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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h... ORPHA:98912
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia ORPHA:1479
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Pulmonary edema, Abnormal bleeding, Fourth heart sound, Prolo... ORPHA:57777
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Death in middle age, Left ventricular outflow tract obstruction, Right ... OMIM:613251
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Bronchitis, Patent foramen ovale, Pulmonary art... OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... ORPHA:254361
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Hydrops Fetalis
Polyhydramnios, Capillary leak, Miscarriage, Lymphedema, Pleural effusion, Ascites, Generalized e... ORPHA:1041
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Muscle fiber hyaline bodies, Type 1 muscle fiber pr... OMIM:255160
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Scapular winging, Scapuloperoneal myopathy, Myofibrillar myopathy, For... OMIM:300695
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Myofibrillar Myopathy 10
Ankle flexion contracture, Knee flexion contracture, Prolonged QTc interval, Elbow flexion contra... OMIM:619040
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca... ORPHA:263297
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul... ORPHA:206559
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Death in... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary... ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio... OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy, Right bundle branch block OMIM:613158
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, Anasarca, T-wave inver... OMIM:261740
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Atrial septal defect, Prolonged QT interval, Noncompaction cardiomyopat... OMIM:610198
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Prolonged QT interval, Hypoglycosylation of ... OMIM:615351
Rigid Spine Syndrome
Elbow flexion contracture, Hamstring contractures, Hip contracture, Cardiac conduction abnormalit... ORPHA:97244
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... ORPHA:563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Long Qt Syndrome 3
Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib... OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Tachycardia, Patent foramen ovale, Ventricular fibri... ORPHA:26793
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Unroofed coronary sinus, Increased pulmonary vascular resistance, Supraventricular ar... ORPHA:99104
Cardiomyopathy, Familial Hypertrophic, 2
Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri... OMIM:115195
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Neonatal Lupus Erythematosus
Abnormal bleeding, Heart block, Prolonged QT interval, Abnormal heart morphology, Arrhythmia, Atr... ORPHA:398124
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Familial Atrial Myxoma
Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Ascites, Tricuspid regurgitatio... ORPHA:615
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Acute Interstitial Pneumonia
Peripheral edema, Atelectasis, Hypertension, Pleural effusion, Bronchiectasis, Pericardial effusi... ORPHA:79126
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Pedal e... ORPHA:199241
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Atrioventricular canal defect, Cardiome... ORPHA:3092
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr... ORPHA:251274
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa... OMIM:620135
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Hydrops fetalis, Reduced left ventric... ORPHA:45452
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Prolonged QRS complex, Cardio... ORPHA:75565
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Drug-Induced Lupus Erythematosus
Petechiae, Pericarditis, Pericardial effusion, Prolonged QTc interval ORPHA:231111
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Nephrosialidosis
Pericardial effusion, Death in childhood, Ascites OMIM:256150
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro... OMIM:611705
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Left-to-right shunt, Hypoplasia of the diaphragm, Abn... ORPHA:185
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Congestive heart failure, Pedal edem... ORPHA:330001
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Prolonged QT interval, Bradycardia, Atrial fibrillation, Skeletal muscle hype... OMIM:613327
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricula... ORPHA:216694
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Cocaine Intoxication
Pneumothorax, Pulmonary edema, Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmi... ORPHA:90068
