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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 cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... OMIM:115197
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... ORPHA:300751
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Dyspnea, Heart block, Congestive heart failure ORPHA:871
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Limb-girdle muscle weakness, F... ORPHA:98912
Myopathy, Myosin Storage, Autosomal Recessive
Death in early adulthood, Right bundle branch block, Scapuloperoneal amyotrophy, Muscle fiber hya... OMIM:255160
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... ORPHA:99105
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent foramen ovale, Pneumonia, Prol... OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Ortho... OMIM:613838
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... ORPHA:254361
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... OMIM:618052
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Pulmonary edema, Abnormal bleeding, Left ventricula... ORPHA:57777
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Exertional dyspnea, EMG: myopathic abnormalities, Palpitations, Arrhythmia... ORPHA:263297
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion,... ORPHA:1041
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Myofibrillar Myopathy 10
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Prolon... OMIM:619040
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Respiratory f... ORPHA:563
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... OMIM:618782
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Systolic heart... ORPHA:99103
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Tricuspid regurgitation, Chronic pulmonary obstruction, P... ORPHA:2414
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Abnormal respiratory system... ORPHA:99106
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Systolic heart murmur, Elevated pulmonary artery pressure, Right b... ORPHA:1329
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Ventricular Tachycardia, Familial
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block OMIM:192605
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... ORPHA:206559
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Respiratory insufficiency, Abnormality on pulmonary func... ORPHA:97244
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
Muscular Dystrophy, Becker Type
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy OMIM:300376
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy OMIM:613158
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Atrial septal defect, Episodic tachypnea, Tachycardia, Exercise-induced rha... ORPHA:26793
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Dilated cardiomyopathy, Noncompaction cardiomyopathy, Prolonged QT interval... OMIM:610198
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... ORPHA:79126
Primary Effusion Lymphoma
Dyspnea, Pericardial effusion, Pleural effusion ORPHA:48686
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Congenital musc... OMIM:615351
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... ORPHA:199241
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 2
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Dyspnea, Atrial fibri... OMIM:115195
Aapoaiv Amyloidosis
Cardiac amyloidosis, Left bundle branch block, Sinus bradycardia, Chronic pulmonary obstruction, ... ORPHA:439232
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... ORPHA:45452
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... OMIM:611369
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... ORPHA:437572
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Neonatal Lupus Erythematosus
Abnormal bleeding, Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dilated card... ORPHA:398124
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Respiratory insufficiency, Skeletal muscle atrophy, Right bundle branch block OMIM:616479
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Drug-Induced Lupus Erythematosus
Petechiae, Prolonged QTc interval, Dyspnea, Pericarditis, Pericardial effusion ORPHA:231111
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... ORPHA:251274
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Pedal edema, Reduced... ORPHA:75565
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Abnormal EKG, Cardiomyopathy OMIM:309930
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... ORPHA:85451
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Myocardial infarction... ORPHA:90068
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... OMIM:615616
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Cough, Angioedema, Pleural effusion, Emphysema, Abnormal heart valve morpholo... ORPHA:36412
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... OMIM:310300
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation ORPHA:90647
Scimitar Syndrome
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... ORPHA:185
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral ischemia, Sync... ORPHA:90065
