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Gene: Hopx MGI:1916782

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
HOP homeobox
Synonyms:
Hop,  1200015P04Rik,  Cameo,  Toto,  Hod,  Ob1,  1110018K11Rik,  2300002F06Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hopx 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Heart block, Foot ... ORPHA:98912
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Cirrhotic Cardiomyopathy
Abnormal bleeding, Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventric... ORPHA:57777
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Pulmonary fibrosis, De... ORPHA:254361
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Hydrops Fetalis
Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni... ORPHA:1041
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... ORPHA:206559
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi... OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... OMIM:613507
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy OMIM:613158
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, Increased myocard... OMIM:261740
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Nathalie Syndrome
Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def... OMIM:610198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Hypoglycosylation of alpha-dystroglycan, Joi... OMIM:615351
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Rigid Spine Syndrome
Pneumonia, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Cardiac co... ORPHA:97244
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... OMIM:603830
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Paten... ORPHA:26793
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack,... ORPHA:99104
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper... OMIM:115195
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal bleeding, Abnormal heart morphology, Abn... ORPHA:398124
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... OMIM:615616
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... ORPHA:251274
Atrial Standstill 1
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... OMIM:108770
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620135
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... OMIM:310300
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Petechiae, Pericarditis ORPHA:231111
Nephrosialidosis
Pericardial effusion, Death in childhood, Ascites OMIM:256150
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Hypoplasia of the diaphragm, Ventricular septal defect, Atrial... ORPHA:185
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... ORPHA:1880
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Rhabdomyolysis,... ORPHA:90068
Hypocomplementemic Urticarial Vasculitis
Angioedema, Abnormal heart valve morphology, Emphysema, Ascites, Pleural effusion, Pericardial ef... ORPHA:36412
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Premature ventricular contraction, Heart block ORPHA:1964
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Atrophoderma Vermiculata
Heart block ORPHA:79100
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe... ORPHA:93672
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Nonimmune hydrops fetalis, Neonatal death, Pulmonary arterial hypertension, Pulmo... OMIM:619003
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Polyhydramnios, First degree atrioventricular block, Abnormal cardiac septum... ORPHA:589821
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Pedal edema, Systolic heart m... ORPHA:2299
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At... OMIM:224700
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Periphera... ORPHA:75249
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Abnormal bleeding, Cardiomyopathy, Pleural effusion, Polyhydramnios, ... ORPHA:292
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb hypertonia, Abnormal EKG, Lower limb muscle weakness, Generalized amyotrophy ORPHA:1177
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pneumothorax, Pleural effusion, Bronchiectasis ORPHA:411703
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Cerebral ischemia, Pulmonary embolism, Myocardial infarction ORPHA:3325
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Hydrops fetalis OMIM:269920
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, Abnormal pulmona... ORPHA:500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Right bundle branc... OMIM:616479
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... ORPHA:363705
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Pulmonary edema, Prolonged QT interval, Cerebral ed... ORPHA:31826
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Dilated cardiomyopathy, Muscular ventricular septal defect, Prolonged ... ORPHA:66634
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ... OMIM:617336
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy... ORPHA:542323
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism, Miscarriage ORPHA:82
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
Desminopathy
Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Weaknes... ORPHA:98909
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pleural effusion, Ecchymosis, Pericardial ... ORPHA:464329
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Arrhythmia, Prolonged QT interval, Acute rhabdomyolysis, EMG: myopathic abnormalities ORPHA:480864
