Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
elastin
Synonyms:
tropoelastin,  E030024M20Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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 associated to Eln by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis, Decreased HDL cholesterol conce... OMIM:604091
Arterial Calcification, Generalized, Of Infancy, 1
Generalized arterial calcification, Hypophosphatemic rickets, Hypertension, Myocardial infarction... OMIM:208000
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypercholesterolemia, Hypertension OMIM:608320
Congenital Pulmonary Veins Atresia Or Stenosis
Abnormal cardiac septum morphology, Hypertension ORPHA:3188
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Arterial... ORPHA:79094
Hypertension, Essential
Elevated mean arterial pressure, Elevated diastolic blood pressure, Elevated systolic blood pressure OMIM:145500
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... ORPHA:229
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Premature coronary artery atherosclerosis, Hypertension, Myocardial infarct... OMIM:615703
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Coronary artery atherosclerosi... OMIM:613485
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Coronary artery atherosclerosis, Hypertension, Cerebral artery ... ORPHA:1192
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Hypertension, Myocardial infarction, Congestive heart failure, Coronary... OMIM:614473
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... OMIM:132900
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery ... OMIM:185500
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia OMIM:265150
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Aortic valve stenosis, Paroxysmal atrial fibrillation OMIM:615377
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertensive crisis, Abnormal a... ORPHA:3287
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis, Hypertension ORPHA:820
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Abnormal aortic morphology, Hyperuricemia, Hypertension, Cardiomyopathy ORPHA:3222
Autosomal Dominant Cutis Laxa
Emphysema, Aortic aneurysm ORPHA:90348
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Coronary artery atherosclerosis, Hypertension, Hepatomegaly, Diabetes mellitus ORPHA:79084
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556037
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... OMIM:135580
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Increased circulating renin level, Decreased circulating aldosterone l... OMIM:203400
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Hypertension, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... OMIM:103900
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertension, Sudden cardiac death, Myocardial infarction, Hypertriglycerid... OMIM:610947
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyponatremia, Hyperactive renin-angiotensin system, Increased circulating renin leve... OMIM:177735
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556030
Familial Cervical Artery Dissection
Carotid artery dilatation, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, ... ORPHA:36382
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Respiratory insufficiency, Neonatal death, Bilateral ... OMIM:601612
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Increased circ... OMIM:610600
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Pulmonary arterial medial hypertrophy, Pulmonary aterial intimal fibro... OMIM:178600
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Elevated hemoglobin A1c, Coronary artery atherosclerosis, Hypertensi... OMIM:618620
Heart Defects-Limb Shortening Syndrome
Abnormality of the pulmonary artery ORPHA:1354
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Respiratory insufficiency, Congenital diaphragmatic hernia, Abnormali... ORPHA:1166
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Coronary artery atherosclerosis, Hypertension, Hepatomegaly,... OMIM:608600
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cerebral berry aneurysm OMIM:210050
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory crackles, Pulmonary fi... ORPHA:2302
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Moyamoya Disease With Early-Onset Achalasia
Moyamoya phenomenon, Raynaud phenomenon, Hypertension ORPHA:401945
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea, Pelvic girdl... ORPHA:254361
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Lcat Deficiency
Atherosclerosis, Hypertension, Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:650
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Trimethylaminuria
Tachycardia, Hypertension, Splenomegaly OMIM:602079
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Congenital diaphragmatic hernia, Vascular tortuosity, Ascending tubular aorta aneurysm... OMIM:219100
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618114
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypercholesterolemia, Coronary artery stenosis, Hypertension OMIM:615812
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Hypertension, Cerebral hemorrhage, Cerebral ischemia, L... ORPHA:136
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Aortic Valve Disease 3
Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Atrial fibrillation, Sick sinus syndrome, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Hyperten... OMIM:218030
Hughes-Stovin Syndrome
Dyspnea, Cardiorespiratory arrest, Cough, Pulmonary artery aneurysm, Pulmonary embolism, Hemoptys... ORPHA:228116
