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Gene: Kcnj8 MGI:1100508

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Gene Summary

Name:
potassium inwardly-rectifying channel, subfamily J, member 8
Synonyms:
slmbr,  sltr,  Kir6.1,  gnite

Order Alleles

IMPC Data Collections

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.

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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 Kcnj8 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 Kcnj8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Cantú Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517

The table below shows human diseases predicted to be associated to Kcnj8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Left ventricular outflow tract obstruct... OMIM:615779
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Ao... OMIM:617912
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... ORPHA:2041
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... OMIM:614823
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr... OMIM:612422
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Nathalie Syndrome
Arrhythmia ORPHA:2663
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Periventricular Nodular Heterotopia
Aortic regurgitation, Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm ORPHA:98892
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury... OMIM:619825
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Arrhythmia, Pulm... ORPHA:228410
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Abnormal coronary artery morphology, Mildly reduced ... ORPHA:99094
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Ethanolaminosis
Cardiomegaly OMIM:227150
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Weill-Marchesani Syndrome
Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis ORPHA:3449
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis ORPHA:2871
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... OMIM:616166
Takayasu Arteritis
Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial... ORPHA:3287
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,... ORPHA:363705
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Aortic Valve Disease 1
Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect, Mitral atresia, Aortic valve c... OMIM:109730
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... ORPHA:2326
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Bacterial endocarditis, Dil... ORPHA:1054
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Cardiomegaly, Cong... OMIM:614473
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... OMIM:620236
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... ORPHA:555877
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Pulmonic stenosis, Atri... OMIM:220210
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los... ORPHA:2198
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Carotid artery dissection, Congenital diaphragmati... OMIM:208050
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss ORPHA:52416
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect OMIM:615476
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Cap Myopathy
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of... ORPHA:171881
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... ORPHA:230851
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, Mitral valve prolapse, A... OMIM:193400
Idiopathic Achalasia
Gastroesophageal reflux, Dysphagia, Weight loss ORPHA:930
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... OMIM:614096
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Tuberculosis
Weight loss ORPHA:3389
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp... OMIM:230800
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi... OMIM:615415
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Weight loss OMIM:191390
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Pulmonary Blastoma
Weight loss ORPHA:64741
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100080
Familial Atrial Fibrillation
Palpitations, Atrial fibrillation, Syncope, Myocardial infarction ORPHA:334
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac se... ORPHA:96147
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Singleton-Merten Syndrome 2
Aortic valve calcification, Arrhythmia, Aortic valve stenosis OMIM:616298
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial sep... OMIM:108900
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Mucopolysaccharidosis, Type X
Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve... OMIM:619698
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Patent ductus ar... ORPHA:210122
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Myocardial infarction, Cardiomegaly, Carotid artery calcification,... OMIM:208000
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti... OMIM:135500
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... OMIM:212138
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Hepatosplenomegaly, Atrial... OMIM:267010
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100082
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Ulcerative colitis, Weight loss, Inflammation of the large intestine, Cro... OMIM:266600
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Telangiectasia of the skin, Myocarditis, Pulmonary arterial hyper... ORPHA:81
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Aortic valve stenosis, Flexion contracture, Pulmonic stenosis ORPHA:75496
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Hypotension, Atrial septal def... OMIM:615668
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Stroke, C... ORPHA:449285
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... ORPHA:3097
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Temtamy Syndrome
Aortic regurgitation, Aortic aneurysm OMIM:218340
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Patent ductus arteriosus, Aortic valve stenosis OMIM:243310
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Atrioventricular canal defect, Abnor... ORPHA:7
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a... ORPHA:1600
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Splenomegaly,... OMIM:607015
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... OMIM:618164
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... ORPHA:254346
Fibromuscular Dysplasia, Arterial
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... OMIM:135580
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Emanuel Syndrome
Torticollis, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus... OMIM:609029
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:97287
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Myocardial infarction, Cardiomegaly... ORPHA:904
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Trisomy 17P
Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Macroglossia, Hypoplastic... ORPHA:261290
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Analbuminemia
Patent ductus arteriosus, Hypotension OMIM:616000
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss... OMIM:613662
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... OMIM:601808
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... OMIM:123700
Aa Amyloidosis
Hepatomegaly, Enlarged kidney, Hypotension, Abnormal heart morphology ORPHA:85445
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate, Weight loss ORPHA:141152
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... ORPHA:388
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Failure to thrive, High palate, Weight loss OMIM:620045
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
1P36 Deletion Syndrome
Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger, Patent ductus art... ORPHA:1606
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction OMIM:615703
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contracture, Fatigable weaknes... ORPHA:365
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, P... ORPHA:99050
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve steno... OMIM:614185
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocard... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocard... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocard... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocard... ORPHA:881