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly ORPHA:85447
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Juvenile Dermatomyositis
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Palpeb... ORPHA:93672
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Aortic Arch Interruption
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... ORPHA:2299
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Wild Type Attr Amyloidosis
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal pulmo... ORPHA:330001
Nephrosialidosis
Death in childhood, Ascites, Pericardial effusion OMIM:256150
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops feta... OMIM:617300
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Oligohydramnios, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:617713
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress, P... OMIM:619003
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Miscarriage, Pulmonary embolism ORPHA:82
Ethylene Glycol Poisoning
Episodic respiratory distress, Pulmonary edema, Facial palsy, Tachycardia, Abnormal pattern of re... ORPHA:31826
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Cerebral ischemia ORPHA:3325
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Pulmon... ORPHA:75249
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Respiratory insufficiency due to muscle weakness, Flexion contracture, Hy... OMIM:310200
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... OMIM:613327
Congenital Enterovirus Infection
Respiratory distress, Abnormal bleeding, Hydrops fetalis, Myocarditis, Hypotension, Polyhydramnio... ORPHA:292
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block OMIM:609438
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Heart block, Premature ventricular contraction ORPHA:1964
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Reduced left ventricular ejecti... ORPHA:542323
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Lowe... ORPHA:363705
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Reduced vital capacity, Scapular winging, Type 1 muscle fiber predominance, Faci... OMIM:617336
Atrophoderma Vermiculata
Heart block ORPHA:79100
Rett Syndrome
Apnea, Abnormal T-wave, Prolonged QTc interval, Intermittent hyperventilation, Skeletal muscle at... OMIM:312750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Desminopathy
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Concentric hypertr... ORPHA:98909
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... OMIM:609040
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Pulmonary edema, Macroglossia, Hypotension, Shortened PR interval, Bive... OMIM:261740
Autoimmune Hypoparathyroidism
Dyspnea, Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right atrial enlargement, Abnormal left ventricular function, Abnormal T-wave, Red... ORPHA:70591
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Pedal edema, Pulmonary hypoplasia, Red... ORPHA:980
Congenital Left Ventricular Aneurysm
Apnea, Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Cong... ORPHA:1055
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Gaucher Disease Type 1
Bruising susceptibility, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertens... ORPHA:77259
Noonan Syndrome With Multiple Lentigines
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Bundle branch block, Atrio... ORPHA:500
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Kaposiform Lymphangiomatosis
Bruising susceptibility, Abnormal bleeding, Epidural hemorrhage, Cough, Ecchymosis, Pleural effus... ORPHA:464329
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Abnormal myocardium morphology, Transient ischemic a... ORPHA:324
Scorpion Envenomation
Bundle branch block, Pulmonary edema, Premature ventricular contraction, ST segment depression, T... ORPHA:466677
Al Amyloidosis
Abnormal heart morphology, Abnormal cardiac ventricle morphology, Abnormal P wave, Jaw claudicati... ORPHA:85443
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Myopathy, Reduced muscle c... OMIM:212140
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Atrioventricular canal defect... ORPHA:97214
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Neonatal death, Respiratory insufficiency due to muscle weakness, De... OMIM:617184
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Cardiomegaly, Congestive heart failure OMIM:269920
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Hyperventilation, Hypertrophic cardiomyo... OMIM:618775
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Generalized amyotrophy, Abnormal EKG, Lower limb muscle weakness, Lower limb hypertonia ORPHA:1177
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly OMIM:600649
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Pulmonary e... ORPHA:137675
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Abno... OMIM:265450
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Camptodactyly, Pulmonary arterial hyp... OMIM:619751
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Diaphragmatic eventration, Dilated cardiomyopathy, Prolonged ... ORPHA:66634
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary insufficiency, Respiratory insufficiency, Neonatal death, Pulmonary hyp... OMIM:245650