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin leve... ORPHA:427
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Hypokal... OMIM:615474
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic root aneurysm,... ORPHA:91387
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Cough, Atelect... OMIM:615067
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Sitosterolemia 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618666
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Subarachnoid hemorrhage, Arteriosclerosis, Hypertens... ORPHA:494424
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Coronary artery aneurysm, Abnormal left ventricular function, Cerebral arte... ORPHA:391665
Generalized Pseudohypoaldosteronism Type 1
Arrhythmia, Hyponatremia, Increased circulating renin level, Glucocortocoid-insensitive primary h... ORPHA:171876
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Cor pulmonale, Right ventricular hypertrophy, Hypertension OMIM:268500
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine, Elevated systolic bl... OMIM:300539
Pancytopenia And Occlusive Vascular Disease
Peripheral arterial stenosis OMIM:167850
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Hypergonadotropic hypogonadism, Hypertension, Coronary arte... ORPHA:280679
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Patent ductus arteriosus, Hypertension, Ventricular septal defect OMIM:617021
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Hyperten... OMIM:177200
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Hypertension OMIM:613877
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Premature coronary artery atherosclerosis, Increased HDL c... ORPHA:140905
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Pneumothorax ORPHA:122
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial h... ORPHA:231625
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Abnormal circulating lipid concentration, Hypertension, Congestive heart failure, Typ... ORPHA:225
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Emphysema, Torticollis, Aortic root aneurysm, Aortic diss... OMIM:614816
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension OMIM:605635
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Dysbetalipoproteinemia
Hypercholesterolemia, Accelerated atherosclerosis, Premature coronary artery atherosclerosis, Ang... ORPHA:412
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Hypertension, Bicuspid aortic valve, Pulmonary ar... OMIM:613355
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Type II diabetes mellitus ORPHA:71529
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Double outlet right ventricle, Chronic sinusitis, Anom... ORPHA:244
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Hypertension OMIM:603278
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Tricuspid Atresia
Pulmonary artery atresia, Transposition of the great arteries, Persistent left superior vena cava... ORPHA:1209
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Apparent Mineralocorticoid Excess
Hypertension, Abnormality of circulating cortisol level, Decreased circulating renin level, Hypok... ORPHA:320
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Aortic regurgit... ORPHA:402075
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Telangiectases producing 'marbled' skin, Hypertension OMIM:206570
Primary Unilateral Adrenal Hyperplasia
Palpitations, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Hyp... ORPHA:231580
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium OMIM:613759
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atria... ORPHA:439232
Ectopic Aldosterone-Producing Tumor
Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circula... ORPHA:231632
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary arterial hypertension, Atelectasis, Neonatal asphyxia, ... ORPHA:70588
Arteriosclerosis, Severe Juvenile
Calcification of the aorta, Arteriosclerosis, Central retinal vessel vascular tortuosity, Hyperte... OMIM:208060
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypertension, Decreased circulating renin level, Hypokalemia, Adrenal hyperpl... OMIM:613677
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension, Hypokalemia ORPHA:526
Lessel-Kubisch Syndrome
Hypogonadism, Hypertension OMIM:618681
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Abnormal endocardium mo... ORPHA:758
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pecto... OMIM:264800
Cirrhosis, Familial
Pulmonary arterial hypertension, Increased level of propylene glycol in blood, Hypertension OMIM:215600
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Liddle Syndrome 3
Hypokalemia, Hypertension OMIM:618126
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Hypertension, Splenomegaly OMIM:121300
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypoalbuminemia, Hypertension ORPHA:54370
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Megabladder, Congenital
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... OMIM:618719
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Niemann-Pick Disease, Type B
Dyspnea, Diffuse reticular or finely nodular infiltrations, Foam cells with lamellar inclusion bo... OMIM:607616
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Mitral regurgitation, Cerebral berry aneurysm, Hypertension OMIM:173900
Bartter Syndrome, Type 3
Hypotension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating reni... OMIM:607364
