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Gene: Senp2 MGI:1923076

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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:
SUMO/sentrin specific peptidase 2
Synonyms:
2310007L05Rik,  4930538C18Rik

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 Senp2 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 Senp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Long Qt Syndrome 15
Ventricular bigeminy, Seizure, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Pre... OMIM:616249
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Seizure, Paroxysmal atrial fib... OMIM:604772
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:619964
Romano-Ward Syndrome
Seizure, Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia,... ORPHA:101016
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Cortical Malformations, Occipital
Polymicrogyria, EEG abnormality, Bilateral tonic-clonic seizure, Pachygyria, Focal impaired aware... OMIM:614115
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... OMIM:614417
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Enhanceme... OMIM:615127
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Myoclonic seizure, Bradycardia OMIM:619521
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Seizure, Syncope, Ventricular tachycardia, Bradycardia, Polymorphic ventricular tachycardia OMIM:611938
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilatera... OMIM:615006
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... OMIM:254770
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilate... OMIM:619970
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG wit... OMIM:117100
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Continuous spike and waves during slow sleep, Typical absence seizure,... ORPHA:725
Familial Focal Epilepsy With Variable Foci
Polymicrogyria, Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, ... ORPHA:98820
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613722
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Interictal... OMIM:615400
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... OMIM:613697
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:616056
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se... OMIM:600669
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Seizure, Bradycardia OMIM:617173
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Lissencephaly, Seizure, Pachygyria OMIM:614499
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Seizure,... OMIM:245570
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... OMIM:617391
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... OMIM:310300
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Placental Insufficiency
Small placenta, Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology ORPHA:439167
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with eyelid... ORPHA:139426
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo... OMIM:607631
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... OMIM:254800
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... OMIM:612158
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, EEG with generalized epileptiform discharges, Bilateral tonic-cloni... OMIM:616187
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar... OMIM:617389
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... ORPHA:139431
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure... OMIM:616346
Developmental And Epileptic Encephalopathy 98
EEG with burst suppression, Refractory status epilepticus, Focal-onset seizure, Clonic seizure, B... OMIM:619605
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611364
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, EEG with burst suppression, Clonic seizure, Bilateral tonic-clonic... OMIM:266100
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia ORPHA:293964
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Seizure, Hypertrophic cardiomyopathy, EEG abnormality, Bradycardia, Simpl... OMIM:618815
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... OMIM:619000
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:607745
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Seizure, Ventricular escape rhythm, Arrhythmia, Hypsarrhythmia, Bradycardia, Sick sinus syndrome,... ORPHA:542306
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Hypsarrhythmia, Bilateral t... OMIM:616409
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Myoclonus, Prolonged somatosensory evoked potentials, Focal hemifacial clonic seizure, Bilateral ... OMIM:608105
Developmental And Epileptic Encephalopathy 101
Myoclonus, Third degree atrioventricular block, Seizure, Bradycardia OMIM:619814
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... ORPHA:101071
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:22
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic sei... OMIM:617904
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure, EEG a... ORPHA:2382
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Seizure, Bradycardia OMIM:617182
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atonic seizu... OMIM:617113
Hydrops Fetalis
Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni... ORPHA:1041
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure OMIM:616341
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Combined Oxidative Phosphorylation Deficiency 39
Pachygyria, Simplified gyral pattern, Hypsarrhythmia, Sinus bradycardia OMIM:618397