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage OMIM:603585
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part... OMIM:619657
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Transaldolase Deficiency
Hepatosplenomegaly, Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Atrial septa... ORPHA:101028
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Emanuel Syndrome
Multiple joint contractures, Ventricular septal defect, Congenital diaphragmatic hernia, Patent d... ORPHA:96170
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100075
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Facial palsy, Coarctation of aorta ORPHA:2780
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly ORPHA:93474
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Aortic root aneurysm, Mitral regurgitation, Camptodactyly, Atrial sept... OMIM:301039
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis, Camptodactyly ORPHA:459061
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... OMIM:619745
Scimitar Syndrome
Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing... ORPHA:185
Mass Syndrome
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm OMIM:604308
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Arterial tortuosity, Patent d... ORPHA:284984
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Aortic valve stenosis, Intimal thickening in the coronary arteries, Mitral regurgit... OMIM:253010
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Macroglossia, Hepatosplenomegaly ORPHA:309288
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Dystonia 23
Arrhythmia OMIM:614860
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Cardio... OMIM:607014
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Hypotension ORPHA:99828
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... ORPHA:422
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss ORPHA:160148
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Contractural Arachnodactyly, Congenital
Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Elbo... OMIM:121050
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... OMIM:611962
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... OMIM:212140
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... ORPHA:85438
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:980
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Splenomegal... ORPHA:84064
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Charge Syndrome
Aortic arch aneurysm, Facial palsy, Patent ductus arteriosus, Abnormal cardiac septum morphology,... ORPHA:138
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly OMIM:269920
Scrub Typhus
Splenomegaly, Myocarditis, Hypotension ORPHA:83317
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Cardio... OMIM:256550
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... OMIM:175050
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension, Abnormal heart morphology ORPHA:391673
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:188
Perry Syndrome
Hypotension ORPHA:178509
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... OMIM:154700
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia ORPHA:140952
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Rhabdomyosarcoma, Coarctation of aorta, Abnormal aortic morphology, Muscula... ORPHA:1052
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Nipah Virus Disease
Hypotension ORPHA:99825
Fragile X Syndrome
Ascending tubular aorta aneurysm, Mitral valve prolapse ORPHA:908
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, T... ORPHA:261330
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke OMIM:615750
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm... ORPHA:3342
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Tortuous cerebral arteries OMIM:616603
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve... OMIM:231050
Anauxetic Dysplasia 1
Macroglossia, Hip contracture, Aortic valve stenosis, Elbow flexion contracture OMIM:607095
Pseudomyxoma Peritonei
Inflammation of the large intestine, Intestinal obstruction, Weight loss ORPHA:26790
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple... OMIM:252500
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus ar... ORPHA:1120
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Portal hypertension, Situs inversus totalis, Splenomegaly, Patent ductus arteriosus... OMIM:208540
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Fatigable weakness, Myopathy, Distal arthrog... ORPHA:42
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Preeclampsia
Hypertension, Elevated systolic blood pressure, Elevated diastolic blood pressure ORPHA:275555
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction,... ORPHA:117
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Weight loss ORPHA:100083
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Splenomeg... OMIM:614866
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Subvalvular aortic stenosis OMIM:250951
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Chronic Hiccup
Weight loss ORPHA:396
Legionnaires Disease
Pericarditis, Splenomegaly, Myocarditis, Endocarditis, Hypotension, Arrhythmia ORPHA:549
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Myocard... ORPHA:3452
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Familial Cervical Artery Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... ORPHA:36382
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect OMIM:620072
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... OMIM:614816
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Isaacs Syndrome
Weight loss ORPHA:84142
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Facial palsy, Atrioventri... ORPHA:508498
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... ORPHA:477817
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Tetralogy of Fallot, Abnormal aortic ... ORPHA:1166
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonic stenosis, T... OMIM:222470
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Patent ductus arterio... ORPHA:464311
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... ORPHA:740
Denys-Drash Syndrome
Hypertension ORPHA:220
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Macroglossia, Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Limb hypertonia OMIM:609460
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Atrial septal defect, Right atrial isomerism, Ventricular septal defe... OMIM:270100
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Pericardial effusion, Hypotension ORPHA:292
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Mulibrey Nanism
Cachexia ORPHA:2576
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Huntington Disease-Like 2
Weight loss ORPHA:98934
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Weight loss ORPHA:103910
Meningococcal Meningitis
Shock, Stroke, Hypotension ORPHA:33475
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... ORPHA:284169
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation... ORPHA:90348
Neonatal Marfan Syndrome
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Flexion contracture, Heart murmur... ORPHA:284979
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Hypotension ORPHA:79456
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Reticular Dysgenesis
Malabsorption, Failure to thrive, Weight loss ORPHA:33355
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy OMIM:252920
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... ORPHA:3426
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter... ORPHA:464306
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Senior-Loken Syndrome
Hypertension ORPHA:3156
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly OMIM:613320
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm ORPHA:261102
Pfapa Syndrome
Malabsorption, Weight loss ORPHA:42642
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... OMIM:139210
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Camptodactyly of finger, Mitral regurgitation, Facial palsy ORPHA:261349
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Hepatosplenomegaly ORPHA:98850
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept... ORPHA:96121
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Vascular tortuosity, Congenital diaphragmatic hernia, Supravalv... OMIM:219100