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Myositis, Pleural effusion, Edema, Dyspnea, Ascites, Pericardial effusion ORPHA:93552
Q Fever
Respiratory distress, Abnormal left ventricular function, Endocarditis, Myocarditis, Abnormal pul... ORPHA:781
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Congestive heart failure OMIM:301021
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpit... ORPHA:2038
Interstitial Lung Disease 2
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... OMIM:178500
Refsum Disease, Classic
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Respiratory insufficiency, Ar... ORPHA:732
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Complete heart block with narrow QRS complexes,... ORPHA:1677
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly OMIM:619064
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Respiratory insufficiency, Bilateral lung agenesis, Neonatal ... OMIM:601612
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
EMG: myopathic abnormalities, Arrhythmia, Acute rhabdomyolysis, Abnormal EKG, Prolonged QT interval ORPHA:480864
Pseudohypoparathyroidism Type 1B
Dyspnea, Prolonged QT interval ORPHA:94089
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Arrhythmia, Pleural effusion, Telangiectasia, Ascites, Cardiomyopathy... OMIM:235200
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Pleural effusion, Edema, Restrictive ventilator... ORPHA:2905
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... OMIM:619051
Neuraminidase Deficiency
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites, Skeletal muscle atrophy, Card... OMIM:256550
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Syncope, Bidirectional ventricular ectopy, Prolonged QTc interval, Prominent U wave... OMIM:170390
Gaucher Disease Type 3
Aortic valve calcification, Hydrops fetalis, Mitral valve calcification, Abnormal pulmonary inter... ORPHA:77261
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Hydrops fetalis, Ascites, Cardiomega... OMIM:253250
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Prolonged prothrombin time, Hypertrophic cardiomyo... ORPHA:71212
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Respiratory paralysis, Palpitations, Lower limb muscle weakness... ORPHA:79102
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, C... OMIM:618652
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... ORPHA:1457
Klippel-Trénaunay Syndrome
Atrial septal defect, Respiratory insufficiency, Hydrops fetalis, Pulmonary embolism, Prolonged b... ORPHA:90308
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Acute rhabdomyolysis, Prolonged QTc interval, Rhabdomyolysis, Ventricular tac... OMIM:616878
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, T-wave inversion, Abnormal EKG, Abn... ORPHA:1666
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Myotonic Dystrophy 2
Premature ventricular contraction, Type 2 muscle fiber atrophy, Weakness of facial musculature, P... OMIM:602668
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... ORPHA:324410
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascular system phys... ORPHA:422
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary aterial intimal fibrosis, Right ventricular hypertrophy... OMIM:178600
Refsum Disease
Heart block, Respiratory insufficiency, Skeletal muscle atrophy, Cardiomyopathy ORPHA:773
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... OMIM:265120
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Granulomatous coronary arteritis, Pericardial effusion, Pleural effusion OMIM:108050
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... ORPHA:275766
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypocapnia, Abnormal bleeding, C... ORPHA:466650
Gitelman Syndrome
Respiratory distress, Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, S... ORPHA:358
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Aspiration pneumonia, Left ventricular noncompaction, Left ventricular h... OMIM:619167
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Respiratory insufficiency due to muscle weakness, Increased muscl... OMIM:232300
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion OMIM:618183
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effusion... OMIM:239850
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hepatomegaly, Cardiomegaly OMIM:255120
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Ascites, Pericardial effusion, Edema OMIM:608776
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Congenital Toxoplasmosis
Ascites, Hepatomegaly, Cardiomegaly ORPHA:858
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion, Abnormal pleura morphology ORPHA:92
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Gitelman Syndrome
Palpitations, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Prolonged QT interval OMIM:263800
Lymphangioleiomyomatosis
Chylopericardium, Chylothorax, Cough, Gastrointestinal hemorrhage, Lymphedema, Restrictive ventil... ORPHA:538
Glutamine Deficiency, Congenital
Apnea, Flexion contracture, Neonatal death, Camptodactyly, Neonatal respiratory distress, Recurre... OMIM:610015
