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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
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Congenital Heart Block
Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Congestive he... ORPHA:60041
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi... OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, R... ORPHA:171445
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, Type 1 muscle fib... OMIM:255160
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Dyspnea, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... ORPHA:254361
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Ventricula... OMIM:601005
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Cirrhotic Cardiomyopathy
Prolonged QT interval, Abnormal bleeding, Elevated jugular venous pressure, Left atrial enlargeme... ORPHA:57777
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capilla... ORPHA:1041
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... OMIM:608758
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t... OMIM:612098
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu... OMIM:613243
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... ORPHA:2414
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... ORPHA:563
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Pneumonia, Cardiac conduction abnormality, Abnormality ... ORPHA:97244
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... OMIM:614702
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop... OMIM:113900
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Prolonged QT interval, Tachycardia, Ventri... ORPHA:26793
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Right bundle branch block, Muscular dystrophy OMIM:613158
Primary Effusion Lymphoma
Pericardial effusion, Dyspnea, Pleural effusion ORPHA:48686
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Nathalie Syndrome
Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... OMIM:615351
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... ORPHA:45452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Neonatal Lupus Erythematosus
Prolonged QT interval, Abnormal bleeding, Heart block, Dilated cardiomyopathy, Atrioventricular b... ORPHA:398124
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... ORPHA:411703
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Dyspnea, Prolonged QTc interval, Petechiae ORPHA:231111
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Muscular dystrophy OMIM:309930
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Dyspnea, Effort-indu... ORPHA:3282
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Weakness of facial musculat... OMIM:620265
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypopla... ORPHA:185
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr... ORPHA:2041
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Dyspnea, Angioedema, Emphysema, Small vess... ORPHA:36412
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... ORPHA:90068
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... OMIM:310300
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... 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
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect... ORPHA:93672
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardiomegaly, Perica... ORPHA:555874
Nephrosialidosis
Pericardial effusion, Ascites, Death in childhood OMIM:256150
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... ORPHA:2299
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... ORPHA:330001
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Neonatal respiratory distress, Facial hypotonia, First degree atrioventricul... ORPHA:589821
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia, N... OMIM:619003
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Myopathy, Myofibrillar, 1
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Hypertrop... OMIM:601419
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Left a... ORPHA:75249
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Cerebral ischemia, Myocardial infarction, Pulmonary embolism ORPHA:3325
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Respiratory insufficiency, Right bundle branch... OMIM:616479
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Congenital Enterovirus Infection
Respiratory distress, Abnormal bleeding, Polyhydramnios, Fetal ascites, Pericardial effusion, Myo... ORPHA:292
Congenital Myopathy 24
Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricular block, Card... OMIM:617336
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... ORPHA:542323
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Abnormal EKG, Respiratory insufficiency due to mu... OMIM:310200
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... OMIM:617300
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Firs... OMIM:615344
Craniofaciofrontodigital Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic ... ORPHA:363705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Atrophoderma Vermiculata
Heart block ORPHA:79100
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... ORPHA:1177
Desminopathy
Sudden cardiac death, Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakne... ORPHA:98909
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... ORPHA:268
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Rett Syndrome
Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Abnormal T-wave, Prolonged QTc int... OMIM:312750
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Dyspnea, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Miscarriage, Pulmonary embolism ORPHA:82
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Gaucher Disease Type 1
Pericardial effusion, Abnormal myocardium morphology, Abnormal pulmonary interstitial morphology,... ORPHA:77259
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Emphysema, ... ORPHA:324
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor... ORPHA:980
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... ORPHA:1055
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops fetalis, Ascites OMIM:269920
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Dyspnea, Abnormal lung m... ORPHA:464329
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Edema, Pulmonary embolism, Increased pulmonary vascular re... ORPHA:70591
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Death in infancy, Hypertrophic cardiomyopathy, ... OMIM:617184
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo... ORPHA:97214
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... OMIM:265450
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Dyspnea, Nonproductive cough, Abnormal cardiac ventric... ORPHA:85443
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Scorpion Envenomation
Bundle branch block, Tachycardia, Purpura, Cardiac conduction abnormality, Edema, Myocarditis, Co... ORPHA:466677
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, ... OMIM:619751
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Hemothor... ORPHA:2038
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am... ORPHA:66634
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Tracheomalacia, Pulmonary insuff... OMIM:245650
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Pericardial effusion, Dyspnea, Raynaud phenomenon, Pleural effusion, Ascites ORPHA:93552
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgi... OMIM:212140
Pseudohypoparathyroidism Type 2
Calcinosis, Prolonged QT interval ORPHA:94090
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Q Fever
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus... ORPHA:781
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Arrhythmia, EMG: myopathic abnormalities ORPHA:480864
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology, Respiratory insuffic... OMIM:601612