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Emphysema, Abnormal heart valve morphology, Pleural effusion, Ascites, A... ORPHA:36412
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Heart block, Premature ventricular contraction ORPHA:1964
Interatrial Communication
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Atrophoderma Vermiculata
Heart block ORPHA:79100
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Palpebral edema, Calcinosis, Angina pectoris, Vasculitis, Myositis, ... ORPHA:93672
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension, Neonatal death, Nonimmune hydrops fetalis, Pulmo... OMIM:619003
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Bradycardia, Nemaline bodies, Death in infancy, Increased variability in musc... OMIM:620265
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Congenital-Onset Steinert Myotonic Dystrophy
Polyhydramnios, Facial hypotonia, Bundle branch block, First degree atrioventricular block, Abnor... ORPHA:589821
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Muscular ede... ORPHA:268
Familial Isolated Restrictive Cardiomyopathy
Peripheral edema, Pulmonary edema, Left atrial enlargement, Atrial fibrillation, Supraventricular... ORPHA:75249
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Congenital Enterovirus Infection
Myocarditis, Abnormal bleeding, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Pleural effusion... ORPHA:292
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Generalized amyotrophy, Abnormal EKG, Lower limb hypertonia, Lower limb muscle weakness ORPHA:1177
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Pericardial effusion, Pleural effusion, Pneumothorax ORPHA:411703
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Cerebral ischemia, Myocardial infarction, Abnormal onset of bleeding ORPHA:3325
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Ascites, Splenomegaly, Cardiomegaly OMIM:269920
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Atrioventricular canal defect, Abnormal pulmonary valve morpholo... ORPHA:500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ragged-red muscle fibers, Right bundle branch block, Skeletal muscle atrophy, Lower limb muscle w... OMIM:616479
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor... ORPHA:363705
Ethylene Glycol Poisoning
Pulmonary edema, Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertensi... ORPHA:31826
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Prolonged QT interval, Generalized amyotrophy, Diaphragmatic ... ORPHA:66634
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Congenital Myopathy 24
Facial palsy, Cardiomyopathy, Nemaline bodies, Scapular winging, First degree atrioventricular bl... OMIM:617336
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Pleural... ORPHA:542323
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat... ORPHA:98909
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Miscarriage, Pulmonary embolism ORPHA:82
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Reduced muscle carnitine level, Cardiomyopathy, Dehydrati... OMIM:212140
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effusion ORPHA:846
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Acute rhabdomyolysis, Prolonged QT interval, EMG: myopathic abnormalities, Arrhythmia, Abnormal EKG ORPHA:480864
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... OMIM:612422
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Pleural effusion, Abnormal lung morphology, Pericardial e... ORPHA:464329
Fabry Disease
Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Emph... ORPHA:324
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Scorpion Envenomation
Myocarditis, Pulmonary edema, Congestive heart failure, Purpura, Prominent U wave, Hypertension, ... ORPHA:466677
Hemochromatosis, Type 1
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Ascites, Pleural effusion, Splenomegaly, ... OMIM:235200
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Peripheral edema, Hepatomegaly, Reduced left ventricular ejection... ORPHA:1677
Rett Syndrome
Prolonged QTc interval, Skeletal muscle atrophy, Abnormal T-wave OMIM:312750
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c... OMIM:619051
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Pulmonary arterial hypertension, Pulmonary venous occlusion, In... OMIM:265450
Neuraminidase Deficiency
Hepatomegaly, Hydrops fetalis, Cardiomyopathy, Ascites, Splenomegaly, Skeletal muscle atrophy, Ca... OMIM:256550
Pediatric Systemic Lupus Erythematosus
Myositis, Pleural effusion, Ascites, Pericardial effusion, Raynaud phenomenon, Edema ORPHA:93552
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Gastrointestinal hemorrhage, Abnormal cardiac ventric... ORPHA:85443
Absence Of The Pulmonary Artery
Abnormal heart morphology, Cardiomegaly, Abnormal cardiac septum morphology, Patent foramen ovale... ORPHA:980
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Ventricular se... OMIM:618652