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Splenomegaly, Telangiectasia... OMIM:235200
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Rett Syndrome
Prolonged QTc interval, Skeletal muscle atrophy, Abnormal T-wave OMIM:312750
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev... OMIM:265450
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Myositis, Raynaud phenomenon, Pericardial effusion, Edema ORPHA:93552
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepat... OMIM:256550
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Abnormal P wave, Postural hyp... ORPHA:85443
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Pedal edem... ORPHA:980
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Pedal edema, B... ORPHA:97214
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Mulibrey Nanism
Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Hydrops ... OMIM:253250
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Torsade de pointes, Rhabdomyolysis, Ventricular tachycardia, Ventric... OMIM:616878
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval, Prolonged prothrombin... ORPHA:71212
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia OMIM:266500
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Scapular winging, Prol... OMIM:170390
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EK... OMIM:310200
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Palpitations, Weakness of facial musculature, Premature ventricul... OMIM:602668
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Recurrent upper respiratory tract infections, Anasarca, Ascites, Pleural effusion, ... OMIM:618183
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Ascite... ORPHA:99827
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia... OMIM:618775
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Q Fever
Pneumonia, Vasculitis, Abnormal heart valve morphology, Pleural effusion, Purpura, Myocarditis, A... ORPHA:781
Dextrocardia
Abnormal EKG, Abnormal heart morphology, Abnormal lung lobation, Situs inversus totalis, Abnormal... ORPHA:1666
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... OMIM:613426
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Death in adolescence, Pulmonary arterial hypertension, ... OMIM:619751
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... ORPHA:77261
Congenital Toxoplasmosis
Ascites, Hepatomegaly, Cardiomegaly ORPHA:858
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Lower limb muscle weakness, Palpitations, Rhabdomyolysis, S... ORPHA:79102
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemotho... ORPHA:2038
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Limb muscle weakness, Arrhythmia, Left bundle branch block, Facial palsy OMIM:610131
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Aspiration pneumonia, Left ventricular noncompaction, Tricuspid regurgita... OMIM:619167
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Camptodactyly, Flexion contracture, Pulmonary arterial hypertension, Prolonged QT interval OMIM:620029
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormal tric... ORPHA:90308
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Congenital Sialidosis Type 2
Abnormal EKG, Abnormal heart morphology, Ascites, Respiratory tract infection, Petechiae, Telangi... ORPHA:93400
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Left axis devia... OMIM:620294
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Cardiomegaly, Bicuspid aortic valve, Perica... OMIM:239850
Kearns-Sayre Syndrome
Third degree atrioventricular block, Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Death in infancy, Limb hypertonia, ... OMIM:620070
Poems Syndrome
Ascites, Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion, Edema ORPHA:2905
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Pulmonary hypoplasia, Neonatal death OMIM:245650
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Oligohydramnios, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Cerebral e... OMIM:617713
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Gitelman Syndrome
Hypotension, Palpitations, Rhabdomyolysis, Ventricular tachycardia, Prolonged QT interval OMIM:263800
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Emphysema, Ascites, Pulmonary ... ORPHA:538
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, Rhabdomyolysis, ST segment depression, Syncope, ... ORPHA:358
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... ORPHA:73224
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Camptodactyly, Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation OMIM:619576
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Ascites, Portal hypertension, Left ventricular hypertrophy, Pericardial ef... OMIM:619487
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ... ORPHA:392
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Arrhythmia, Distal arthrogryposis, Hepatomegaly ORPHA:42
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Alkuraya-Kucinskas Syndrome
Arthrogryposis multiplex congenita, Pleural effusion, Camptodactyly, Pericardial effusion, Edema OMIM:617822
Cardiogenic Shock
Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea... ORPHA:97292
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur ORPHA:99931
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom... OMIM:201475