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis,... OMIM:256550
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... OMIM:253250
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... ORPHA:79
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... OMIM:616878
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Prolonged prothrombin... ORPHA:71212
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Syncope, Palpitations,... OMIM:170390
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Generalized amyotrophy... OMIM:602668
Poems Syndrome
Edema, Respiratory insufficiency due to muscle weakness, Pericardial effusion, Restrictive ventil... ORPHA:2905
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infecti... OMIM:618183
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I... ORPHA:79102
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... ORPHA:90308
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Flexion contracture, Stridor, Camptodactyly, Pulmonary arterial hypertension OMIM:620029
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Gaucher Disease Type 3
Recurrent respiratory infections, Mitral valve calcification, Abnormal heart valve morphology, Pe... ORPHA:77261
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... ORPHA:538
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morpho... ORPHA:1666
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Pedal ... ORPHA:422
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Cardiomegaly ORPHA:858
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... OMIM:232300
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
Refsum Disease
Heart block, Skeletal muscle atrophy, Respiratory insufficiency, Cardiomyopathy ORPHA:773
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema OMIM:608776
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy OMIM:610131
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Abnormal bleeding, Crackles, Rhabdomyolysis, Tachypnea, ST segment depress... ORPHA:466650
Gitelman Syndrome
Respiratory distress, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdomyol... ORPHA:358
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98853
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Congenital hypertrophy of ... OMIM:239850
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Abnormal... ORPHA:70588
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block ORPHA:480
Sarcoidosis, Susceptibility To, 2
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... OMIM:612387
Congenital Sialidosis Type 2
Abnormal EKG, Edema, Respiratory tract infection, Telangiectasia, Abnormal heart morphology, Asci... ORPHA:93400
Pseudohypoparathyroidism Type 1B
Calcinosis, Dyspnea, Prolonged QT interval ORPHA:94089
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defe... OMIM:620070
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Respiratory insufficiency due to m... ORPHA:329336
Gitelman Syndrome
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hypertension, Lower limb hyperton... OMIM:619487
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98863
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertroph... OMIM:617713
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphol... OMIM:181000
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion OMIM:617822
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardi... OMIM:618280
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Dy... ORPHA:275766
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate mor... OMIM:620294
Congenital Gerbode Defect
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... ORPHA:99095
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insufficiency OMIM:615917
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Camptodactyly OMIM:619576
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Flexion contracture, Brad... OMIM:610015
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Subdural hemorr... OMIM:202400
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallo... OMIM:108900
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... OMIM:201475
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia ORPHA:42
Lymphatic Malformation 12
Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascit... OMIM:620014
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Dyspnea, Dilatation of the ventricular cavity, Atrial stand... OMIM:615745
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Cardiogenic s... OMIM:619371
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... OMIM:235510
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... ORPHA:392
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... ORPHA:308552
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... OMIM:616501
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Dyspnea, Flexion contracture, Right bundle branch block, Hypertension, M... OMIM:614008
Meckel Syndrome, Type 8
Pericardial effusion OMIM:613885
Rhizomelic Chondrodysplasia Punctata, Type 5
Recurrent respiratory infections, Skeletal muscle atrophy, Asthma, Contractures of the large join... OMIM:616716
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency, Ventricular septal hypertrophy OMIM:619322
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion c... OMIM:212065
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Lymphedema ORPHA:3137
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly ORPHA:99931
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Hyper... OMIM:617403
Dpagt1-Cdg
Prolonged QT interval, Flexion contracture, Intracranial hemorrhage, Anasarca, Pulmonary hypoplas... ORPHA:86309
Alg9-Cdg
Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P... ORPHA:79328
Aicardi-Goutieres Syndrome 7
Pneumonia, Edema, Pericardial effusion, Hematemesis, Vasculitis, Oligohydramnios, Hematochezia, H... OMIM:615846
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Death in infancy, Ventricular septal defect, Camptoda... ORPHA:373
Pseudohypoparathyroidism Type 1C
Calcinosis, Dyspnea, Prolonged QT interval ORPHA:79444
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... ORPHA:158687
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper... OMIM:265400
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Respiratory insufficiency... OMIM:617021
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... OMIM:616897
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Apnea, Bradycardia OMIM:619814
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P... OMIM:160900
Cap Myopathy
Reduced systolic function, Facial palsy, Central hypoventilation, Abnormal muscle fiber morpholog... ORPHA:171881
Pseudohypoparathyroidism Type 1A
Calcinosis, Dyspnea, Prolonged QT interval, Hypertension ORPHA:79443
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return, Pulmonar... OMIM:106700
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Edema, Pulmonary hypoplasia, Neonatal dea... OMIM:253310
Chédiak-Higashi Syndrome
Abnormal bleeding, Recurrent respiratory infections, Epistaxis, Edema, Pericardial effusion, Ging... ORPHA:167
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... ORPHA:3208
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... ORPHA:465508
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Right bundle branch block, Mi... OMIM:617506
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Pneumothorax, Knee flexion contracture, Mitral val... OMIM:617402
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... ORPHA:90060
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium mor... ORPHA:228308
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Raynaud pheno... ORPHA:79128
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fiber... OMIM:300219
Hennekam Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Lymphedema, Pericardial effusion, Pulm... ORPHA:2136