Aicardi-Goutieres Syndrome 9
Left ventricular hypertrophy, Increased blood pressure, Edema, Lower limb hypertonia, Portal hype... OMIM:619487
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Congenital Sialidosis Type 2
Petechiae, Abnormal EKG, Respiratory tract infection, Edema, Telangiectasia, Ascites, Abnormal he... ORPHA:93400
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Decreased cervical... ORPHA:98863
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Abnormal pulmonary interstitial morphology, Cough, Pulmonary arterial hypertension, Pl... OMIM:181000
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Weakness of facial musculature, Abnormal atrioventricular conduction, Limb muscle weakness, Skele... ORPHA:329336
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial hyperte... OMIM:612387
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Hematemesis, Subdural hemorrhage, Persistent bleeding after tr... OMIM:202400
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Mitral regurgitation, Tricuspid regurgitation, Right bundle branch block, Camptodactyly OMIM:619576
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Rhabdomyolysis, Cardiorespiratory arrest, Ventric... OMIM:212138
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Sudden cardiac death, Dilated cardiomyopathy, Pericardial effusion, Congestive h... ORPHA:73224
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dyspnea... OMIM:615745
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... ORPHA:99095
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Cutis Laxa, Autosomal Recessive, Type Iic
Atrial septal defect, Tricuspid regurgitation, Mitral valve prolapse, Aortic regurgitation, Biven... OMIM:617402
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... OMIM:618280
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency due to muscle weakness, Macroglossia, Left ventri... ORPHA:308552
Rhizomelic Chondrodysplasia Punctata, Type 5
Asthma, Contractures of the large joints, Sinus tachycardia, Skeletal muscle atrophy, Recurrent r... OMIM:616716
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Cardiomegaly ORPHA:3137
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy, Interstitial pneumonitis, Intraalveolar phospholipid accumulation,... ORPHA:217563
Primary Intestinal Lymphangiectasia
Pleural effusion, Edema, Generalized edema, Ascites, Pericardial effusion ORPHA:90362
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy ORPHA:42
Familial Aortic Dissection
Abnormal left ventricular function, Aortic regurgitation, Cardiomegaly ORPHA:229
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Death in childhood, Prolonged prothrombin time, Nonimmune hydrops fetalis, C... OMIM:212065
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Flexion contracture, Mitral regurgitation, Right bundle branch block, D... OMIM:614008
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Joint contracture of the hand, Pleural lymphangiectasia, Camptodactyly, Ven... OMIM:235510
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly OMIM:105210
Lymphatic Malformation 12
Recurrent upper and lower respiratory tract infections, Pleural thickening, Nonimmune hydrops fet... OMIM:620014
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, Cardiomegaly ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Ventricular septal hypertrophy, Right bundle branch block OMIM:619322
Alg9-Cdg
Torticollis, Asthma, Hypoplasia of the musculature, Atrial septal defect, Tricuspid regurgitation... ORPHA:79328
Aicardi-Goutieres Syndrome 7
Hematemesis, Hypertrophic cardiomyopathy, Limb hypertonia, Vasculitis, Hematochezia, Recurrent lo... OMIM:615846
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Sudden cardiac death, Exercise-induced rhabdomyolysis, Hypertrophic cardiomyopathy,... OMIM:201475
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Atrial septal defect, Congenital diaphragmatic hernia, Macroglossia, Aplasia... ORPHA:373
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Orthostatic hypotension, Central hypoventilation, Distal amyotrophy, Ab... OMIM:118301
Dpagt1-Cdg
Flexion contracture, Intracranial hemorrhage, Camptodactyly, Pulmonary hypoplasia, Anasarca, Prol... ORPHA:86309
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure OMIM:208000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Camptodactyly, Right bundle branch block, Hypertrophic cardiomyopathy, Cong... OMIM:617403
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular hypertrophy, Right ventricular failure, Syncope, Exertional dy... OMIM:265400
Pseudohypoparathyroidism Type 1C
Calcinosis, Dyspnea, Prolonged QT interval ORPHA:79444
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Tachypnea, Aortic regurgitation, Hypertr... OMIM:616501
Myotonic Dystrophy 1
Facial diplegia, Respiratory distress, Polyhydramnios, Atrial flutter, Atrial fibrillation, First... OMIM:160900
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Oligohydramnios, Card... ORPHA:158687
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Apnea, Third degree atrioventricular block, Bradycardia OMIM:619814