Eisenmenger Syndrome
Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Abn... ORPHA:97214
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Histiocytoid Cardiomyopathy
Pulmonary edema, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardio... ORPHA:137675
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Ascites, Pericardial constriction, Myoca... OMIM:253250
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Ca... OMIM:300280
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventri... OMIM:616878
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyo... ORPHA:71212
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Scapular winging, Syncope, Palpi... OMIM:170390
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Muscular dystrophy, Knee flexion contracture, Calf muscle pseudohypertr... OMIM:310200
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Myotonic Dystrophy 2
Right bundle branch block, Premature ventricular contraction, Sternocleidomastoid amyotrophy, Gen... OMIM:602668
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly OMIM:266500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pleural effusion, Ascites, Death in infancy, Pericardial effusion, Hematochezia, ... OMIM:618183
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left v... ORPHA:1457
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveol... ORPHA:99827
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Ven... OMIM:618775
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve... ORPHA:1686
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu... OMIM:620609
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Abnormal heart morphology, Abnormal... ORPHA:1666
Q Fever
Myocarditis, Abnormal pulmonary interstitial morphology, Purpura, Vasculitis, Abnormal heart valv... ORPHA:781
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intramuscular hematoma, Gingival bleeding, Abnormal umbilical stump bleeding, ... ORPHA:79
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema... OMIM:620247
Stuve-Wiedemann Syndrome 2
Stillbirth, Congestive heart failure, Death in adolescence, Pulmonary arterial hypertension, Camp... OMIM:619751
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Hydrops fetalis, Abnormal heart valve morphology, Pul... ORPHA:77261
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Ascites ORPHA:858
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Lower limb muscle weakness, Ventricular fibrillation, Rhabdomyolysis, Incr... ORPHA:79102
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Pulmonary Arteriovenous Malformation
Ischemic stroke, Abnormal bleeding, Myocardial infarction, Bacterial endocarditis, Pleural empyem... ORPHA:2038
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Left bundle branch block, Facial palsy, Limb muscle weakness, Arrhythmia OMIM:610131
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Aspiration pneumonia, Tricuspid regu... OMIM:619167
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Camptodactyly, Prolonged QT interval, Flexion contracture, Pulmonary arterial hypertension OMIM:620029
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Aortic valve c... ORPHA:3093
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Abnormal pulmonary interstitial m... ORPHA:732
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Congenital Sialidosis Type 2
Petechiae, Ascites, Abnormal heart morphology, Respiratory tract infection, Edema, Abnormal EKG, ... ORPHA:93400
Congenital Heart Defects, Multiple Types, 9
Transposition of the great arteries, Single ventricle of indeterminate morphology, Miscarriage, T... OMIM:620294
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Congenital hypertrophy of left ventricle... OMIM:239850
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Third degree atrioventricular block, Skeletal muscle atrophy ORPHA:480
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, Death in infancy, Multiple muscular ventricular septal defects, ... OMIM:620070
Poems Syndrome
Pleural effusion, Ascites, Pulmonary arterial hypertension, Pericardial effusion, Edema ORPHA:2905
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:245650
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Cardiac arrest, Cerebral edema, Left ventricular hypertrophy, Cardi... OMIM:617713
Gitelman Syndrome
Prolonged QT interval, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Palpitations OMIM:263800
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Gitelman Syndrome
Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven... ORPHA:358
Lymphangioleiomyomatosis
Pneumothorax, Gastrointestinal hemorrhage, Atelectasis, Emphysema, Recurrent respiratory infectio... ORPHA:538
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Camptodactyly, Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation OMIM:619576