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Vascular dilatation, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Pulmonary hypo... OMIM:613177
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Orthostatic hypotension, Hypovolemia, Hypotension, Pr... ORPHA:95409
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Aortic atherosclerotic lesion, Coronary artery atherosclerosis, Aortic root aneurysm, ... ORPHA:363618
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Fanconi Renotubular Syndrome 5
Emphysema, Decreased DLCO, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hypertension OMIM:600666
Tangier Disease
Coronary artery atherosclerosis, Atherosclerosis, Hepatomegaly, Myocardial infarction, Left ventr... OMIM:205400
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Hypertension OMIM:605711
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypoalbuminemia, Hypertension ORPHA:84090
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial tortuosity, Arterial calcification, Abnormal cardiovascular system physiology, Arterial ... ORPHA:289601
Diabetic Embryopathy
Abnormal aortic morphology, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the abdomi... ORPHA:1926
Familial Atrial Myxoma
Vascular dilatation, Tricuspid regurgitation, Cardiac myxoma, Heart murmur, Congestive heart fail... ORPHA:615
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Hypocomplementemic Urticarial Vasculitis
Restrictive ventilatory defect, Small vessel vasculitis, Dyspnea, Pleural effusion, Emphysema, Co... ORPHA:36412
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Pulmonary embolism, Peripheral arteriovenous... ORPHA:90308
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Hypothyroidism, ST segment depression, Hypertension, Hypop... ORPHA:90065
Fadd-Related Immunodeficiency
Pulmonary artery atresia ORPHA:306550
Preeclampsia
Elevated systolic blood pressure, Elevated circulating creatinine concentration, Hypertension, Ty... ORPHA:275555
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Bulbous nose, Generalized arterial tortuosity, Emphysema, Pulmonary artery a... OMIM:614437
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Amyloidosis, Familial Visceral
Hepatomegaly, Hypertension, Splenomegaly OMIM:105200
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation OMIM:114065
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Abnormal circulating hormone concentration,... ORPHA:280356
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonary artery atresia, Tetralogy of Fa... OMIM:618780
Primary Lipodystrophy
Angina pectoris, Hypertension, Type IV atherosclerotic lesion, Congestive heart failure, Type II ... ORPHA:90970
Gitelman Syndrome
Palpitations, Hypotension, Increased circulating renin level, Ventricular tachycardia, Delayed pu... OMIM:263800
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Raynaud phenomenon, Hypertension OMIM:615750
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Angina pectoris, Precocious atherosclerosis, Myocardia... OMIM:176670
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Prominent veins on trunk, Hyperuricemia, Atherosclerosis, Coronary artery athe... ORPHA:79083
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:145260
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Patent ductus arteriosus, Coarctation of aorta, Transposition o... OMIM:612474
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary... OMIM:265450
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Tachycardia OMIM:613870
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Premature pubarche, Intracranial hemorrhage,... ORPHA:90795
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Medial calcification of medium-sized arteries, Arte... OMIM:177850
Congenital Rubella Syndrome
Abnormality of the pulmonary artery, Patent ductus arteriosus ORPHA:290
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Peripheral pulmonary artery stenosis, Vascular dilatation, Respiratory insufficiency, ... ORPHA:90349
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Glucocortocoi... ORPHA:404
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Hypertension, Pulmonic stenosis, Tetr... OMIM:610205
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Left ventricular hypertrophy, Hypertension OMIM:616733
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Abnormal circ... ORPHA:403
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Grange Syndrome
Coronary artery stenosis, Renovascular hypertension, Carotid artery stenosis, Bicuspid aortic val... OMIM:602531
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Hypertension ORPHA:52022
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension OMIM:182410
Addison Disease
Androgen insufficiency, Hyperkalemia, Adrenal hypoplasia, Orthostatic hypotension, Hypotension, P... ORPHA:85138
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Aortic aneurysm, Hypertension, Telangiectasia of the skin, Ao... ORPHA:3342
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Hypertension, Insulin-resistant diabetes mell... OMIM:604367
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Adr... ORPHA:289548
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension, Splenomegaly OMIM:133100
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Adr... ORPHA:168558
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... OMIM:608406
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Right ventricular hypertrophy, Patent ductus arteriosus, Hyperte... OMIM:613623