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:619259
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Symptomatic Form Of Hemochromatosis Type 1
Joint swelling, Hepatomegaly, Splenomegaly, Arrhythmia, Cardiomyopathy, Elevated jugular venous p... ORPHA:465508
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex con... OMIM:253310
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Chédiak-Higashi Syndrome
Bruising susceptibility, Abnormal bleeding, Gingival bleeding, Pleural effusion, Edema, Epistaxis... ORPHA:167
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent... OMIM:106700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Ascites, Pleural... OMIM:616897
Cap Myopathy
Abnormal muscle fiber morphology, Sinus tachycardia, Central hypoventilation, Increased variabili... ORPHA:171881
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypertension, Prolonged QT interval, Dyspnea ORPHA:79443
Leopard Syndrome 1
Bundle branch block, Pulmonic stenosis, Third degree atrioventricular block, Subvalvular aortic s... OMIM:151100
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Prolonged QT interval ORPHA:529962
Alkuraya-Kucinskas Syndrome
Arthrogryposis multiplex congenita, Pericardial effusion, Edema, Camptodactyly OMIM:617822
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Abnormal myocardium morphology, Neonatal respiratory distress, Heart block, Cardiomyo... ORPHA:228308
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Death in childhood, Increased variability in muscle fiber diameter, Neonatal dea... OMIM:619334
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... ORPHA:90060
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... ORPHA:3208
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Lethal Congenital Contracture Syndrome 10
Torticollis, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Overriding aorta, Cardi... OMIM:617022
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Rayn... ORPHA:79128
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Tricuspid regurgitation, Pulmonic ste... OMIM:617506
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... OMIM:600309
Alpha-2-Plasmin Inhibitor Deficiency
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility OMIM:262850
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Sudden cardiac death, Tachycardia, Ventricular septal defect, Rhabdomyolysis, Pulmo... OMIM:614921
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Ventricular septal defect, Second degree atrioventricular block, Ventric... ORPHA:369929
Spastic Paraplegia Type 2
Pulmonary embolism, Recurrent respiratory infections ORPHA:99015
Hennekam Syndrome
Chylothorax, Pulmonary lymphangiectasia, Camptodactyly of finger, Hydrops fetalis, Respiratory in... ORPHA:2136
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Sickle Cell Anemia
Hypertension, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block, Joint contracture of the 5th finger OMIM:614407
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Familial Multiple Nevi Flammei
Arrhythmia, Intracranial hemorrhage, Pulmonary embolism, Edema ORPHA:624
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary embolism, Vasculitis, Cough, Pedal edema, Cardiorespiratory ... ORPHA:228116
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia, Lymphedema, Ca... ORPHA:79280
Sandhoff Disease
Hepatomegaly, Macroglossia, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy,... OMIM:268800
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly, Umbilical hernia ORPHA:1517
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Miscarriage, Pulmonary embolism, Myocarditis, M... ORPHA:464343
Primary Hyperoxaluria
Intermittent claudication, Raynaud phenomenon, Heart block, Cardiomyopathy, Arterial occlusion ORPHA:416
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Dehydration, Syncope, Orthostatic syncope, Abnormal EKG, Dyspnea, Rhinitis ORPHA:230
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Tachycardia, Prolonged QT interval, Muscle hypertrophy of the lower extrem... ORPHA:1772
Pulmonary Alveolar Microlithiasis
Pneumothorax, Respiratory failure, Interlobular septal thickening, Oxygen desaturation on exertio... ORPHA:60025
Leigh Syndrome With Nephrotic Syndrome
Generalized edema, Oligohydramnios, Cardiomegaly ORPHA:255249
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Sarcoidosis
Joint swelling, Chylothorax, Abnormal nasal mucosa morphology, Arrhythmia, Heart block, Abnormal ... ORPHA:797
Myhre Syndrome
Generalized muscle hypertrophy, Atrial septal defect, Aortic valve stenosis, Skeletal muscle hype... OMIM:139210
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia... ORPHA:95430
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Hypertension, Per... ORPHA:91347
Generalized Arterial Calcification Of Infancy
Respiratory distress, Hydrops fetalis, Weak pulse, Retinal hemorrhage, Polyhydramnios, Pericardia... ORPHA:51608
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Pulmonary embolism, Edema, Pneumonia, Generalized edema, Ascites OMIM:226300
Craniofaciofrontodigital Syndrome
Ecchymosis, Cardiomegaly, Abnormal heart morphology OMIM:114620