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Congestive heart failure, Pericardial effusion, Dilated cardiomyopathy, Sudden c... ORPHA:73224
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Hypertension, Ascites, Portal hypertension, Pericarditis, Pericardial e... OMIM:619487
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Dextrocardia, Scimitar anomaly, Coronary sinus enlar... OMIM:618280
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Pulmonary artery atresia, Left ventricular hypertrophy, Secundum atrial sept... OMIM:108900
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Ventricular septal defect, Atriove... ORPHA:392
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Skeletal muscle atrophy, Arrhythmia, Cardiomegaly, Myopathy ORPHA:42
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Alkuraya-Kucinskas Syndrome
Pleural effusion, Camptodactyly, Pericardial effusion, Edema, Arthrogryposis multiplex congenita OMIM:617822
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage ORPHA:99931
Dpagt1-Cdg
Prolonged QT interval, Camptodactyly, Pulmonary hypoplasia, Flexion contracture, Intracranial hem... ORPHA:86309
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:261
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Exercise-i... OMIM:201475
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98853
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect, Hydrops fetalis, Ascites OMIM:608776
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Right bundle branch block, Ventricular septal hypertrophy OMIM:619322
Refsum Disease
Heart block, Cardiomyopathy, Skeletal muscle atrophy ORPHA:773
Meckel Syndrome, Type 8
Pericardial effusion OMIM:613885
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Nonimmune hydrops fetalis OMIM:618838
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation ORPHA:229
Primary Intestinal Lymphangiectasia
Pleural effusion, Ascites, Generalized edema, Pericardial effusion, Edema ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Death in childhood, Cardiomyopathy, Death in infancy, Pericarditis, P... OMIM:212065
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Pleural lymphangiectasia, Lymphedema, Pleural effusion, Camptodacty... OMIM:235510
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Neonatal death, Secundum atrial septal defect, Reduced left v... OMIM:620203
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Lymphedema ORPHA:3137
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive... ORPHA:308552
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Death in childhood, Gingival bleeding, Death... OMIM:202400
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension... ORPHA:466650
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri... OMIM:178600
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology OMIM:601612
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Aicardi-Goutieres Syndrome 7
Hematemesis, Recurrent lower respiratory tract infections, Limb hypertonia, Vasculitis, Hypertens... OMIM:615846
Glycogen Storage Disease Ii
Increased muscle glycogen content, Hepatomegaly, Wolff-Parkinson-White syndrome, Right axis devia... OMIM:232300
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary ar... OMIM:614008
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Pulmonary arterial hypertension, Tr... ORPHA:275766
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction OMIM:208000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Cutis Laxa, Autosomal Recessive, Type Iid
Pneumothorax, Congestive heart failure, Atrial septal defect, Right bundle branch block, Hypertro... OMIM:617403
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Prolonged QT interval, Cardiomyopathy, Death in ... ORPHA:373
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardi... ORPHA:158687
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated bronchoalveolar... OMIM:181000
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary... OMIM:620642
Alg9-Cdg
Abnormal lung lobation, Atrial septal defect, Hydrops fetalis, Torticollis, Abnormal left ventric... ORPHA:79328
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Flexion ... OMIM:616897
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Neonatal death, Pulmonary hypoplasia, Skeletal muscle atrophy, Ede... OMIM:253310
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness OMIM:619259
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Rhizomelic Chondrodysplasia Punctata, Type 5
Contractures of the large joints, Recurrent respiratory infections, Sinus tachycardia, Skeletal m... OMIM:616716
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Patent foramen ovale, Right bundle branch block, Tricuspid regurgitation, Hypertr... OMIM:617506
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Hypotension, Premature vent... OMIM:212138
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Prolonged QT interval ORPHA:529962