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension OMIM:264350
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... ORPHA:2912
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556037
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Elbow flexion contracture,... ORPHA:1900
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Dysphagia, Weight loss, Hematochezia, P... ORPHA:2070
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... OMIM:182250
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly OMIM:272950
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Aortic valve stenosis OMIM:613563
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation OMIM:252600
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Mitral valve prolapse... OMIM:617402
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Subarachnoid hemorrhage, Cerebral hemo... ORPHA:90068
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556030
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abno... ORPHA:536471
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Aortic root aneurysm, Mitral valve prolapse ORPHA:449291
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... OMIM:201475
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Hemochromatosis, Type 2A
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Atypical Werner Syndrome
Skeletal muscle atrophy, Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebr... ORPHA:79474
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h... OMIM:619178
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Cogan Syndrome
Aortic regurgitation, Vasculitis, Large vessel vasculitis ORPHA:1467
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse, Hypertension, Dilatation of the cerebral artery, Aortic root aneurysm, Abn... ORPHA:730
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Abn... ORPHA:99104
Glutaric Aciduria Iii
Hypertension OMIM:231690
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Liddle Syndrome 1
Hypertension OMIM:177200
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly ORPHA:99931
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Multiple muscular ventricular septal defects, Aortic aneurysm, Atrial septa... OMIM:620070
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353281
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomeg... OMIM:602782
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... OMIM:300845
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension OMIM:201910
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septa... OMIM:612474
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular r... OMIM:601927
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Telangiectasia, ... OMIM:606003
Boudin-Mortier Syndrome
Aortic root aneurysm, Mitral valve prolapse OMIM:619543
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... OMIM:616652
Sneddon Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital contracture, Arth... ORPHA:115
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Reactive Arthritis
Aortic regurgitation, Pericarditis ORPHA:29207
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Cachexia, Intestinal atresia ORPHA:93941
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Congestive heart failure, Myocarditis, Vasculitis,... ORPHA:2331
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ... ORPHA:397
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta ORPHA:2308
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myositis, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Malignant Peritoneal Mesothelioma
Ileus, Weight loss ORPHA:168811
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Pulmonary artery stenosis, Patent... ORPHA:251071
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
X Small Rings
Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Ventricular septal defect ORPHA:96201
Serotonin Syndrome
Hypertension, Tachycardia, Rhabdomyolysis, Hypotension ORPHA:43116
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Hepatomegaly, Ventricular septal defect, Coarctation of aorta OMIM:620210
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Facial hypotonia, Hepatosplenomegaly, Macroglossia, Mitral regurgitation, M... ORPHA:309282
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi... OMIM:300166
Seckel Syndrome 10
Ventricular hypertrophy, Hypertension, Abdominal aortic aneurysm, Congestive heart failure OMIM:617253
Cronkhite-Canada Syndrome
Intestinal polyposis, Cachexia, Malabsorption, Furrowed tongue, Hamartomatous polyposis, Colon ca... ORPHA:2930
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ... OMIM:617506
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Hajdu-Cheney Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Aortic valve ste... ORPHA:955
Nephronophthisis 18
Hypertension OMIM:615862
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:609192
Turnpenny-Fry Syndrome
Aortic regurgitation, Torticollis, Facial hypotonia, Patent ductus arteriosus, Mitral valve prola... OMIM:618371
Mend Syndrome
Limb hypertonia, Aortic valve stenosis, Abnormal heart morphology ORPHA:401973
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Mitr... OMIM:603387
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Mitral valve prolapse, Mitral reg... OMIM:601776
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... OMIM:619534
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Ascending tubular aorta... ORPHA:444072
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve OMIM:176690
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric... ORPHA:99827
Cardiac Valvular Dysplasia 1
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Lef... OMIM:212093
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension ORPHA:1192
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Aortic root aneurysm, Mitral ... OMIM:615582
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Camptodactyly of finger, Hypotension ORPHA:2135
Beta-Ketothiolase Deficiency
Hypertension, Hypotension, Hepatomegaly ORPHA:134
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral art... OMIM:620025
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Cerebral hemorrhage, Flexion contracture, ... ORPHA:666
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d... OMIM:309520
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertension, Stroke OMIM:603903
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Tricuspid stenosis, Heart murmur, Palpitations, Hypotension ORPHA:100079
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, A... OMIM:617140
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Weight loss... ORPHA:131
Moynahan Syndrome
Cachexia ORPHA:2574
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Bicuspid aortic valve, Ventricular septal defect, Congestive h... OMIM:619475
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Hypertension, Aortic root aneurysm, Mitral valve prolapse OMIM:616914
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Lacunar st... ORPHA:136
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension ORPHA:427
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Ascending tubular a... OMIM:617403
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... OMIM:617478
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Splenomegaly, Bradycardia, Hypotension ORPHA:90051
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Noonan Syndrome 10
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... OMIM:616564
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Stroke-like e... OMIM:105210
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... ORPHA:158687
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction OMIM:618620
Cholera
Hypovolemic shock, Tachycardia, Stroke, Hypotension ORPHA:173
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Coenzyme Q10 Deficiency, Primary, 8
Hypertension OMIM:616733
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Descending aortic ... ORPHA:558
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... ORPHA:465508
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Hypotension ORPHA:98849
Focal Myositis
Weight loss ORPHA:48918
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy OMIM:102200
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Coach Syndrome 2
Hypertension OMIM:619111
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... ORPHA:1880