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Left ventricular outflow tract obstruction, Anomalo... ORPHA:99050
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Lyme Disease
Joint swelling, Arrhythmia, Atrioventricular block ORPHA:91546
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosi... OMIM:602782
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Edema, Pleural effusion... ORPHA:567546
Gaucher Disease, Perinatal Lethal
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Nonimmune hydrops fetalis, Neonatal de... OMIM:608013
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Pericarditis, Pericardial effusion, Camptodactyly ORPHA:1272
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormal left ventricular function, Bruising susceptibility, Hypovolemia, ... ORPHA:91387
Dermatomyositis
Lung adenocarcinoma, Telangiectasia of the skin, Sinus tachycardia, Respiratory insufficiency, Ar... ORPHA:221
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... OMIM:234700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Arrhythmia, Enlarged kidney, Increased muscle lipid content, Dilated cardiomyopathy... OMIM:608836
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Idiopathic Steroid-Resistant Nephrotic Syndrome
Edema, Respiratory tract infection, Pulmonary embolism, Periorbital edema ORPHA:567548
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:231625
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Pulmonic stenosis, Mitral regurgitation, Central hypoventilation, Di... ORPHA:70474
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Respira... ORPHA:175
Truncus Arteriosus
Abnormal heart valve physiology, Atrial septal defect, Pulmonary edema, Right ventricular hypertr... ORPHA:3384
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Myocardial infarction, Lymph... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Myocardial infarction, Lymph... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Myocardial infarction, Lymph... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Myocardial infarction, Lymph... ORPHA:99226
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Pulmonary edema, Left ventricular hypertrophy, Hepatosplenome... ORPHA:79330
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Mucosal telangiectasiae, Small hypothenar eminence, Thenar muscle ... ORPHA:2463
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Neonatal death, Pulmonary hypoplasia, Portal hypertension, Hypertension, Oligohydram... OMIM:263200
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy OMIM:530000
Classical-Like Ehlers-Danlos Syndrome Type 2
Mitral valve prolapse, Pericardial effusion, Bruising susceptibility ORPHA:536532
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia, Conotruncal defect, Atrioventricular canal defect ORPHA:40366
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Pulmonary embolism, Subcutaneous hemorrhage ORPHA:743
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Flexion contracture, Macroglossia,... ORPHA:365
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism ORPHA:745
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Intrinsic hand muscle atrophy, Concentric hypertrophic cardiomyopathy, Foot dorsiflexor weakness,... OMIM:302900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Alveolar cap... OMIM:265380
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Miscarriage, Hemothorax, Pulmonary hemorrhage, Subarachnoid h... OMIM:187300
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Bruising susceptibility, Respir... ORPHA:729
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Abnormal T-wave, Dehydration, Arrhythmia, Cardiac conduction abnorma... ORPHA:2131
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:371428
Friedreich Ataxia And Congenital Glaucoma
Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Abnormal EKG, Hyper... OMIM:229310
Spondylometaphyseal Dysplasia, Sedaghatian Type
Respiratory insufficiency, Arrhythmia, Myocarditis, Cardiorespiratory arrest, Atrioventricular block ORPHA:93317
Mucopolysaccharidosis, Type Vi
Mitral stenosis, Sleep apnea, Tricuspid regurgitation, Flexion contracture, Macroglossia, Mitral ... OMIM:253200
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Abnormal EKG, Congestive heart failure, Concentric hypertro... OMIM:601992
Leptospirosis
Respiratory distress, Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Cough, R... ORPHA:509
Fucosidosis
Hepatomegaly, Macroglossia, Flexion contracture, Splenomegaly, Cardiomegaly OMIM:230000
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Hepatomegaly, Macroglossia, Splenomegaly, Mitral regurgitation, Palpebral edema,... OMIM:252500
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Joint swelling, Respiratory distress, Asthma, Vasculitis in the skin... ORPHA:3260
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Macroglossia, Dehydration, Ventricular septal defect, Umbilical hernia, Oligohydram... ORPHA:96191
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Hepatomegaly, Macroglossia, Arthrogryposis multiplex congenita, Umbi... OMIM:618143
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Atrioventricular block, Flexion contracture, Macroglossia, Aspi... ORPHA:581