Leopard Syndrome 1
Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Bundle branch block, Mitral val... OMIM:151100
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Pulmonary arterial hypertension, Death in infancy, Neona... OMIM:265120
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Lymphatic Malformation 12
Polyhydramnios, Pleural thickening, Lymphedema, Death in adolescence, Recurrent upper and lower r... OMIM:620014
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Hepatomegaly, Elevated jugular venous pressure, Cardiomyopathy, Portal ... ORPHA:465508
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Hypertension, Pulmonary arterial hypertension OMIM:613320
Chédiak-Higashi Syndrome
Abnormal bleeding, Pleural effusion, Gingival bleeding, Pericardial effusion, Epistaxis, Edema, B... ORPHA:167
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval ORPHA:79444
Cutis Laxa, Autosomal Recessive, Type Iic
Pneumothorax, Aortic regurgitation, Patent foramen ovale, Right bundle branch block, Tricuspid re... OMIM:617402
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonar... OMIM:106700
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Friedreich Ataxia
Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ascites, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Overriding aor... OMIM:617021
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Hepatomegaly, Tachycardia, Pulmonary arterial hypertension, Aborted s... OMIM:614921
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypertension, Prolonged QT interval ORPHA:79443
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly,... 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
Heart block, Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect, Complete atri... OMIM:617063
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Cap Myopathy
Lower limb amyotrophy, Sinus tachycardia, Facial palsy, Reduced systolic function, Increased vari... ORPHA:171881
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Myotonic Dystrophy 1
Polyhydramnios, Atrial flutter, Atrial fibrillation, Facial diplegia, First degree atrioventricul... OMIM:160900
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Lip telangiectasia, Lymphedema, Telangiectasia of the skin, Ca... ORPHA:79280
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extremities, Prolonged QT int... ORPHA:1772
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia, Cardiomegaly ORPHA:228308
Hennekam Syndrome
Hydrops fetalis, Chylothorax, Lymphedema, Ascites, Pericardial effusion, Camptodactyly of finger,... 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
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Pulmonary edema, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Developmental And Epileptic Encephalopathy 111
Hypertension, Sinus tachycardia, Premature ventricular contraction, Pulmonary artery stenosis, Re... OMIM:620504
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Primary Hyperoxaluria
Heart block, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Arterial occlusion ORPHA:416
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Umbilical hernia ORPHA:1517
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Torticollis, Ventricular septal defect, Increased variability in muscle fiber di... OMIM:617022
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Death in infancy, Neonatal death, Cerebral hemorrhage, Left... OMIM:620300
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Tricuspid regurgitation, Limb hypertonia OMIM:620306
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Trans... OMIM:306955
Fucosidosis
Cardiomegaly, Decreased muscle mass, Hepatomegaly ORPHA:349
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff... ORPHA:91347
Catastrophic Antiphospholipid Syndrome
Myocarditis, Myocardial infarction, Angina pectoris, Abnormal heart valve morphology, Miscarriage... ORPHA:464343
Gaucher Disease, Perinatal Lethal
Purpura, Hepatomegaly, Polyhydramnios, Petechiae, Ascites, Neonatal death, Hepatosplenomegaly, Sp... OMIM:608013
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Intracranial hemorrhage, Arrhythmia ORPHA:624
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Cardiomegaly, Aortic regurgitation, Hypertension, Transient ischemic attack, Hyp... ORPHA:91387
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of toe, Joint contracture of the 5th finger, Elbow flexion cont... OMIM:602782
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis, Congenital diaphragmatic hernia, Camptodactyly ORPHA:1272
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Antenatal intracerebral hemorrhage, Elbow flexion contracture, Arr... OMIM:608836
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Recurrent lower respiratory tract infections, Ascites, Budd-Chiari syndrome, Generalized edema, E... OMIM:226300