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Hydrops fetalis, Atrial septal defect, Ascites OMIM:608776
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Dpagt1-Cdg
Anasarca, Intracranial hemorrhage, Prolonged QT interval, Camptodactyly, Flexion contracture, Pul... ORPHA:86309
Meckel Syndrome, Type 8
Pericardial effusion OMIM:613885
Marbach-Rustad Progeroid Syndrome
Ventricular septal hypertrophy, Right bundle branch block, Pulmonary insufficiency OMIM:619322
Refsum Disease
Skeletal muscle atrophy, Cardiomyopathy, Heart block ORPHA:773
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Nonimmune hydrops fetalis OMIM:618838
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Primary Intestinal Lymphangiectasia
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Edema ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Death in childhood, Death in infancy, Nonimmune hydrops fetalis, Prolonged prothr... OMIM:212065
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Periorbital edema, Joint contracture of the hand, Lymphedema, Pleural effusion, Ventricular septa... OMIM:235510
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Lymphedema ORPHA:3137
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Hypertrophic cardiomyopathy, Facial hypotonia, Shortened PR interval, Cardiomegaly,... ORPHA:308552
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Abnormal bleeding, Sinus tachycardia, Abnormal T-wave, Rhab... ORPHA:466650
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Aicardi-Goutieres Syndrome 7
Pneumonia, Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Oligohydramnios, Limb hypertoni... OMIM:615846
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Pleural effusion, Splenomegaly, Limb muscle weakness, Shortened ... OMIM:232300
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Hypertension, Left atrial enlargement, Pulmonary arteria... OMIM:614008
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Pneumothorax, A... OMIM:617403
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Polyhydramnios, Congenital diaphrag... ORPHA:373
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Oligohydramnios, Cardiomegaly, Camptodactyly of toe, Impaired ... ORPHA:158687
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion, Abnormal pulm... OMIM:181000
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Alg9-Cdg
Hypoplasia of the musculature, Abnormal lung lobation, Abnormal heart morphology, Tricuspid regur... ORPHA:79328
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H... ORPHA:99095
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ... OMIM:616897
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex ... OMIM:253310
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre... OMIM:212138
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure OMIM:619259
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitra... OMIM:617506
Rhizomelic Chondrodysplasia Punctata, Type 5
Sinus tachycardia, Skeletal muscle atrophy, Contractures of the large joints, Recurrent respirato... OMIM:616716
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Neonatal death, Nonimmune hydrops fetalis, Death in adolescence, Polyh... OMIM:620014
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Joint swell... ORPHA:465508
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Pleural effusion, Peric... ORPHA:167
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis ORPHA:79444
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... OMIM:106700
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Oligohydramnios, Knee f... OMIM:617402
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ascites, Oligohydramnios, Ventricular septal defect, Nonimm... OMIM:617021
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... OMIM:614921
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension, Calcinosis ORPHA:79443
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly,... OMIM:268800
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia, Second degree atrioventricular block, Complete atrioventricular canal defec... OMIM:617063
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility OMIM:262850
Cap Myopathy
Increased variability in muscle fiber diameter, Sinus tachycardia, Lower limb muscle weakness, Mi... ORPHA:171881
Myotonic Dystrophy 1
Atrial flutter, Facial diplegia, Polyhydramnios, First degree atrioventricular block, Atrial fibr... OMIM:160900
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip tela... ORPHA:79280
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block ORPHA:228308
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Bicuspid aortic valve, Tachycardia, Muscle hypertrophy of the lower extrem... ORPHA:1772
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Hennekam Syndrome
Chylothorax, Camptodactyly of finger, Lymphedema, Ascites, Pulmonary lymphangiectasia, Pericardia... ORPHA:2136
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly OMIM:603903
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Developmental And Epileptic Encephalopathy 111
Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Premature ventricular contr... OMIM:620504
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Amyloidosis, Hereditary Systemic 1
Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema, Cardiomegaly, Cardiomyopathy OMIM:105210