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Hypsarrhythmia, Bilater... OMIM:616139
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Hypsarrhythmia,... OMIM:618141
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Absence seizure with... OMIM:618587
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Non-convulsive status epilepticus without coma, EEG with generaliz... ORPHA:98818
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Sudden Cardiac Failure, Infantile
Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden ... OMIM:617222
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, EEG abnormality, Seizure OMIM:608636
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave... ORPHA:98909
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Pericardia... OMIM:614702
Timothy Syndrome
Atrioventricular block, Seizure, Pulmonary arterial hypertension, Ventricular tachycardia, Bradyc... OMIM:601005
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Seizure, Cardiomyopathy, Premature ventricular contraction, ... OMIM:212138
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Lissencephaly 3
Seizure, Polymicrogyria, Periventricular laminar heterotopia, Generalized tonic seizure, Bilatera... OMIM:611603
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG with ... OMIM:613855
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Bradycardia ORPHA:2898
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Seizure, Bradycardia OMIM:609924
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Hydrops fetalis, Chylopericardium, Pulmonic stenosis ORPHA:2414
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality, Seizure OMIM:612621
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, Neonatal seizure, Focal clonic seizure, Tonic seizu... ORPHA:140927
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus... OMIM:614018
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin, Febrile seizure (within t... OMIM:609438
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:619157
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Polymicrogyria, Generalized-onset seizure, Abnormality of neuronal migration, EEG abnorm... OMIM:604317
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus, Generalized myoc... OMIM:616540
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Polymicrogyria OMIM:300388
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Developmental Delay With Or Without Epilepsy
EEG with frontal focal spikes, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:620540
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Myoclonic Epilepsy Of Infancy
EEG with irregular generalized spike and wave complexes, Generalized non-motor (absence) seizure,... ORPHA:86909
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure, Pachygyria OMIM:600176
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy, Complex febrile seizure, Seizure precipitated by febrile infection, Sta... ORPHA:363549
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Simplified gyral pattern, Bradycardia OMIM:614407
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absenc... ORPHA:79137
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, EEG abnormality, Focal tonic sei... OMIM:617106
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bilateral tonic-clonic seizure, Bradycardia, Cardiac arrest, Focal m... OMIM:618235
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-cloni... OMIM:617711
Congenital Myopathy 24
First degree atrioventricular block, Cardiomyopathy OMIM:617336
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Tako-Tsubo Cardiomyopathy
Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Palpitations, B... ORPHA:66529
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Peho-Like Syndrome
Polymicrogyria, Myoclonus, Hypsarrhythmia, Bilateral tonic-clonic seizure, Pachygyria, Status epi... OMIM:617507
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Supravalvular aortic stenosis, Tonic seizure, Hypsarrhythmia, Bilate... OMIM:615859
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Myoclonus, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure OMIM:616230
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Focal myoclonic seizure, Seizure, Pulmonary arte... ORPHA:369929
Dk1-Cdg
Dilated cardiomyopathy, Seizure, Congestive heart failure, Infantile spasms, Arrhythmia, Hypsarrh... ORPHA:91131
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Seizure, Holosystolic mur... ORPHA:1677
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, EEG with burst suppression, Myoclonic spasms, Bradycardia, Multifo... OMIM:614498
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Polymicrogyria, EEG with focal slow activity, Bilateral tonic-clonic seizure, Multifocal... ORPHA:209370
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Seizure, Bradycardia OMIM:616276
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Cardiomegaly, Bicuspid aortic valve, Perica... OMIM:239850
Epilepsy, Familial Adult Myoclonic, 2
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:607876
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Seizure, Pulmonary arterial hypertension, EEG abnormality, ... OMIM:617021
Brain Small Vessel Disease 2
Polymicrogyria, Intracranial hemorrhage, Bilateral tonic-clonic seizure, Subcortical heterotopia,... OMIM:614483
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Interictal EEG abnormality, Periventricular nodular heterotopia, Focal-o... ORPHA:352582
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (absence) ... OMIM:619913