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Mogs-Cdg
Pulmonary edema, Hepatomegaly, Polyhydramnios, Generalized edema, Hepatosplenomegaly, Left ventri... ORPHA:79330
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hydrops fetalis, Polyhydramnios, Hypertension, Weak pulse,... ORPHA:51608
Sarcoidosis
Pneumothorax, Heart block, Emphysema, Chylothorax, Abnormal cardiac ventricular function, Abnorma... ORPHA:797
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Hypertension, Pleural effusion, Ascites, Respiratory tract infection, Edema, Ana... ORPHA:567546
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Lymphedema, Bicuspid aortic valve, Atrial septal defect, Myo... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Hypertension, Lymphedema, Bicuspid aortic valve, Atrial septal defect, Myo... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Lymphedema, Bicuspid aortic valve, Atrial septal defect, Myo... ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Lymphedema, Bicuspid aortic valve, Atrial septal defect, Myo... ORPHA:99226
Lyme Disease
Atrioventricular block, Joint swelling, Arrhythmia ORPHA:91546
Myhre Syndrome
Skeletal muscle hypertrophy, Hypertension, Camptodactyly, Aortic valve stenosis, Pericardial effu... OMIM:139210
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Small hypothenar eminence, Mu... ORPHA:2463
Truncus Arteriosus
Pulmonary edema, Transposition of the great arteries, Aortic regurgitation, Tachycardia, Abnormal... ORPHA:3384
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Transpo... ORPHA:99050
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Bruising susceptibility, Mitral valve prolapse ORPHA:536532
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Idiopathic Steroid-Resistant Nephrotic Syndrome
Edema, Pulmonary embolism, Respiratory tract infection, Periorbital edema ORPHA:567548
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Death in childhood, Cardiac total anomalous pulm... OMIM:608978
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, Left ventricular... ORPHA:365
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Orthostatic syncope, Dehydration, Syncope, Abnormal EKG ORPHA:230
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Absent outer dynein arms, Atelectasis, Dextrocardia, Pulmonary arterial h... OMIM:615067
Lymphoid Interstitial Pneumonia
Bronchiectasis, Respiratory tract infection, Raynaud phenomenon, Pulmonary fibrosis, Multiple pul... ORPHA:79128
Cartilage-Hair Hypoplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Heart block, Cardiomyopathy, Abnormal cardi... ORPHA:175
Noonan Syndrome
Abnormal bleeding, Aplasia/Hypoplasia of the abdominal wall musculature, Lymphedema, Hypertrophic... ORPHA:648
Atrial Septal Defect 1
Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu... OMIM:108800
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Irregular septal thickening on pulmonary HRCT, Pulmonary fibrosis ORPHA:90060
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Pulmonary arterial hypertension, Pulmonary embolism, Pedal... ORPHA:228116
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Hypertension, Mitral valve prolapse, Atrioventricular block, Atrial septal... ORPHA:371428
Mucolipidosis Ii Alpha/Beta
Congestive heart failure, Enlarged kidney, Hepatomegaly, Palpebral edema, Aortic regurgitation, D... OMIM:252500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Hypertension, Dehydration, Portal hypertension, Neonatal death, Pulmonary hypoplasia... OMIM:263200
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary ... OMIM:265380
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Arthrogryposis multiplex congenita, Umbilical hernia, ... OMIM:618143
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano... ORPHA:99094
Congenital Tracheomalacia
Pulmonary arterial hypertension, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalou... ORPHA:95430
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Dehydration, Umbilical hernia, Cardiomegaly, Macroglossi... ORPHA:96191
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Purpura, Pulmonary embolism ORPHA:743
Fucosidosis
Hepatomegaly, Petechiae, Generalized amyotrophy, Splenomegaly, Flexion contracture, Cardiomegaly,... OMIM:230000
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Diastasis recti, Pancreatic hyperplasia, Cardiomeg... OMIM:130650
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Cardiomegaly, Patent foramen ovale, Elbow flexion contracture, M... OMIM:245600
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Atrioventricular canal defect, Hypertension, Pleural effusion, Ascites, Pul... OMIM:619573
Neuroleptic Malignant Syndrome
Bradycardia, Hypertension, Dehydration, Hypertensive crisis, Aspiration pneumonia, Hypotension, R... ORPHA:94093
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... OMIM:187300
Leptospirosis
