artery sling, Coarctation of ... ORPHA:261537
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Coarctation of aorta, Abnormal aortic morphology ORPHA:2396
Igg4-Related Kidney Disease
Arteritis, Interstitial pneumonitis, Abnormal aortic morphology, Abnormal lung morphology, Pleuritis ORPHA:449395
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Coarctation of ao... ORPHA:42775
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Recurrent respiratory infections, Abnormal aortic morphology, Camptodactyly ... ORPHA:1507
Kleefstra Syndrome
Tetralogy of Fallot, Bicuspid aortic valve, Arrhythmia, Ventricular septal defect ORPHA:261494
X Small Rings
Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect ORPHA:96201
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tetralogy of Fallot, Abnormality of the pulmonary artery, Pulmonary artery sling, Coarctation of ... ORPHA:261552
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Koolen-De Vries Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:610443
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Mucopolysaccharidosis Type 3
Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal mitral... ORPHA:581
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:610759
Koolen-De Vries Syndrome
Bicuspid aortic valve, Abnormal cardiac septum morphology ORPHA:96169
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect OMIM:620654
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Atrial septal def... ORPHA:79330
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, C... ORPHA:284984
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Congenital diaphragmatic hernia, Pulmonary hypoplasia OMIM:273395
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical c... OMIM:130650
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:130720
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral... OMIM:182250
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Ventricular septal defect, Bicuspid aor... ORPHA:453499
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Congestive heart failure, Decreas... OMIM:256040
Fucosidosis
Hepatomegaly, Hypothyroidism, Cardiomegaly ORPHA:349
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale OMIM:300707
Syndromic Diarrhea
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:84064
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia ORPHA:97297
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cherry red spot of the macula OMIM:230000
Juvenile Polyposis Syndrome
Arteriovenous malformation, Transient ischemic attack, Hepatic arteriovenous malformation, Pulmon... ORPHA:2929
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve OMIM:176690
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven... ORPHA:508498
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Card... ORPHA:96191
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Bicuspid aortic valve, Mitral regurgitation OMIM:613563
Charge Syndrome
Tetralogy of Fallot, Right aortic arch, Overriding aorta, Double outlet right ventricle, Pulmonar... OMIM:214800
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrial septal defect, Hypertension, Corneal neovascularization OMIM:308205
Distal Deletion 15Q
Hypoplastic left heart, Double outlet right ventricle with doubly committed ventricular septal de... ORPHA:1596
Fanconi Anemia
Arteriovenous malformation, Tetralogy of Fallot, Abnormal aortic morphology, Abnormal carotid art... ORPHA:84
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Arterial rupture, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, ... ORPHA:536545
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Bicuspid aortic valve OMIM:301111
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Beckwith-Wiedemann Syndrome
Visceromegaly, Hypertrophic cardiomyopathy, Adrenocortical cytomegaly, Splenomegaly, Pseudohypopa... ORPHA:116
Alström Syndrome
Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes me... ORPHA:64
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Patent foramen ovale, Pulmonic stenosis OMIM:617137
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Intr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Intr... ORPHA:363958
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:271640
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect ORPHA:352665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Right aortic arch, Neonatal death, Recurrent lower respiratory tract... OMIM:619534
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Ventricular sep... ORPHA:353281
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Congestive heart failure, Ventricular septal defect, Bicuspid aortic valve,... OMIM:619475
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:613355
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve ORPHA:1772
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Abnormal heart morphology, Bicuspid aortic valve, Left ventricular hyper... OMIM:612289
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... OMIM:612474
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Patent foramen ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Patent foramen ... ORPHA:353277
Cranioectodermal Dysplasia 1
Bicuspid aortic valve OMIM:218330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:438213
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Non... OMIM:607872
Trichorhinophalangeal Syndrome, Type Ii
Partial anomalous pulmonary venous return, Bicuspid aortic valve, Right ventricular hypertrophy, ... OMIM:150230
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Partial atrioventricular canal defect, Patent foramen ovale, Ventricul... OMIM:616462
Mowat-Wilson Syndrome
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Bicuspid aortic valve, Abn... 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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