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Primary Hyperoxaluria
Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block ORPHA:416
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology, Umbilical hernia ORPHA:1517
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Oligohydramnios, Ventricular septal defect, Cardi... OMIM:617022
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... OMIM:620300
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Limb hypertonia OMIM:620306
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Fucosidosis
Cardiomegaly, Hepatomegaly, Decreased muscle mass ORPHA:349
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Supraventricular arr... ORPHA:91347
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac... ORPHA:464343
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Ascites, Hepatosplenomegaly, Petechiae, Splenomegaly, Nonimmu... OMIM:608013
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage, Edema ORPHA:624
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bruising susceptibility, Transient ischemic attack, Ischemic stroke, Cardio... ORPHA:91387
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Facial telangiectasia, Sp... OMIM:602782
Aymé-Gripp Syndrome
Camptodactyly, Pericardial effusion, Congenital diaphragmatic hernia, Pericarditis ORPHA:1272
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elbow flexion contracture, Oligohydramnios, Increased muscle lipid conten... OMIM:608836
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Generalized edema, Pulmonary embolism, Budd-Chiari syndrome, Ascites, Recurrent lower respiratory... OMIM:226300
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Ascites, Left ventricular systolic dysfunction, Transient ischemic attac... ORPHA:51608
Mogs-Cdg
Generalized edema, Hepatosplenomegaly, Pulmonary edema, Cardiomegaly, Left ventricular hypertroph... ORPHA:79330
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Pulmonary embolism, Edema, Anasarca, Ascites, Pleural effusion, Respiratory tract i... ORPHA:567546
Sarcoidosis
Chylothorax, Emphysema, Abnormal pleura morphology, Portal hypertension, Pleural effusion, Joint ... ORPHA:797
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Lymphedema, Bicuspid aortic valve, Atrial septal defect, Prolonged QT int... ORPHA:99413
Turner Syndrome
Hypoplastic left heart, Lymphedema, Bicuspid aortic valve, Atrial septal defect, Prolonged QT int... ORPHA:881
Mosaic Monosomy X
Hypoplastic left heart, Lymphedema, Bicuspid aortic valve, Atrial septal defect, Prolonged QT int... ORPHA:99228
Monosomy X
Hypoplastic left heart, Lymphedema, Bicuspid aortic valve, Atrial septal defect, Prolonged QT int... ORPHA:99226
Lyme Disease
Arrhythmia, Joint swelling, Atrioventricular block ORPHA:91546
Myhre Syndrome
Aortic valve stenosis, Skeletal muscle hypertrophy, Ventricular septal defect, Hypertension, Atri... OMIM:139210
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Pulmonary hypoplasia, Pulmonary artery atresia, Congestive heart failure,... ORPHA:99050
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Bruising susceptibility, Mitral valve prolapse ORPHA:536532
Idiopathic Steroid-Resistant Nephrotic Syndrome
Periorbital edema, Pulmonary embolism, Respiratory tract infection, Edema ORPHA:567548
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Abnormal EKG, Syncope, Orthostatic hypotension, Dehydration ORPHA:230
Meacham Syndrome
Hypoplastic left heart, Pulmonary hypoplasia, Aplasia of the right hemidiaphragm, Tetralogy of Fa... OMIM:608978
Kearns-Sayre Syndrome
Arrhythmia, Third degree atrioventricular block, Ragged-red muscle fibers, Cardiomyopathy OMIM:530000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Macroglossia, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Transient isch... ORPHA:365
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Lymphoid Interstitial Pneumonia
Subpleural interstitial thickening, Pulmonary venous hypertension, Respiratory tract infection, M... ORPHA:79128
Cartilage-Hair Hypoplasia
Cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal cardiac septum mor... ORPHA:175
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Noonan Syndrome
Abnormal bleeding, Bruising susceptibility, Abnormal EKG, Hypertrophic cardiomyopathy, Lymphedema... ORPHA:648
Diffuse Alveolar Hemorrhage
Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT, Pulmonary venous hypertension ORPHA:90060
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Pulmonary arterial hypertension, Pedal... ORPHA:228116
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Macroglossia, Myelopathy, Congestive heart failure, Hypertrophic cardiomyop... OMIM:252500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Oligohydramnios, Portal hypertension, Neonatal death, Hematemesis, Hypertension, Dehydration, Pul... OMIM:263200
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Developmental And Epileptic Encephalopathy 95
Umbilical hernia, Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogr... OMIM:618143
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... ORPHA:99094
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... ORPHA:95430
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Oligohydramnios, Ventricular septal defect, Cardiomegaly, Hepatomegaly, Macrogl... ORPHA:96191
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Purpura, Pulmonary embolism ORPHA:743