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Coarctation of aorta, M... ORPHA:371428
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Precocious atherosclerosis, Hypovolemia, Hepatosplenomegaly, Stroke, Hypo... ORPHA:275761
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Duodenal ulcer, Cachexia, Malabsorption ORPHA:3217
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Hypotrophy of the sma... OMIM:610443
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Atrophic muscu... ORPHA:298
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fal... ORPHA:1926
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353277
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Aortic root ane... OMIM:617602
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:145420
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis ORPHA:494424
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Hypotension, Limb hypertonia OMIM:608643
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of a... OMIM:614857
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of ... OMIM:608978
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Huntington Disease-Like 2
Weight loss OMIM:606438
Autosomal Dominant Hypocalcemia
Fatigable weakness, Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ascending tubular ao... ORPHA:453499
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly OMIM:616897
Mend Syndrome
Aortic valve stenosis OMIM:300960
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta OMIM:618929
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Riboflavin Transporter Deficiency
Hypertension ORPHA:97229
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Mitral valve prolapse, Prominent superficial veins, Carotid artery stenosis OMIM:618000
Okamoto Syndrome
Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal... ORPHA:2729
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... OMIM:175500
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm, Mitral valve prolapse OMIM:130000
Cantú Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus a... OMIM:601186
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Nephroblastoma
Hypertension ORPHA:654
Acute Adrenal Insufficiency
Orthostatic hypotension, Myocardial infarction, Hypovolemia, Stroke, Hypotension ORPHA:95409
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Ochoa Syndrome
Hypertension ORPHA:2704
Alkaptonuria
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Thickened ... OMIM:203500
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Lipodystrophy, Familial Partial, Type 5
Hypertension OMIM:615238
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Arrhythm... ORPHA:94093
Meester-Loeys Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... OMIM:300989
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia ORPHA:85446
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Noonan Syndrome 2
Abnormal coronary artery origin, Ventricular septal defect, Patent ductus arteriosus, Coarctation... OMIM:605275
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Bidirectional shunt, Patent ductus arteriosus, Thoracic aorti... OMIM:619351
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... OMIM:265380
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Abnormal left ventricu... ORPHA:75249
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Gitelman Syndrome
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Hellp Syndrome
Hypotension, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Juvenile Paget Disease
Hypertension ORPHA:2801
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Cardiac arrest ORPHA:168593
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... OMIM:617022
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Myopathy, Arte... ORPHA:109
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Wolman Disease
Esophageal varix, Cachexia, Steatorrhea ORPHA:75233
Mast Cell Sarcoma
Weight loss ORPHA:66661
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Mitral valve prolapse, Ascend... ORPHA:536467
C3 Glomerulopathy
Hypertension ORPHA:329918
Benign Recurrent Intrahepatic Cholestasis
Hepatocellular carcinoma, Acholic stools, Weight loss ORPHA:65682
Lateral Meningocele Syndrome
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus... OMIM:130720
Refractory Celiac Disease
Villous atrophy, Malabsorption, Weight loss, Protein-losing enteropathy, Jejunitis ORPHA:398063
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Arterial tortuosity, Aortic root aneurysm, Generalized arterial ... OMIM:614437
Desmoplastic Small Round Cell Tumor
Ileus, Cachexia, Weight loss ORPHA:83469
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Nephronophthisis 2
Hypertension, Pulmonary insufficiency OMIM:602088
Cockayne Syndrome Type 3
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Subdural hemorrhage, Re... ORPHA:90324
Pituitary Apoplexy
Hypertension, Hypotension ORPHA:95613
Stiff Skin Syndrome
Hypertension ORPHA:2833
Alexander Disease
Hypotension, Hypertension, Facial palsy, Sudden cardiac death ORPHA:58
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... OMIM:608836
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Abnormal heart morphology, Persistent left superior vena cava, Coarcta... OMIM:618494
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrha... ORPHA:509
Follicular Lymphoma
Weight loss ORPHA:545
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Calcification of the aor... ORPHA:51
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl... ORPHA:358
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... ORPHA:42775
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Primary Unilateral Adrenal Hyperplasia
Hypertension, Palpitations, Epistaxis ORPHA:231580
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension ORPHA:199299
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Heme Oxygenase 1 Deficiency
Hypertension, Epistaxis, Diffuse alveolar hemorrhage OMIM:614034
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... ORPHA:2876
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Weight loss ORPHA:2221
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Typhoid
Gastrointestinal hemorrhage, Arrhythmia, Epistaxis, Cardiac arrest ORPHA:99745
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Proximal muscle weakness in lower limbs, Aortic root aneurysm, Flexion ... ORPHA:280633
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemor... ORPHA:536545
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Hyperaldosteronism, Familial, Type Iii
Hypertension OMIM:613677
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Juvenile Huntington Disease
Weight loss ORPHA:248111
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati... OMIM:603041
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Acrocardiofacial Syndrome
Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Coarctation of aorta, Atrial... ORPHA:2008
Ectopic Aldosterone-Producing Tumor
Hypertension, Epistaxis ORPHA:231632
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Facial hypotonia, Abnormal cardiac ventricle morphology, Hypopl... ORPHA:261311
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Alagille Syndrome 2
Hypertension, Pulmonic stenosis OMIM:610205
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension OMIM:615954
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Opitz Gbbb Syndrome
Enlarged ovaries, Ventricular septal defect, Congenital diaphragmatic hernia, Patent foramen oval... ORPHA:2745
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... OMIM:301500
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Dysphagia, Weight loss ORPHA:142
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension OMIM:617021
Pagod Syndrome
Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery h... ORPHA:991
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Dysbetalipoproteinemia
Accelerated atherosclerosis, Hepatomegaly, Angina pectoris, Type IV atherosclerotic lesion, Tendo... ORPHA:412
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Christianson Syndrome
Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Liposarcoma
Weight loss ORPHA:69078
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:65286
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:2990
Dk1-Cdg
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy ORPHA:91131
Prolactinoma
Hypotension ORPHA:2965
X-Linked Agammaglobulinemia