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Flexion contracture, Abnormal... ORPHA:333
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Bronchiectasis, Emphysema, Posterior pharyn... ORPHA:1572
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Anterior hypopituitarism, Hypertension ORPHA:181
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Atherosclerosis, Hypertension, Pulmonary arterial hypertension, Right bundle b... OMIM:614008
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis OMIM:614432
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:201910
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Familial Thrombocytosis
Peripheral arterial stenosis, Cerebral ischemia, Splenomegaly, Pulmonary arterial hypertension, T... ORPHA:71493
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Polyarteritis Nodosa
Pericarditis, Cardiomyopathy, Hypertension, Elevated circulating C-reactive protein concentration... ORPHA:767
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Abnormal breath sound, Apnea, Restrictive ventilatory defect, ... ORPHA:2257
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Arrhythmia, Renal artery atherosclerosis, Coronary artery stenosis, Angina pectoris... ORPHA:565612
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Short chordae tendineae of the mitral valve, Conge... OMIM:314400
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Misalignment of the p... OMIM:265120
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Sleep apnea, Facial hypotonia, Exertional dyspnea, Lower limb muscl... ORPHA:365
Multisystemic Smooth Muscle Dysfunction Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Hypertension, Thoracic... OMIM:613834
Ehlers-Danlos Syndrome, Vascular Type
Spontaneous pneumothorax, Emphysema, Pulmonary bulla, Hemothorax, Carotid cavernous fistula, Nodu... OMIM:130050
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Keutel Syndrome
Recurrent bronchitis, Emphysema, Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasi... OMIM:245150
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Bronchiectasis, Recurrent pneumonia OMIM:242700
Senior-Loken Syndrome
Hypertension ORPHA:3156
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... OMIM:202010
Lymphangioleiomyomatosis
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Atelectasis, Chylothorax, Hemoptysis, ... ORPHA:538
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertr... ORPHA:1349
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascendin... OMIM:616166
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Hypertension ORPHA:567544
Glutaric Aciduria Iii
Goiter, Hyperthyroidism, Hypertension OMIM:231690
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Asthma, Aortic dissection, Prominent nasal bridge, Aort... OMIM:130090
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Ganglioneuroma
Abnormality of the adrenal glands, Hypertension, Gastrointestinal hemorrhage, Neoplasm of the adr... ORPHA:251992
Marfan Syndrome
Spontaneous pneumothorax, Aortic tortuosity, Emphysema, Dilatation of an abdominal artery, Arteri... ORPHA:558
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Hereditary Pulmonary Alveolar Proteinosis
Foam cells, Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumon... ORPHA:264675
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Hyperaldosteronism OMIM:619406
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:614495
Pheochromocytoma
Positive regitine blocking test, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Ta... OMIM:171300
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Ischemic stroke, Aortic tortuosity, Aortic regurgitation, Generalized ar... OMIM:208050
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... ORPHA:3384
Scimitar Syndrome
Cough, Patent ductus arteriosus, Bronchogenic cyst, Left superior vena cava draining to coronary ... ORPHA:185
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Prolonged QT i... OMIM:601005
Neonatal Marfan Syndrome
Emphysema, Flexion contracture, Wide nasal bridge, Neonatal respiratory distress, Aortic root ane... ORPHA:284979
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Underdeveloped nasal alae, Abnormal lung lobation ORPHA:2516
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly, Hypertension OMIM:613320
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Ta... OMIM:171420
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:202110
Waardenburg Syndrome Type 3
Camptodactyly of finger, Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,... OMIM:600309
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Elevated circulating creatinine concentration, Situs inversus totalis, Hypertension OMIM:613095
Rhabdoid Tumor
Hypertension, Hypercalcemia, Internal hemorrhage ORPHA:69077
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Dextrocardia
Abnormality of the pulmonary artery, Abnormal pulmonary situs morphology, Congenital malformation... ORPHA:1666
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Denys-Drash Syndrome
Hypertension ORPHA:220
Transaldolase Deficiency
Increased serum bile acid concentration, Atrial septal defect, Biventricular hypertrophy, Abnorma... ORPHA:101028
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Underdeveloped nasal alae, Patent ductus arteriosus, Recurrent respiratory infections, Vascular d... ORPHA:2637
Netherton Syndrome
Emphysema, Asthma, Recurrent respiratory infections ORPHA:634
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Hypocalcemia, Abnormal left ventricular function, Hypocalcemic tetany, Co... ORPHA:36913