Fucosidosis
Bruising susceptibility, Petechiae, Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexi... OMIM:230000
Lymphatic Malformation 13
Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Neonatal death, Nonimmune hydrop... OMIM:620244
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia... OMIM:130650
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... OMIM:245600
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Anasarca, Biventricular hypertrophy,... OMIM:619573
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Aspiration pneumonia, Rhabdomyolysis, Arrhy... ORPHA:94093
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Leptospirosis
Hypotension, Pulmonary hemorrhage, Pleural effusion, Rhabdomyolysis, Arrhythmia, First degree atr... ORPHA:509
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Mucopolysaccharidosis Type 3
Atrioventricular block, Umbilical hernia, Reduced left ventricular ejection fraction, Splenomegal... ORPHA:581
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage... OMIM:620371
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Tricuspid regurgitation, Emphysema, Oligo... OMIM:614437
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Facial hypotonia, De... ORPHA:2131
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Angioedema, Congestive heart... ORPHA:3260
Melas
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... ORPHA:550
Abetalipoproteinemia
Abnormal bleeding, Congestive heart failure, Myopathy, Cardiomegaly, Distal lower limb muscle wea... ORPHA:14
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Emphysema, Arteri... OMIM:130050
Bohring-Opitz Syndrome
Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Facial hyp... ORPHA:97297
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Myocardial necrosis, Respiratory tract infection, Arrhythmia, Cerebral edema, Facial p... ORPHA:68
Dermatomyositis
Vasculitis, Periorbital edema, Sinus tachycardia, Inflammatory myopathy, Lung adenocarcinoma, Myo... ORPHA:221
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Ogden Syndrome
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Premature ventricular contraction... OMIM:300855
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Limb h... ORPHA:444072
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Melena, Hypertension, Dehydration ORPHA:652
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Dehydr... OMIM:259900
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Polycythemia Vera
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Bruising susceptib... ORPHA:729
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Periorbital edema, Hydrops fetalis,... OMIM:620376
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Pmm2-Cdg
Anasarca, Aspiration pneumonia, Hypertrophic cardiomyopathy, Lymphedema, Multiple joint contractu... ORPHA:79318
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Myosi... ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Congestive heart failure, Camptodactyly of finger, Elbow flexion contrac... OMIM:256040
Mitochondrial Dna-Associated Leigh Syndrome
Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-red m... ORPHA:255210
Hereditary Hemorrhagic Telangiectasia
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Spontaneous hematomas, Tongue telangi... ORPHA:774
Beckwith-Wiedemann Syndrome
Visceromegaly, Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Polyhydramnios, Spl... ORPHA:116
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Dilated cardiomyopathy, Skeletal muscle atrophy, Distal amyotro... ORPHA:273
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... OMIM:182250
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... ORPHA:391665
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Increased nuchal translucency, Ventricular septal defect, Ca... ORPHA:3472
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Liver Disease, Severe Congenital
Umbilical hernia, Ascites, Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ova... OMIM:619991
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Pneumonia, Abnormal heart morphology, Cardiac conduction abnormality, Vent... ORPHA:353281
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic... ORPHA:904
Pearson Syndrome
Cardiomyopathy, Abnormal heart morphology, Cardiac conduction abnormality, Corneal stromal edema,... ORPHA:699
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Hypoplasia of deltoid muscle, Mitral valve p... OMIM:142900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Pneumonia, Abnormal heart morphology, Cardiac conduction abnormality, Pate... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Pneumonia, Abnormal heart morphology, Cardiac conduction abnormality, Pate... ORPHA:353277
Multiple Osteochondromas
Pneumothorax, Hemothorax ORPHA:321
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Shwachman-Diamond Syndrome 1
Myocardial necrosis OMIM:260400
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464

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 Hopx

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 Hopx.

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

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MGI Allele Allele Type Produced
Hopxtm401422(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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