Pleural effusion, Hypotension, Retinal hemorrhage, Pericarditis, Rhabdomyolysis, Subconjunctival ... ORPHA:509
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Reduced left ventricular ejection fraction, Umbil... ORPHA:581
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Vitreous hemorrhage, Hydrops fetalis, Limb hypertonia, Hydranencephaly, Patent foramen ovale, Ret... OMIM:620371
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiomyopathy, Dehydration, Cardiac conduction abnormality, Arrhythmia, Abnorm... ORPHA:2131
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary insufficiency, Pulmonary artery aneurysm, Death in chi... OMIM:614437
Idiopathic Hypereosinophilic Syndrome
Congestive heart failure, Myocardial eosinophilic infiltration, Supraventricular arrhythmia, Pleu... ORPHA:3260
Melas
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers,... ORPHA:550
Abetalipoproteinemia
Prolonged prothrombin time, Congestive heart failure, Distal lower limb muscle weakness, Hepatome... ORPHA:14
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Arterial rupture, Spontaneous ... OMIM:130050
Bohring-Opitz Syndrome
Facial hypotonia, Bradycardia, Bilateral wrist flexion contracture, Congenital contracture, Lower... ORPHA:97297
Dermatomyositis
Myocarditis, Abnormal pulmonary interstitial morphology, Inflammatory myopathy, Periorbital edema... ORPHA:221
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Behçet Disease
Gastrointestinal hemorrhage, Aortic regurgitation, Pleuritis, Myositis, Vasculitis, Pleural effus... ORPHA:117
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Premature ventricular contraction, Umbilical hernia, Ca... OMIM:300855
Cerebellar-Facial-Dental Syndrome
Limb hypertonia, Foot joint contracture, Mitral valve prolapse, Ventricular septal defect, Abnorm... ORPHA:444072
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Multiple Endocrine Neoplasia Type 1
Hematemesis, Melena, Hypertension, Dehydration, Shortened QT interval ORPHA:652
Hyperoxaluria, Primary, Type I
Dehydration, Intermittent claudication, Raynaud phenomenon, Atrioventricular block, Arterial occl... OMIM:259900
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Gingival bleeding, Budd-Chiari syndro... ORPHA:729
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Purpura, Hepatomegaly, Hydrops fetalis, Hepatosplenomegaly, Splenomegaly... OMIM:620376
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Pmm2-Cdg
Angina pectoris, Lymphedema, Hypertrophic cardiomyopathy, Aspiration pneumonia, Pericarditis, Per... ORPHA:79318
Aicardi-Goutières Syndrome
Myositis, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Raynaud phenomenon, Cardiomegaly, Mult... ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Hepatomegaly, Flexion contracture of toe, Elbow flexion contracture, Ca... OMIM:256040
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Dilated cardiomyopathy, Cardiac conduction abnormality, Hypertrophic ca... ORPHA:255210
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Congestive heart failu... ORPHA:774
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Rhabdomyosarcoma, Enlarged kidney, Hepatomegaly, Leiomyosarcoma,... ORPHA:116
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Polyhydramnios, Abnormality of masticatory muscle, Weaknes... ORPHA:273
Singleton-Merten Syndrome 1
Congestive heart failure, Pleural effusion, Mitral valve calcification, Aortic valve stenosis, Te... OMIM:182250
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Angina pectoris, Hypertension, Mitral regurgita... ORPHA:391665
Yunis-Varon Syndrome
Hydrops fetalis, Polyhydramnios, Hypertension, Cardiomyopathy, Pulmonary arterial hypertension, I... ORPHA:3472
African Trypanosomiasis
Myocarditis, Congestive heart failure, Miscarriage, Pericarditis, Arrhythmia, Third degree atriov... ORPHA:3385
Liver Disease, Severe Congenital
Left atrial enlargement, Pulmonary edema, Hepatomegaly, Patent foramen ovale, Ascites, Systolic h... OMIM:619991
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Cardiac co... ORPHA:353281
Williams Syndrome
Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral valve prolapse, Umbilical hernia, Card... ORPHA:904
Pearson Syndrome
Hydrops fetalis, Corneal stromal edema, Cardiomyopathy, Dehydration, Abnormal heart morphology, C... ORPHA:699
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Small thenar eminence, Pulmonic stenosis, Mitral valve pr... OMIM:142900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Atrial septal defect, Polyhydramnios, Patent foramen ovale, Aortic valve s... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Atrial septal defect, Polyhydramnios, Patent foramen ovale, Aortic valve s... ORPHA:353277
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Multiple Osteochondromas
Pneumothorax, Hemothorax ORPHA:321
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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