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:614496
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension OMIM:619111
Phace Association
Arterial stenosis, Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta, Anomalous... OMIM:606519
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Coronary artery atherosclerosis, Hepatomegaly, Hypertriglyceridemia, Congestive ... ORPHA:2348
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Diabetes mellitus, Macronodular adrenal hyperplasia, Hypertension ORPHA:189427
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Hypertension, Bicuspid aortic valve, Atrioventri... ORPHA:371428
Paragangliomas 3
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:605373
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery, Prominent nasal bridge ORPHA:1131
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Hyperurice... OMIM:203800
Autosomal Dominant Hyper-Ige Syndrome
Cough, Vascular dilatation, Atelectasis, Wide nasal bridge, Recurrent respiratory infections ORPHA:2314
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve OMIM:300049
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Bartter Syndrome, Type 1, Antenatal
Low-to-normal blood pressure, Hyperactive renin-angiotensin system, Increased circulating renin l... OMIM:601678
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney, Pulmonary insufficiency, Elevated circulating creatinine... OMIM:602088
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Bicuspid aortic valve, Aortic root aneurysm, Mitral regurgitatio... OMIM:617168
Fish-Eye Disease
Angina pectoris, Atherosclerosis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentra... ORPHA:79292
Paragangliomas 1
Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hypertension associated with ph... OMIM:168000
Seckel Syndrome 10
Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Elevated hemoglobin A1c,... OMIM:617253
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Heterotaxy, Visceral, 8, Autosomal
Pulmonary artery atresia, Double outlet right ventricle OMIM:617205
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Cardiomegaly OMIM:618654
Paroxysmal Hemicrania
Diabetes mellitus, Hypertension ORPHA:157835
Autoimmune Pulmonary Alveolar Proteinosis
Foam cells, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cou... ORPHA:747
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Primary Pigmented Nodular Adrenocortical Disease
Hypertension, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micronodular adreno... ORPHA:189439
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... OMIM:610338
Riboflavin Transporter Deficiency
Diabetes insipidus, Hypogonadism, Hypertension ORPHA:97229
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Panbronchiolitis, Diffuse
Foam cells, Wheezing, Bronchiectasis, Cough, Crackles, Hypoxemia, Rhonchi OMIM:604809
Polycythemia Vera
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari syndrome, Ep... ORPHA:729
Fabry Disease
Arrhythmia, Angina pectoris, Hypertension, Myocardial infarction, Delayed puberty, Congestive hea... OMIM:301500
Ethanolaminosis
Cardiomegaly OMIM:227150
Juvenile Paget Disease
Hyperuricemia, Hypertension ORPHA:2801
Buschke-Ollendorff Syndrome
Abnormal aortic morphology, Hypertension ORPHA:1306
East Syndrome
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Increased circulating renin level ORPHA:199343
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Hypertension, Type II diabetes mellitus ORPHA:2833
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Hadziselimovic Syndrome
Pulmonary artery atresia, Tetralogy of Fallot, Anteverted nares, Prominent nasal bridge OMIM:612946
Hypoplastic Left Heart Syndrome
Atrial septal defect, Maternal diabetes, Mitral atresia, Patent ductus arteriosus, Hypoplastic ao... ORPHA:2248
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Mental Retardation, Autosomal Recessive 40
Bicuspid aortic valve OMIM:615599
Methimazole Embryofetopathy
Abnormal aortic morphology, Choanal atresia, Tracheoesophageal fistula, Coarctation of aorta ORPHA:1923
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating cr... OMIM:617713
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Hypertension ORPHA:363400
Danon Disease
Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated ci... OMIM:300257
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Enlarged kidney, Elevated circulating creatinine concentra... ORPHA:730
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve ORPHA:228190
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Early progressive calcific cardiac valvular di... OMIM:185069
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Hypothyroidism, Hypertension, Aortic root aneurysm, Mitral valve prolapse, Diabetes mellitus, Hyp... ORPHA:449291
C3 Glomerulopathy
Elevated circulating creatinine concentration, Hypertension ORPHA:329918
Gastrocutaneous Syndrome
Coronary artery atherosclerosis, Depressed nasal bridge ORPHA:2069
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Arrhythmia, Abnormal left ventricular function, Hypertension, Heart murmur, Elevated circulating ... ORPHA:437572
Marfan Syndrome
Decreased muscle mass, Emphysema, Camptodactyly, Flexion contracture, Pneumothorax, Aortic root a... OMIM:154700
Xfe Progeroid Syndrome
Hypertension OMIM:610965
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Arrhythmia, Hepatomegaly, Testicular atrophy, Conge... OMIM:235200
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Wide nasal bridge, Double outlet right ventricle, Pulmonary hypoplasia,... OMIM:618316