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Joint contracture of the 5th finger, Atrioventricular block OMIM:614407
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Pedal edema, Cough, Pulmonary ... ORPHA:228116
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extrem... ORPHA:1772
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Edema, Pulmonary embolism ORPHA:624
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... ORPHA:464343
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lymphedema, Lip tela... ORPHA:79280
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Dyspnea, Dehydration, Rhinitis, Orthostatic syncope, Syncope ORPHA:230
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication ORPHA:416
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Sickle Cell Disease
Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly OMIM:603903
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Cantú Syndrome
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo... OMIM:617022
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Respiratory tract infection, Dyspnea, Facial edema, P... ORPHA:567546
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Sarcoidosis
Abnormal cardiac ventricular function, Abnormal nasal mucosa morphology, Facial palsy, Abnormal p... ORPHA:797
Generalized Arterial Calcification Of Infancy
Respiratory distress, Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pe... ORPHA:51608
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Generalized muscle hypertrophy, Respiratory insu... OMIM:139210
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... OMIM:620300
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... OMIM:306955
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Hepatospleno... OMIM:608013
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pul... OMIM:601186
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Left-to-right shunt, Ventricular septal d... ORPHA:99050
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... OMIM:602782
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Edema, Pulmonary embolism, Budd-Chiari syndrome, Recurrent lower respiratory tract infections, As... OMIM:226300
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis, Congenital diaphragmatic hernia, Camptodactyly ORPHA:1272
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, My... ORPHA:221
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... OMIM:608836
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Lyme Disease
Joint swelling, Arrhythmia, Atrioventricular block ORPHA:91546
Idiopathic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Periorbital edema, Edema, Pulmonary embolism ORPHA:567548
Mogs-Cdg
Hepatomegaly, Pulmonary edema, Polyhydramnios, Edema, Cardiomegaly, Hepatosplenomegaly, Atrial se... ORPHA:79330
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Hypertension, Hy... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Hypertension, Hy... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Hypertension, Hy... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Hypertension, Hy... ORPHA:99226
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... ORPHA:3384
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Cartilage-Hair Hypoplasia
Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Respiratory insufficiency, Car... ORPHA:175
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... ORPHA:2463
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block OMIM:530000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Bruising susceptibility, Mitral valve prolapse ORPHA:536532
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Subcutaneous hemorrhage, Pulmonary embolism ORPHA:743
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism ORPHA:745
Meacham Syndrome
Atrial septal defect, Stillbirth, Death in infancy, Bicuspid aortic valve, Aplasia of the right h... OMIM:608978
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Mitral regurgitation, Neonatal death, Atrial septal defect... OMIM:620244
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Atrial sep... OMIM:265380
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Apnea, Cardiac conduction abnormality, Abnormal T-wave, D... ORPHA:2131
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia ORPHA:93317
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt... ORPHA:3260
Leptospirosis
Respiratory distress, Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal ... ORPHA:509
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Congestive he... OMIM:252500
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Umbilical hernia, Arthrogr... OMIM:618143
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dehydration, Macroglossia, Umbilical herni... ORPHA:96191
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Dehydration, Hypertension, Pulmonary hypoplasia, Neonatal death... OMIM:263200
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Bruising susceptibil... OMIM:230000
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hypertension, Bradycardia, Hypotens... ORPHA:94093
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated... ORPHA:550
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Ascites, Anasarca, Third degree ... OMIM:619573
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Flexion contractur... ORPHA:581
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction,... ORPHA:117
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Cardiac conduction abnormality, Dyspnea, Ragged-red muscle fibers, Episodic respiratory di... ORPHA:255210
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Friedreich Ataxia 2
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... OMIM:601992
Abetalipoproteinemia
Abnormal bleeding, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Prolonged prot... ORPHA:14
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Dehydration, Intermittent claudic... OMIM:259900
Ogden Syndrome
Bicuspid aortic valve, Lymphedema, Cardiomegaly, Secundum atrial septal defect, Ventricular tachy... OMIM:300855
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Dehydration, Melena, Hypertension ORPHA:652
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Abnormal T-wave, Limb h... ORPHA:444072
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Polyhydramnios, Supraventricular tachycardia, Foo... ORPHA:273
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Bidirectional shunt, Elevated pulmonary arter... OMIM:619351
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Dyspnea, Tendon xanthomatosis, Hear... ORPHA:391665
Pmm2-Cdg
Respiratory distress, Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Per... ORPHA:79318
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype... ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Congestive heart fa... OMIM:256040
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Polyhydramnios, Cardiomegaly, Congenital diaphragmatic hernia, Spl... ORPHA:116
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, A... OMIM:182250
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Ventricular septal defect, Ca... ORPHA:353281
African Trypanosomiasis
Abnormal EKG, Pericarditis, Miscarriage, Myocarditis, Congestive heart failure, Second degree atr... ORPHA:3385
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f... ORPHA:3472
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... ORPHA:904
Pearson Syndrome
Cardiac conduction abnormality, Hydrops fetalis, Dehydration, Abnormal heart morphology, Corneal ... ORPHA:699
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Ventricular septal defect, Ca... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Ventricular septal defect, Ca... ORPHA:353277
Multiple Osteochondromas
Pneumothorax, Hemothorax ORPHA:321
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
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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