Glossoptosis, Failure to thrive, Malabsorption, Weight loss ORPHA:47
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Telangiectasia ... ORPHA:286
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esophagus morpho... ORPHA:1018
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Dilatation of the cerebral arte... ORPHA:287
Monosomy 18P
Hypertension ORPHA:1598
Immunodeficiency 23
Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Osteogenesis Imperfecta, Type I
Mitral valve prolapse, Aortic aneurysm OMIM:166200
Majeed Syndrome
Malabsorption, Failure to thrive, Cachexia, Weight loss ORPHA:77297
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction OMIM:615812
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive... ORPHA:183
Lipodystrophy, Familial Partial, Type 3
Hypertension OMIM:604367
Alport Syndrome
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Renpenning Syndrome
High, narrow palate, Cleft palate, Cachexia, Anal atresia ORPHA:3242
Bullous Pemphigoid
Weight loss ORPHA:703
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... ORPHA:536532
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Hec Syndrome
Cardiomyopathy, Arrhythmia ORPHA:2119
Pparg-Related Familial Partial Lipodystrophy
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:79083
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension OMIM:612924
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation OMIM:618343
Pediatric-Onset Graves Disease
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia ORPHA:525731
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi... ORPHA:220393
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron... ORPHA:51608
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... ORPHA:444077
Klatskin Tumor
Cholangiocarcinoma, Weight loss ORPHA:99978
Huntington Disease
Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss ORPHA:399
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension OMIM:215600
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Weight loss ORPHA:33276
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wave, Abnor... ORPHA:466650
Loeys-Dietz Syndrome
Cardiac arrest, Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Aortic di... ORPHA:60030
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction OMIM:208060
Kleefstra Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Coarctation of aorta... ORPHA:261494
Plague
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia ORPHA:707
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Cachexia ORPHA:884
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension OMIM:612926
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Aortic root aneurysm, Flexion contracture, Generalized limb muscle atrophy OMIM:618891
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Arrhythmia OMIM:249270
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217085
Frasier Syndrome
Hypertension ORPHA:347
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Blau Syndrome
Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegaly, Large vessel vasculitis, Hyper... ORPHA:90340
Osteosarcoma
Weight loss ORPHA:668
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Weight loss, Neoplasm of the re... ORPHA:144
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217093
Familial Isolated Hypoparathyroidism
Arrhythmia ORPHA:2238
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Rin2 Syndrome
Aortic aneurysm ORPHA:217335
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly OMIM:614846
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta OMIM:300867
Mcdonough Syndrome
Cachexia ORPHA:2471
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Flexion contr... ORPHA:261537
Pemphigus Vulgaris
Weight loss ORPHA:704
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... OMIM:600001
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... ORPHA:261552
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension OMIM:615474
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Weight loss, Failu... OMIM:619377
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:168558
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Medullary Thyroid Carcinoma
Dysphagia, Weight loss ORPHA:1332
Nephronophthisis 1
Hypertension OMIM:256100
Cardiac-Urogenital Syndrome
Atrial septal defect, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardi... OMIM:618280
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:289548
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1194
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:3386
Thymic Carcinoma
Weight loss ORPHA:99868
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension OMIM:612925
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Weight loss, Gastrointes... ORPHA:679
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... OMIM:612289
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363958
Multiple Endocrine Neoplasia, Type Iia
Hypertension, Palpitations OMIM:171400
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint contracture of the hand, Mitral valve prolapse, Camptodactyly, Aortic aneurysm OMIM:182212
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red ... ORPHA:17
Werner Syndrome
Hypertension, Telangiectasia of the skin, Congestive heart failure, Myocardial infarction ORPHA:902
Toriello-Carey Syndrome
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... ORPHA:3338
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Flexion contracture, Coa... ORPHA:2152
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia ORPHA:772
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch... ORPHA:1830
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon, Cachexia ORPHA:52503
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Malabsorption, Hepatocellular carcinoma, Weight loss, Neoplasm of th... ORPHA:440437
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Hypertension, Pulmonary lymphangiomyomatosis, Internal hemorrhage, Aortic an... ORPHA:805
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Weight loss ORPHA:216866
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta OMIM:617260
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Fatal Familial Insomnia
Dysphagia, Weight loss OMIM:600072
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... ORPHA:1596
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension OMIM:610475
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... ORPHA:90362
Coach Syndrome 1
Hypertension, Portal hypertension OMIM:216360
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Bardet-Biedl Syndrome
Hypertension ORPHA:110
Oromandibular Dystonia
Dysphagia, Weight loss ORPHA:93958
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, Adenomatous colonic ... ORPHA:79076
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Leber Optic Atrophy
Arrhythmia OMIM:535000
Inflammatory Pseudotumor Of The Liver
Neoplasm of the liver, Weight loss ORPHA:90003
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension OMIM:613095
Acrodermatitis Enteropathica
Malabsorption, Furrowed tongue, Weight loss, Failure to thrive, Glossitis ORPHA:37
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Abnormal heart mor... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Abnormal heart mor... ORPHA:352665
Yao Syndrome
Xerostomia, Weight loss OMIM:617321
Huntington Disease-Like 1
Weight loss ORPHA:157941
Immunodeficiency 27A
Weight loss OMIM:209950
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Addison Disease
Orthostatic hypotension, Hypotension ORPHA:85138
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Fg Syndrome Type 1
Progressive flexion contractures, Mitral valve prolapse, Coarctation of aorta, Atrial septal defe... ORPHA:93932
Intussusception
Intussusception OMIM:147710
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Narrow palate, High palate, Cachexia OMIM:618186
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Schimke Immunoosseous Dysplasia
Hypertension, Cerebral ischemia, Pulmonary arterial hypertension, Transient ischemic attack OMIM:242900
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Weight loss ORPHA:2902
Fryns Syndrome
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Abnormal cardiac septum morphol... ORPHA:2059
Alagille Syndrome
Hypertension, Telangiectasia of the skin ORPHA:52
Acute Liver Failure
Intracranial hemorrhage, Shock, Gastrointestinal hemorrhage, Hypotension ORPHA:90062