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Hepatomegaly, Cardio... OMIM:600649
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Atherosclerosis, Hypertension, Hepatomegaly, Hypertriglyc... OMIM:151660
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Increased circulating cortisol level, Pheochromocytoma, Hypertension, Thyroid C cel... OMIM:171400
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctiva... ORPHA:340
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Whim Syndrome
Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tra... ORPHA:51636
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Short nose, Wide nasal bridge, Pulmonary artery atresia, Prominent nasal bridge ORPHA:401935
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Vascular dilatation, Pericardial effusion, Granulomatous coronary arteritis, Hypertension OMIM:108050
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Scleromyxedema
Abnormal coronary artery morphology, Abnormal lung morphology, Exertional dyspnea, Abnormal pulmo... ORPHA:167635
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Hypoalbumine... ORPHA:75565
Meier-Gorlin Syndrome 6
Short nose, Underdeveloped nasal alae, Emphysema, Laryngomalacia, Tracheobronchomalacia, Antevert... OMIM:616835
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Short nose, Respiratory distress, Tracheomalacia, Atelectasis, Th... ORPHA:536467
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Cough, Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Dilatati... OMIM:613658
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm, Congenital diaphragmatic hernia ORPHA:261102
Schimke Immunoosseous Dysplasia
Arteriosclerosis, Elevated circulating thyroid-stimulating hormone concentration, Hypertension, C... OMIM:242900
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Anti-Glomerular Basement Membrane Disease
Cough, Respiratory insufficiency, Hemoptysis, Vasculitis, Pulmonary infiltrates ORPHA:375
Bartter Syndrome, Type 2, Antenatal
Low-to-normal blood pressure, Hyperactive renin-angiotensin system, Increased circulating renin l... OMIM:241200
Hyperoxaluria, Primary, Type I
Intermittent claudication, Hyperoxaluria, Atrioventricular block, Arterial occlusion, Peripheral ... OMIM:259900
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Hypertension, Diabetes mellitus, ... OMIM:615830
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Pagod Syndrome
Abnormal aortic morphology, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Congenital diaphra... ORPHA:991
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Hyperbilirubinemia, Hypermethioninemia, Pulmonic stenosis, Coarctation of a... OMIM:614300
Sarcoidosis, Susceptibility To, 1
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:181000
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Patent ductus arteriosus, Aortic aneurysm, Aortic regurgitation ORPHA:98892
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Hypoventilation, Aspiration, Congenital muscular dystrophy, Muscular dystrophy, Abs... ORPHA:258
Ciliary Dyskinesia, Primary, 37
Wheezing, Bronchiectasis, Rhinorrhea, Chronic rhinitis, Right aortic arch OMIM:617577
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Decreased serum leptin, Accelerated atherosclerosis, Supraventricular arr... ORPHA:280365
Double Outlet Right Ventricle
Hypocalcemia, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Pu... ORPHA:3426
Alkaptonuria
Abnormal heart valve morphology, Mitral valve calcification, Hypertension, Atherosclerosis, Myoca... ORPHA:56
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Truncus arteriosus, Diaphragmatic eventration, Pat... OMIM:601186
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Palpitations, Paradoxical increased co... ORPHA:1501
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Gro... ORPHA:1163
Frasier Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Streak ovary, Hypertens... ORPHA:347
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Tetanus
Elevated circulating creatine kinase concentration, Tachycardia, Hypertension, Bradycardia ORPHA:3299
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Respiratory insufficiency, Aplasia/H... ORPHA:1120
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Abnormal lung lobation, Abnormal lung morphology, Wheezing, R... ORPHA:141127
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Phaver Syndrome
Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia,... ORPHA:2876
Pediatric-Onset Graves Disease
Palpitations, Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goit... ORPHA:525731
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Livedoid Vasculopathy
Graves disease, Ischemic stroke, Abnormal capillary morphology, Abnormal circulating lipid concen... ORPHA:542643
Porphyria
Abnormal circulating porphyrin concentration, Hypertension ORPHA:738
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failure, C... OMIM:212140
Gaucher Disease, Type I
Epistaxis, Hypertension, Hepatomegaly, Aortic valve stenosis, Splenomegaly, Pulmonary arterial hy... OMIM:230800
Nephroblastoma
Hypertension ORPHA:654
Alagille Syndrome
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Hypertensi... ORPHA:52
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Lip telangiectasia, Cer... OMIM:600376
Keutel Syndrome
Underdeveloped nasal alae, Recurrent sinusitis, Tracheal atresia, Pulmonary artery stenosis, Pulm... ORPHA:85202
Leprechaunism
Hyperinsulinemia, Enlarged kidney, Enlarged ovaries, Central hypothyroidism, Increased circulatin... ORPHA:508