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Bilateral ton... OMIM:618856
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Focal hemicl... ORPHA:293181
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila... OMIM:605021
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic... OMIM:617836
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Glycogen Storage Disease 0, Muscle
Cardiomyopathy, Bilateral tonic-clonic seizure OMIM:611556
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:226750
Developmental And Epileptic Encephalopathy 111
Convulsive status epilepticus, Sinus tachycardia, Polymicrogyria, Infantile spasms, Premature ven... OMIM:620504
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Meckel Syndrome, Type 8
Pericardial effusion OMIM:613885
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Seizure, Congestive heart... ORPHA:137675
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... OMIM:617935
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Focal impaired awareness seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Statu... OMIM:613970
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254534
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Limb hypertonia, Atrial septal defe... OMIM:620070
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Hydrops fetalis, Atrial septal defect, Ascites OMIM:608776
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Myoclonic seizure, Second degree atrioventricular block, Pulmonary arterial hypertension, Bilater... OMIM:615474
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure, Pachygyria ORPHA:329329
Kearns-Sayre Syndrome
Arrhythmia, Cardiomyopathy, Third degree atrioventricular block, Seizure OMIM:530000
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Hypocomplementemic Urticarial Vasculitis
Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Pericardial effusion ORPHA:36412
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy... ORPHA:98855
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Developmental And Epileptic Encephalopathy 47
Focal-onset seizure, Tonic seizure, Hypsarrhythmia, EEG abnormality, Bilateral tonic-clonic seizu... OMIM:617166
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera... ORPHA:289266
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Infantile spasm... OMIM:618012
Congenital Enterovirus Infection
Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrops fetalis, Pe... ORPHA:292
Rhizomelic Chondrodysplasia Punctata, Type 5
Convulsive status epilepticus, Sinus tachycardia, Seizure OMIM:616716
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Polyhydramnios, Patent foramen ovale, Ventricular sept... OMIM:620519
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Abnormal heart valve morphology, Polyhydramnios, Ventr... ORPHA:363705
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Anasarca, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, A... OMIM:261740
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Atrial flutter OMIM:160900
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Congestive heart failure, Generalized-onset seizure, Tricuspid regurgitatio... OMIM:620066
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Focal-onset seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... OMIM:301058
D-Glyceric Aciduria
Seizure, Focal clonic seizure, Myoclonus, Hypsarrhythmia, Bilateral tonic-clonic seizure, Bradyca... OMIM:220120
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Epileptic spasm, Status epilepticus without prominent motor symptoms, Generali... OMIM:617105
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Typical absence seizure, Seizure, EEG with generalized slow activity, Abnormal... ORPHA:168491
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Supraventricular ... ORPHA:98863
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT... ORPHA:26793
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Coenzyme Q10 Deficiency, Primary, 5
Seizure, Bradycardia OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Seizure, Sinus bradycardia OMIM:619482
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Cardiomyopathy, Heart block ORPHA:98912
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Polymicrogyria ORPHA:250972
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, Epileptic spasm, EEG with burst suppression, Generalized tonic sei... OMIM:612164
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... OMIM:619428
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Primary Intestinal Lymphangiectasia
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Edema ORPHA:90362
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Myoclonic seizure, Seizure, Cardiomyopathy, Infantile spasms, Tonic seizure... OMIM:600721
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Alpha-Thalassemia
Pericardial effusion, Generalized edema, Hydrops fetalis, Pleural effusion ORPHA:846
Alkuraya-Kucinskas Syndrome
Arthrogryposis multiplex congenita, Pleural effusion, Camptodactyly, Pericardial effusion, Edema OMIM:617822
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Pericardial effusion, Ventricular septal defect OMIM:618775
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Acute Interstitial Pneumonia
Pericardial effusion, Peripheral edema, Pleural effusion ORPHA:79126
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Myositis, Pericardial effusion, Edema ORPHA:93552
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Periorbital edema, Joint contracture of the hand, Lymphedema, Pleural effusion, Ventricular septa... OMIM:235510