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Perianal abscess, Weight loss, Inflammation of the large intestine, Colitis, A... OMIM:301074
Aicardi-Goutieres Syndrome 9
Hypertension, Pericarditis, Increased blood pressure, Portal hypertension OMIM:619487
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Overlap Myositis
Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension ORPHA:206572
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension OMIM:619758
Amoebiasis Due To Entamoeba Histolytica
Gastrointestinal dysmotility, Intestinal obstruction, Acute colitis, Weight loss ORPHA:67
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Functional intestinal obstruction, Weight loss, Neoplasm of the li... ORPHA:1333
Chronic Beryllium Disease
Weight loss ORPHA:133
Birk-Landau-Perez Syndrome
Hypertension OMIM:617595
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... ORPHA:581
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Congestive heart failure OMIM:203800
Macs Syndrome
Dilation of Virchow-Robin spaces, Aortic aneurysm OMIM:613075
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Cherry red spot of t... OMIM:230000
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, I... ORPHA:85450
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Ogden Syndrome
Atrial septal defect, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular se... OMIM:300855
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... ORPHA:2255
Lowry-Maclean Syndrome
Atrioventricular canal defect, Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:2409
Au-Kline Syndrome
Hypertension, Aortic root aneurysm OMIM:616580
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia ORPHA:60040
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta OMIM:300514
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Weight loss ORPHA:324964
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm, Joint contracture OMIM:615349
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension ORPHA:79086
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Livedoid Vasculopathy
Telangiectasia of the skin, Hypertension, Ischemic stroke ORPHA:542643
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Restrictive Dermopathy
Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Patent ductus arteriosus, Asc... ORPHA:1662
Epidermal Nevus Syndrome
Weakness of long finger extensor muscles, Rhabdomyosarcoma, Aortic aneurysm ORPHA:35125
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Aortic aneurysm OMIM:150250
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita OMIM:608013
Pallister-Killian Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Flexion con... OMIM:601803
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... OMIM:601992
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Third degree atrioventricular block OMIM:530000
Hydrops Fetalis
Arrhythmia, Capillary leak ORPHA:1041
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Porphyria Variegata
Hypertension, Tachycardia ORPHA:79473
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia OMIM:614052
Caudal Regression Syndrome
Hypertension ORPHA:3027
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Leishmaniasis
Weight loss ORPHA:507
Spondyloenchondrodysplasia
Raynaud phenomenon, Hypertension, Vasculitis ORPHA:1855
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension OMIM:610489
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Adrenocortical Carcinoma
Hypertension, Palpitations ORPHA:1501
Heart Block, Congenital
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... OMIM:234700
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness ORPHA:14
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia ORPHA:96191
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Celiac Disease, Susceptibility To, 1
Celiac disease, Failure to thrive, Steatorrhea, Weight loss OMIM:212750
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Hypertension, Portal hypertension OMIM:263200
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Myopa... OMIM:614557
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Glossopharyngeal Neuralgia
Odynophagia, Oral-pharyngeal dysphagia, Weight loss ORPHA:221098
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Rheumatic Fever
Myocarditis, Pericarditis, Epistaxis, Arrhythmia ORPHA:3099
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aor... ORPHA:285
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy OMIM:609015
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctation... OMIM:618454
Pituitary Adenoma 4, Acth-Secreting
Hypertension OMIM:219090
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Wagro Syndrome
Hypertension OMIM:612469
Renal Hypoplasia
Hypertension ORPHA:93101
Immunodeficiency 31C
Villous atrophy, Weight loss, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussus... OMIM:614162
Gm1 Gangliosidosis
Weight loss, Macroglossia, Gastroesophageal reflux, Dysphagia, Failure to thrive ORPHA:354
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Mosaic Trisomy 16
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Coarctation of ao... ORPHA:1708
Renal Hypoplasia, Bilateral
Hypertension ORPHA:97362
Lead Poisoning
Hypertension ORPHA:330015
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, Hypotension ORPHA:90794
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ... ORPHA:2162
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Hypertension, ... OMIM:220111
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Botulism
Arrhythmia ORPHA:1267
Rheumatoid Arthritis
Weight loss OMIM:180300
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, We... ORPHA:537
Mosaic Trisomy 1
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio... ORPHA:1692
Igg4-Related Retroperitoneal Fibrosis
Budd-Chiari syndrome, Hypertension, Renovascular hypertension, Large vessel vasculitis ORPHA:49041
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Portal hypertension, Hematemesis, Splenomegaly, Pulmonar... OMIM:301068
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Nestor-Guillermo Progeria Syndrome
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... OMIM:614008
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... ORPHA:85443
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Arrhythmia ORPHA:746
Perry Syndrome
Weight loss OMIM:168605
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Cardiomyopathy, Arrhythmia ORPHA:228305
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Foodborne Botulism
Arrhythmia ORPHA:228371
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood pressure, Hypertension ORPHA:90041
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Thymoma
Neoplasm of the gastrointestinal tract, Ulcerative colitis, Weight loss ORPHA:99867
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Weight loss, H... ORPHA:913
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Joint contracture of the hand... OMIM:280000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension OMIM:235400
Imerslund-Gräsbeck Syndrome
Failure to thrive, Glossitis, Weight loss ORPHA:35858
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Hurler Syndrome
Cardiomyopathy, Hypertension, Angina pectoris ORPHA:93473
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal internal carotid artery morphology, Renova... ORPHA:97685
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... ORPHA:3472
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Ogden Syndrome
Cardiogenic shock, Arrhythmia ORPHA:276432
Renal Agenesis
Hypertension ORPHA:411709
Hallermann-Streiff Syndrome
Hypertension, Pulmonary arterial hypertension, Telangiectasia OMIM:234100
Solitary Fibrous Tumor
Neoplasm of the liver, Weight loss ORPHA:2126
Galloway-Mowat Syndrome 3
Hypertension, Camptodactyly, Coarctation of aorta OMIM:617729
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Congestive heart fa... OMIM:256040
Fanconi Anemia
Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... ORPHA:84
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Sm... OMIM:105650
Apert Syndrome
Hypertension ORPHA:87
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Hypertension OMIM:615688
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Xfe Progeroid Syndrome
Hypertension OMIM:610965
Posterior Urethral Valve
Hypertension ORPHA:93110
Robinow Syndrome
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Pulmonic stenosis, At... ORPHA:97360