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hypertension OMIM:123550
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism, Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Elevat... ORPHA:247691
Eosinophilia, Familial
Recurrent bronchitis, Pulmonary infiltrates OMIM:131400
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly OMIM:269920
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Hypertension,... ORPHA:183
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve OMIM:604381
Mass Syndrome
Aortic aneurysm OMIM:604308
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Nocardiosis
Abnormal sputum, Pleuritis, Respiratory distress, Dyspnea, Pleural effusion, Emphysema, Nonproduc... ORPHA:31204
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Pulmonary edema, Abnormal blood gas level, Vasculitis, H... ORPHA:70578
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypertension OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypertension OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypertension OMIM:612926
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Schimke Immuno-Osseous Dysplasia
Arteriosclerosis of small cerebral arteries, Ischemic stroke, Hypertension, Atherosclerosis, Abno... ORPHA:1830
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Hypertension, Abnormal cardiovascular... ORPHA:79086
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Increased circulating renin level OMIM:612780
Noonan Syndrome With Multiple Lentigines
Scapular winging, Vascular dilatation, Wide nasal bridge, Abnormality of the pulmonary artery, Ap... ORPHA:500
Hypercholesterolemia, Familial, 1
Tendon xanthomatosis, Coronary artery atherosclerosis OMIM:143890
Mercury Poisoning
Hypotension, Hypokalemia, Tachycardia, Hypertension ORPHA:330021
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Irregula... ORPHA:90060
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Double outlet right ventricle, Patent ductus arteriosus, Coarctati... OMIM:618164
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Pleural effusion, Exertional dyspne... ORPHA:723
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Dilatation of the cerebral artery, Shortened PR int... OMIM:232300
Refsum Disease, Classic
Arrhythmia, Elevated levels of phytanic acid, Congestive heart failure, Cardiomegaly, Cardiomyopathy OMIM:266500
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Transposition of the great arteries, Coarctati... OMIM:217095
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Paroxysmal at... ORPHA:392
Ochoa Syndrome
Hypertension ORPHA:2704
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Cerebral artery atherosclerosis, Renal artery stenosis, Coronary artery atherosclerosis OMIM:209010
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension OMIM:619064
Coach Syndrome 1
Vascular dilatation, Hypertension, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:216360
Cutis Marmorata Telangiectatica Congenita
Hypothyroidism, Patent ductus arteriosus, Telangiectasia of the skin, Arteriovenous malformation,... ORPHA:1556
Infant Botulism
Hypotension, Hyponatremia, Cardiac arrest, Hypertension ORPHA:178478
Right Atrial Isomerism
Aortopulmonary collateral arteries, Pulmonary artery atresia, Tetralogy of Fallot, Total anomalou... OMIM:208530
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Nephronophthisis 16
Pulmonic stenosis, Aortic valve stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy OMIM:615382
Mucopolysaccharidosis Type 2, Severe Form
Arrhythmia, Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Abnormal mitral... ORPHA:217085
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Congenital Hypothyroidism
Arrhythmia, Goiter, Hypotension, Hypothyroidism, Abnormal pericardium morphology, Hypertension, A... ORPHA:442
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Mucopolysaccharidosis Type 2, Attenuated Form
Arrhythmia, Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Abnormal mitral... ORPHA:217093
Mucopolysaccharidosis Type 2
Arrhythmia, Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Abnormal heart ... ORPHA:580
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Hypertension, Splenomegaly OMIM:603903
Monosomy 18P
Hypothyroidism, Hypertension ORPHA:1598
Mullegama-Klein-Martinez Syndrome
Bulbous nose, Wide nasal bridge, Depressed nasal bridge, Congenital diaphragmatic hernia, Coarcta... OMIM:301022
Werner Syndrome
Hypertension, Telangiectasia of the skin, Atherosclerosis, Myocardial infarction, Congestive hear... ORPHA:902
Marfanoid Hypermobility Syndrome
Mitral regurgitation, Aortic aneurysm, Aortic regurgitation OMIM:154750
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hypertension, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:263200
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Stiff-Person Syndrome
Diabetes mellitus, Tachycardia, Hypertension OMIM:184850
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Posit... ORPHA:276621
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Hyperalaninemia, Cardiomegaly, Pulmonary arteri... OMIM:619051
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral valve calcification, Hepatomegaly, Mitral stenosis, Cardiomega... OMIM:231005
Joubert Syndrome 14
Hypertension OMIM:614424
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm ORPHA:1455
Cushing Disease
Hypertension, Telangiectasia of the skin, Hypokalemia, Diabetes mellitus, Adrenal hyperplasia, Ca... ORPHA:96253
Menkes Disease
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