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Melas
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers,... ORPHA:550
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Dehydration, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Rhab... ORPHA:94093
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... ORPHA:774
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypervent... ORPHA:255210
Beckwith-Wiedemann Syndrome
Diastasis recti, Hepatomegaly, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopa... OMIM:130650
Behçet Disease
Mitral regurgitation, Endocarditis, Myositis, Pulmonary embolism, Vasculitis, Cerebral ischemia, ... ORPHA:117
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Recurrent intrapulmonary hemorrha... OMIM:130050
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Atrioventricular canal defect, Third degree atrioventricular block, Pulmona... OMIM:619573
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... OMIM:245600
Homozygous Familial Hypercholesterolemia
Angina pectoris, Abnormal left ventricular function, Abnormal tendon morphology, Sudden cardiac d... ORPHA:391665
Abetalipoproteinemia
Hepatomegaly, Abnormal bleeding, Cardiomegaly, Distal lower limb muscle weakness, Prolonged proth... ORPHA:14
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Lower limb hypertonia, Bilateral wrist flexion contracture, C... ORPHA:97297
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Pulmonary Hypertension, Primary, 3
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... OMIM:615343
Hyperoxaluria, Primary, Type I
Intermittent claudication, Atrioventricular block, Raynaud phenomenon, Dehydration, Arterial occl... OMIM:259900
Steinert Myotonic Dystrophy
Facial diplegia, Weakness of facial musculature, Abnormality of the tongue muscle, Respiratory fa... ORPHA:273
Ogden Syndrome
Enlarged kidney, Ventricular septal defect, Umbilical hernia, Cardiomegaly, Torsade de pointes, A... OMIM:300855
Multiple Endocrine Neoplasia Type 1
Melena, Hematemesis, Dehydration, Hypertension, Shortened QT interval ORPHA:652
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Limb hypertonia, Ventricular septal defect, Mitral valve prolapse, Foot joint co... ORPHA:444072
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Respiratory failure requiring assisted ventilation, Bidirecti... OMIM:619351
Pmm2-Cdg
Angina pectoris, Multiple joint contractures, Respiratory distress, Aspiration pneumonia, Intracr... ORPHA:79318
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:618278
Aicardi-Goutières Syndrome
Multiple joint contractures, Raynaud phenomenon, Hepatosplenomegaly, Myositis, Arrhinencephaly, H... ORPHA:51
Visceral Steatosis, Congenital
Myocardial steatosis, Neonatal death OMIM:228100
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, Cam... OMIM:256040
Hamamy Syndrome
Prolonged QRS complex, Complete atrioventricular canal defect, Atrial septal defect, Mitral regur... OMIM:611174
Beckwith-Wiedemann Syndrome
Diastasis recti, Hepatomegaly, Congenital diaphragmatic hernia, Macroglossia, Splenomegaly, Rhabd... ORPHA:116
African Trypanosomiasis
Miscarriage, Arrhythmia, Myocarditis, Third degree atrioventricular block, Second degree atrioven... ORPHA:3385
Yunis-Varon Syndrome
Atrial septal defect, Increased nuchal translucency, Hydrops fetalis, Arrhinencephaly, Tetralogy ... ORPHA:3472
Singleton-Merten Syndrome 1
Aortic valve calcification, Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Mitral v... OMIM:182250
Angioosteohypertrophic Syndrome
Tricuspid valve prolapse, Telangiectasia of the skin, Pulmonary embolism, Lymphedema, Gastrointes... ORPHA:2346
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary embolism, Dila... ORPHA:79282
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Asthma, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ve... ORPHA:353281
Liver Disease, Severe Congenital
Abnormal left ventricular function, Hepatomegaly, Atrial septal defect, Pulmonary edema, Splenome... OMIM:619991
Williams Syndrome
Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... ORPHA:904
Classic Homocystinuria
Subcutaneous hemorrhage, Intracranial hemorrhage, Pulmonary embolism, Cerebral ischemia, Gastroin... ORPHA:394
Pearson Syndrome
Corneal stromal edema, Dehydration, Hydrops fetalis, Cardiac conduction abnormality, Cardiomyopat... ORPHA:699
Dehydrated Hereditary Stomatocytosis
Pulmonary venous hypertension, Edema ORPHA:3202
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Asthma, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ve... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Asthma, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ve... ORPHA:353277
Multiple Osteochondromas
Hemothorax, Pneumothorax ORPHA:321
Proteus Syndrome
Sudden cardiac death, Neoplasm of the lung, Myofibrillar myopathy, Pulmonary embolism, Abnormal l... ORPHA:744
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Paroxysmal Nocturnal Hemoglobinuria
Budd-Chiari syndrome, Pulmonary embolism, Myocardial infarction, Dyspnea, Hypertension ORPHA:447

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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