Cockayne Syndrome Type 1
Hypertension ORPHA:90321
Glycogen Storage Disease Ic
Hypertension, Pulmonary arterial hypertension, Spider hemangioma OMIM:232240
Rett Syndrome
Gastroesophageal reflux, Cachexia OMIM:312750
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Silver-Russell Syndrome
Gastroesophageal reflux, Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Papillorenal Syndrome
Hypertension OMIM:120330
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Gastritis, Cachexia, Malabsorption, Ileus, Colitis, Abnormal intest... ORPHA:37042
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal... ORPHA:1507
Alport Syndrome 3A, Autosomal Dominant
Hypertension OMIM:104200
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:268249
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Pulmonary embolism ORPHA:567546
Aredyld Syndrome
Cachexia ORPHA:1133
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Reti... ORPHA:567
Pancreatic Triacylglycerol Lipase Deficiency
Colitis, Steatorrhea, Weight loss ORPHA:309031
2Q37 Microdeletion Syndrome
Abnormal aortic morphology, Congenital diaphragmatic hernia ORPHA:1001
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension OMIM:612780
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hypertension ORPHA:189427
Oligomeganephronia
Hypertension ORPHA:2260
Acute Intermittent Porphyria
Hypertension, Tachycardia ORPHA:79276
Pneumocystosis
Weight loss ORPHA:723
Castleman Disease
Abnormality of the gastrointestinal tract, Intestinal obstruction, Weight loss ORPHA:160
Gabriele-De Vries Syndrome
Facial hypotonia, Distal arthrogryposis, Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:26791
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Palpitations, Arrhythmia ORPHA:565612
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Felty Syndrome
Weight loss ORPHA:47612
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Glycogen Storage Disease Ia
Hypertension OMIM:232200
Short Syndrome
Weight loss ORPHA:3163
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Infantile Krabbe Disease
Failure to thrive, Gastroesophageal reflux, Cachexia ORPHA:206436
Proximal Renal Tubular Acidosis
Hypovolemia, Subvalvular aortic stenosis ORPHA:47159
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia ORPHA:300605
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Coarctation of aorta, Muscle hypertrop... ORPHA:1772
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, H... OMIM:157800
Aicardi-Goutieres Syndrome 7
Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyopathy OMIM:615846
Alkaptonuria
Hypertension, Myocardial infarction ORPHA:56
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Ventricular septal defect, Mitral atresia, Portal hypertension, Ascending aorta ... OMIM:619503
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Senior-Boichis Syndrome
Hypertension, Portal hypertension ORPHA:84081
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Weight loss ORPHA:100086
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation ORPHA:261211
Postinfectious Vasculitis
Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti... ORPHA:48435
Von Hippel-Lindau Syndrome
Hypertension OMIM:193300
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... ORPHA:141127
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction OMIM:602535
Prader-Willi Syndrome
Hypertension ORPHA:739
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... ORPHA:116
Bartter Syndrome, Type 1, Antenatal
Low-to-normal blood pressure OMIM:601678
Caroli Disease
Cholangiocarcinoma, Esophageal varix, Weight loss ORPHA:53035
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Esophageal stricture, Dysphagia, Weight loss ORPHA:36426
Ppoma
Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Intestinal carcinoid, Neoplasm ... ORPHA:97278
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Weight loss ORPHA:100085
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Joint contracture of the 5t... ORPHA:363611
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... OMIM:163950
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Glycogen Storage Disease Ib
Hypertension OMIM:232220
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypertension ORPHA:90793
X-Linked Intellectual Disability, Cabezas Type
High palate, Obesity, Cachexia ORPHA:85293
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Malabsorption, Weight loss ORPHA:79430
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Vipoma
Malabsorption, Weight loss, Hematochezia, Neoplasm of the liver, Abnormal gastrointestinal motili... ORPHA:97282
Bardet-Biedl Syndrome 1
Hypertension OMIM:209900
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Dysphagia, Weight loss OMIM:607459
Localized Scleroderma
Raynaud phenomenon, Arrhythmia, Vasculitis ORPHA:90289
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Myocardial infarction ORPHA:90038
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Bartter Syndrome, Type 2, Antenatal
Low-to-normal blood pressure OMIM:241200
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Somatostatinoma
Gastrointestinal hemorrhage, Intestinal obstruction, Steatorrhea, Weight loss, Neoplasm of the sm... ORPHA:97283
Primary Myelofibrosis
Cachexia ORPHA:824
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Coarctation of aorta OMIM:277170
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Ivic Syndrome
Arrhythmia ORPHA:2307
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Myocardial infarction, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyo... ORPHA:500
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P... ORPHA:508488
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Grfoma
Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Zollinger-Ellison syndrome, Int... ORPHA:97261
Denys-Drash Syndrome
Hypertension OMIM:194080
Hereditary Late-Onset Parkinson Disease
Dysphagia, Weight loss ORPHA:411602
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension OMIM:202010
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia OMIM:619184
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic... OMIM:301022
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat... ORPHA:254892
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Pancreatoblastoma
Weight loss ORPHA:677
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Myhre Syndrome
Hypertension ORPHA:2588
Glucagonoma
Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Abnormal gastrointestinal motil... ORPHA:97280
Agel Amyloidosis
Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction ORPHA:85448
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... OMIM:210710
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Shoulder muscle hypoplasia, Patent ductus arteriosus, Coarctation of a... OMIM:274000
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, Abnormal s... ORPHA:2298
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Pulmona... ORPHA:221
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Coarctation of a... OMIM:270400
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic dissection, A... OMIM:130050
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Hypertensive crisis ORPHA:544482
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Ulcerative colitis, Weight loss, Ne... ORPHA:171
Immunodeficiency 87 And Autoimmunity
Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... OMIM:619573
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Camptodactyly OMIM:616145
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypertension OMIM:617913
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia ORPHA:2874
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... OMIM:118450
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Generalized Glucocorticoid Resistance Syndrome
Hypertension ORPHA:786
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta... ORPHA:124
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension ORPHA:95699
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial palsy, Atrioventri... OMIM:619480
Cystic Echinococcosis
Weight loss ORPHA:400
Trisomy 18
Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia ORPHA:3380
Igg4-Related Kidney Disease
Pericarditis, Abnormal aortic morphology, Arteritis, Enlarged kidney ORPHA:449395
Dominant Beta-Thalassemia
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy ORPHA:231226