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Seizure, Bradycardia OMIM:609286
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pulmonary edema, Pleural effusion, Pedal edema ORPHA:199241
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
EEG with generalized epileptiform discharges, Seizure, Polymicrogyria, EEG abnormality, Bilateral... ORPHA:488613
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Ascites, Left ventricular hypertrophy, Pericardial effusion, Edema, Perica... OMIM:619487
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block ORPHA:589821
Combined Oxidative Phosphorylation Defect Type 39
Seizure, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Bradycardia ORPHA:565624
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Hypsarrhythmia, Seizure, Bradycardia OMIM:610768
Pseudo-Torch Syndrome 2
Seizure, Polymicrogyria, Bradycardia, Cerebral hemorrhage, Gray matter heterotopia OMIM:617397
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Fetal Akinesia Deformation Sequence 1
Small placenta, Increased nuchal translucency, Short umbilical cord, Decreased fetal movement, No... OMIM:208150
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Focal myoclonic seizure, Seizure, Hypertrophic cardiomyopat... ORPHA:3208
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Nocturnal seizures, Bilate... ORPHA:98784
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Myoclonic seizure, EEG with focal sharp slow waves, Tonic seizure, Hypsarrhythmia, Bilateral toni... OMIM:619983
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Ascites, Polyhydramnios, Pleural effusion, Pericardial effusion OMIM:618183
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Fabry Disease
Atrioventricular block, Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle br... ORPHA:324
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Atrophoderma Vermiculata
Heart block ORPHA:79100
Glutamine Deficiency, Congenital
Seizure, Bradycardia OMIM:610015
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Status epilepticus, Seizure, Bradycardia OMIM:619272
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Flexion contracture, Edema, Peri... OMIM:212065
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Poems Syndrome
Pericardial effusion, Pleural effusion, Edema, Ascites ORPHA:2905
Q Fever
Abnormal heart valve morphology, Pleural effusion, Myocarditis, Pericardial effusion, Endocarditi... ORPHA:781
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Pachygyria, Atrioventricular block ORPHA:93317
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... ORPHA:77261
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Frontal polymicrogyria, Focal impaired awareness seizure, Bilateral tonic-clonic s... OMIM:300607
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ... OMIM:115195
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Short umbilical cord, Decreased fetal movement, Neonatal death, ... OMIM:256520
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes... ORPHA:64280
Alg9-Cdg
Hypoplasia of the musculature, Abnormal heart morphology, Oligohydramnios, Ventricular septal def... ORPHA:79328
Lafora Disease
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... ORPHA:501
Restrictive Dermopathy
Small placenta, Large placenta, Short umbilical cord, Decreased fetal movement, Premature deliver... ORPHA:1662
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Seizure, Bradycardia ORPHA:221098
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy ORPHA:329336
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Umbilical hernia ORPHA:254528
Kaposiform Lymphangiomatosis
Pericardial effusion, Pleural effusion ORPHA:464329
Mucopolysaccharidosis Type 3
Reduced left ventricular ejection fraction, Atrioventricular block, Seizure ORPHA:581
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Camptodactyly, Pericardial effusion, Patent ductus arteriosus, P... ORPHA:1272
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Palpitations, Shortened PR interval, Prolonged QT interval,... ORPHA:79102
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Camptodactyly of finger, Pericardial effusion, Hydrops fetalis ORPHA:2136
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension ORPHA:525731
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication OMIM:259900
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Pulmonary edema, Dilated cardiomyopathy ORPHA:73224
Cap Myopathy
Sinus tachycardia, Reduced systolic function ORPHA:171881
Glycogen Storage Disease Iv
Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Myhre Syndrome
Aortic valve stenosis, Skeletal muscle hypertrophy, Ventricular septal defect, Atrial septal defe... OMIM:139210
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse ORPHA:536532
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Holt-Oram Syndrome
Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... OMIM:142900
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Premature birth ORPHA:254519
Aicardi-Goutieres Syndrome 7
Hypertrophic cardiomyopathy, Oligohydramnios, Limb hypertonia, Pericardial effusion, Edema OMIM:615846
Early Infantile Epileptic Encephalopathy
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:1934
Illum Syndrome
Bradycardia OMIM:208155
Congenital Syphilis
Large placenta, Hydrops fetalis, Premature birth ORPHA:499009
Greenberg Dysplasia
Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neonatal death, Stillbi... OMIM:215140
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Edema ORPHA:167
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Encephalitis Lethargica
Seizure, Bradycardia ORPHA:83600
Lujo Hemorrhagic Fever
Hypotension, Seizure, Shock, Bilateral tonic-clonic seizure, Bradycardia, Myocarditis, Subconjunc... ORPHA:319213
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Atrial Septal Defect 1
Aortic valve stenosis, Second degree atrioventricular block OMIM:108800
Lymphangioleiomyomatosis
Ascites, Chylothorax, Chylopericardium, Lymphedema ORPHA:538
Trichohepatoenteric Syndrome 1
Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord OMIM:222470
Mosaic Trisomy 16
Large placenta, Single umbilical artery, Premature birth ORPHA:1708
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Glycogen Storage Disease Ii
Sinus tachycardia, Shortened PR interval, Subarachnoid hemorrhage, Right axis deviation, Wolff-Pa... OMIM:232300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Polymicrogyria, Seizure, Abnormality of neuronal migration, Arrhythmia, Pachygyri... ORPHA:228308
Sepsis In Premature Infants
Tachycardia, Hypotension, Seizure, Bradycardia ORPHA:90051
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Mucopolysaccharidosis, Type Vi
Sinus tachycardia, Seizure, Cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Mitral... OMIM:253200
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Meier-Gorlin Syndrome 7
Second degree atrioventricular block, Heart block OMIM:617063
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Bundle branch block, Third degree atrioventricular block, Pulmonic s... OMIM:151100
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Seizure, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... ORPHA:99104
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... OMIM:614008
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Seizure, Abnormal T-wave, ST segment dep... ORPHA:466650
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Restrictive Dermopathy 1
Premature rupture of membranes, Spontaneous chorioamniotic separation, Hydropic placenta, Oligohy... OMIM:275210
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Raynaud phenomen... ORPHA:358
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Seizure, Congestive he... ORPHA:3385
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Hypertension, Third degree atrioventricular block, Dilated cardi... OMIM:619573
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Ascites, Polyhydramnios, Cardiomegaly, Pericardial effusion, Hydrops fet... ORPHA:51608
Tsh-Secreting Pituitary Adenoma
Pericardial effusion ORPHA:91347
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Seizure, Hemifacial spasm, Bundle branch block, Congestive h... ORPHA:466677
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Oligohydramnios, Breech presentation, Single umbilical a... OMIM:249000
Leptospirosis
Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor... ORPHA:509
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Crimean-Congo Hemorrhagic Fever
Myocarditis, Pericardial effusion, Ascites ORPHA:99827
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Refsum Disease
Cardiomyopathy, Heart block ORPHA:773
Yellow Fever
Seizure, Shock, Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Hemateme... ORPHA:99829
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Seizure, Shock, Capillary leak, Internal hemorrhage, Bra... ORPHA:99826
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Umbilical hernia, Large placenta, Polyhydramnios, Premature birth ORPHA:116
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Supr... ORPHA:280365
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large placenta, Spinal dysraphism, Polyhydramnios, Premature birth ORPHA:96334
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Bohring-Opitz Syndrome
Seizure, Bradycardia ORPHA:97297
3-Methylglutaconic Aciduria, Type Viii
Seizure, Bradycardia OMIM:617248
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Cartilage-Hair Hypoplasia
EEG abnormality, Cardiomyopathy, Heart block ORPHA:175
Dermatomyositis
Vasculitis, Sinus tachycardia, Arrhythmia, Pulmonary arterial hypertension, Telangiectasia of the... ORPHA:221
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged QRS complex, Supraventri... ORPHA:273
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Seizure, Bradycardia ORPHA:79404
Primary Hyperoxaluria
Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block ORPHA:416
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Scimitar Syndrome
Congestive heart failure, Pulmonary arterial hypertension, Left-to-right shunt, Heart block ORPHA:185
Pmm2-Cdg
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Pericardial effus... ORPHA:79318
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Pulmonary insufficiency, Pulmonary arterial hypertension, Bradycardia OMIM:614437
Sarcoidosis
Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ... ORPHA:797
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Tendon xanthomatosis, Abnormal tendon morphology ORPHA:391665

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 Senp2

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 Senp2.

No publications found that use IMPC mice or data for Senp2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Senp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Senp2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Senp2tm2(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Senp2em1(IMPC)Marc Indel Mice

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