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Wiskott-Aldrich Syndrome
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In... ORPHA:906
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... ORPHA:96334
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Pulmonary venous hypertension, Epistaxis ORPHA:79259
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hypertension OMIM:266920
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Atrioventricular cana... OMIM:617088
Orofaciodigital Syndrome I
Hypertension OMIM:311200
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta ORPHA:1199
Cockayne Syndrome B
Hypertension, Arrhythmia OMIM:133540
Cockayne Syndrome A
Hypertension, Arrhythmia OMIM:216400
Pyomyositis
Weight loss ORPHA:764
Poems Syndrome
Weight loss ORPHA:2905
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia ORPHA:157
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Arima Syndrome
Hypertension OMIM:243910
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Flexion contracture, V... OMIM:180849
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Arrhythmia, Reduced left ventricular ejection fraction, Pulmonary arterial hypert... ORPHA:258
Kabuki Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:2322
Tropical Pancreatitis
Weight loss ORPHA:103918
Sotos Syndrome
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, ... ORPHA:821
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
Multiple Myeloma
Functional abnormality of the gastrointestinal tract, Weight loss ORPHA:29073
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Weight loss, Colitis, Anoperineal fistula, Crohn's di... OMIM:619381
Cranioectodermal Dysplasia 2
Hypertension OMIM:613610
Mgat2-Cdg
Arrhythmia, Reflex asystolic syncope ORPHA:79329
Parathyroid Carcinoma
Peptic ulcer, Dysphagia, Weight loss ORPHA:143
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Nijmegen Breakage Syndrome
Anal stenosis, Cachexia, Anorectal anomaly, Cleft palate, Anal atresia ORPHA:647
Systemic Lupus Erythematosus
Raynaud phenomenon, Hypertension ORPHA:536
Familial Thrombocytosis
Weight loss ORPHA:71493
Familial Mediterranean Fever
Pericarditis, Vasculitis, Arrhythmia, Myocardial infarction ORPHA:342
Oculopharyngodistal Myopathy 1
High palate, Dysphagia, Weight loss OMIM:164310
Beta-Thalassemia Major
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy ORPHA:231214
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia ORPHA:1969
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Cockayne Syndrome
Hypertension, Retinal hemorrhage ORPHA:191
Meckel Syndrome, Type 1
Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Abnormal c... OMIM:249000
Chronic Graft Versus Host Disease
Esophageal stricture, Xerostomia, Weight loss, Abnormal esophagus morphology, Gastroesophageal re... ORPHA:99921
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma ORPHA:653
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypertension, Portal hypertension ORPHA:731
Somatomammotropinoma
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:314769
Acromegaly
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:963
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, High palate, Dysphagia, Weight loss ORPHA:2020
Cushing Disease
Hypertension, Capillary fragility, Myocardial infarction ORPHA:96253
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Neurofibromatosis, Type I
Hypertension OMIM:162200
Lymphedema-Distichiasis Syndrome
Arrhythmia OMIM:153400
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia OMIM:309801
Oculodentodigital Dysplasia
Arrhythmia ORPHA:2710
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Hematemesis, Weight loss, Melena, Zollinger-Ellison syndrome, Gastr... ORPHA:652
Q Fever
Weight loss ORPHA:781
Renal Dysplasia
Hypertension ORPHA:93108
Ulnar-Mammary Syndrome
Arrhythmia ORPHA:3138
Microsporidiosis
Glossitis, Cachexia, Weight loss ORPHA:2552
Bartter Syndrome Type 4
Hypertension ORPHA:89938
Rat-Bite Fever
Parotitis, Weight loss ORPHA:31205
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Lipodystrophy, Familial Partial, Type 7
Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension OMIM:606721
Malt Lymphoma
Weight loss ORPHA:52417
Alveolar Echinococcosis
Weight loss ORPHA:284
Schwartz-Jampel Syndrome
Cleft palate, High palate, Cachexia, Decreased body weight ORPHA:800
Paroxysmal Nocturnal Hemoglobinuria
Hypertension, Budd-Chiari syndrome, Myocardial infarction, Pulmonary embolism ORPHA:447
Riddle Syndrome
Weight loss ORPHA:420741
Erdheim-Chester Disease
Weight loss ORPHA:35687
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Weight loss, Enlargement of parotid gland, Abnormal salivary gland morphology, Abnorm... ORPHA:79078
Brucellosis
Abnormality of the gastrointestinal tract, Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Seckel Syndrome
Cachexia ORPHA:808
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Neurofibromatosis Type 1
Hypertension ORPHA:636
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Failure to thrive in infancy, Dysphagia, Weight loss OMIM:219800
Congenital Disorder Of Glycosylation, Type Iim
Hypertension OMIM:300896
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Dilatation of the sinus of Valsalva, Elbow contracture OMIM:304120
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormal salivary gland morphology, Weight loss OMIM:181000
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Floating-Harbor Syndrome
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... ORPHA:2044
Oculodentodigital Dysplasia
Arrhythmia OMIM:164200
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746
Williams-Beuren Syndrome
Portal hypertension, Hypertension, Mitral regurgitation, Pulmonic stenosis, Supravalvular aortic ... OMIM:194050
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Abnormality of the gastrointestinal tract, Weight loss ORPHA:50918
Amoebiasis Due To Free-Living Amoebae
Arrhythmia ORPHA:68
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Esophageal varix, Cachexia ORPHA:2072
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:147920
Stickler Syndrome
Cachexia, Short hard palate, Cleft palate, Glossoptosis, Macroglossia, Gastroesophageal reflux, S... ORPHA:828
Noonan Syndrome
Arrhythmia ORPHA:648
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitatio... ORPHA:2556
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypertension, Corneal neovascularization OMIM:308205
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Increased body weight, Weight l... ORPHA:99889
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Distal arthrogryposis,... ORPHA:672
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular... ORPHA:3385
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Nocardiosis
Weight loss ORPHA:31204
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypertension OMIM:201750
Carney Complex
Hypertension, Congestive heart failure ORPHA:1359
Choreoacanthocytosis
Protruding tongue, Dysphagia, Weight loss ORPHA:2388
Sarcoidosis
Enlargement of parotid gland, Abnormality of the gastrointestinal tract, Parotitis, Weight loss ORPHA:797
Costello Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:218040
Specc1L-Related Hypertelorism Syndrome
Arrhythmia ORPHA:1519
Camurati-Engelmann Disease
Slender build, Cachexia ORPHA:1328
Craniofacial Microsomia 1
Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arteriosus, Coarctatio... OMIM:164210
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Ulnar-Mammary Syndrome
Arrhythmia OMIM:181450
Proteus Syndrome
Cachexia ORPHA:744
Simpson-Golabi-Behmel Syndrome, Type 1
Cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:312870
Goodpasture Syndrome
Weight loss OMIM:233450
Alström Syndrome
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Abnormal cor... ORPHA:64
Norrie Disease
Failure to thrive, Cachexia ORPHA:649

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 Kcnj8

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 Kcnj8.

No publications found that use IMPC mice or data for Kcnj8.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Kcnj8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kcnj8em1(IMPC)H Intra-exon deletion Mice
Kcnj8tm186034(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kcnj8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Kcnj8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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