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Gene: Cacna1d MGI:88293

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
calcium channel, voltage-dependent, L type, alpha 1D subunit
Synonyms:
8430418G19Rik,  Cacnl1a2,  Cav1.3alpha1,  D-LTCC,  Cchl1a2,  Cchl1a,  C79217

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 Cacna1d 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.

The table below shows human diseases associated to Cacna1d by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment OMIM:614896
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Hypokalem... ORPHA:369929
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Hypokalemia, Athetosis, Pulmonary arterial hy... OMIM:615474

The table below shows human diseases predicted to be associated to Cacna1d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment OMIM:614896
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... ORPHA:101016
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Familial Atrial Fibrillation
Atrial fibrillation, Myocardial infarction, Vertigo, Syncope, Palpitations ORPHA:334
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Vertigo, Syncope, Arrhythmia ORPHA:871
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Nathalie Syndrome
Sensorineural hearing impairment, Arrhythmia ORPHA:2663
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva... ORPHA:542306
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... OMIM:601419
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Aminoacylase 1 Deficiency
Cerebellar atrophy, Sensorineural hearing impairment, Cerebral atrophy, Bradycardia, Cerebral cor... OMIM:609924
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Bradycardia, Brain atrophy, Atrophy/Degeneration affecting the brainstem, Hypertrophic ... OMIM:616277
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Vertigo, Congestive... ORPHA:1344
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Sudden cardiac death, Left ventricular outflow tract obstruction, Concentric... OMIM:619402
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Elevated circulating cr... OMIM:310300
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... OMIM:616812
Catecholaminergic Polymorphic Ventricular Tachycardia
Vertigo, Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Simplified gyral pattern, Atrioventricular block, Prominent antihelix, Bradycardia, Dystonia, Mac... OMIM:614407
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Deafness, Autosomal Recessive 2
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment OMIM:600060
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Atrial fibrillation, Elevated left ventricular end-di... OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Kearns-Sayre Syndrome
Third degree atrioventricular block, Hearing impairment ORPHA:480
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Syncope... OMIM:220400
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... OMIM:611705
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block ORPHA:85447
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy, Sinus bradycardia, Hypsarrhythmia... OMIM:618397
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... OMIM:181350
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Optic atrophy, Supraventricular arrhythmia ORPHA:320360
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Sensorineural hearing impairment, Dilated cardiom... OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial fibrillation OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation OMIM:613876
Nathalie Syndrome
Abnormal EKG, Hearing impairment OMIM:255990
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Diffuse cerebral atrophy, Bradycardia ORPHA:2898
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Simplified gyral pattern, EEG abnormality, Bradycardia, Hypertrophic card... OMIM:618815
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Vertigo, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... OMIM:608758
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Vertigo, Ventricular tachycardia, Premature ventricular con... OMIM:614916
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Sensorineural hearing impairment, Tachycardia OMIM:221400
Congenital Myopathy 24
Cardiomyopathy, Abnormal circulating creatine kinase concentration, Facial palsy, First degree at... OMIM:617336
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Jervell And Lange-Nielsen Syndrome
Syncope, Bilateral sensorineural hearing impairment, Torsade de pointes, Arrhythmia, Prolonged QT... ORPHA:90647
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... OMIM:115195
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Cerebral atrophy, Facia... OMIM:160900
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Prematu... OMIM:612347
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Cardiomyopathy, Abnormal left ventricular function ORPHA:98912
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Atrial fibrillation OMIM:614676
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Mildly elevated creatine kinase OMIM:620265
Variegate Porphyria
Tachycardia OMIM:176200
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Mitochondrial Complex I Deficiency, Nuclear Type 13
Generalized dystonia, Cardiac arrest, Cerebral atrophy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Decreased plasma free carnitine, Bradycardia, Brain atrophy, Hyperalani... OMIM:619048
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Hyperglutaminemia, Hyperprolinemia, Bradycardia, Dystonia, Pulmonary arterial... OMIM:616299
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Tachycardia, Tremor, Sensorineural hearing impairment, Absence of acoustic ref... OMIM:619737
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Cerebral atrophy, Bradycardia, Dystonia, Hyperalaninemia OMIM:614654
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Non-Functioning Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Cranial... ORPHA:94080
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atri... OMIM:212138
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Atrial fibrillation, Right ventricular cardiomyopathy, Congestive heart ... OMIM:115250
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:255100
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... OMIM:601005
Leber Hereditary Optic Neuropathy
Postural tremor, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Arrhythmia ORPHA:104
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation OMIM:615377
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia, Opisthotonus OMIM:619814
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Sensorineural hearing impairment OMIM:208750
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... OMIM:614980
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Danon Disease
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he... OMIM:300257
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Ele... ORPHA:79230
Abnormal Hair, Joint Laxity, And Developmental Delay
Recurrent otitis media, Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Acitretin/Etretinate Embryopathy
Cupped ear, Microtia, Bradycardia, Third degree atrioventricular block, Bilateral sensorineural h... ORPHA:40366
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration OMIM:613205
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Progressive hearing impairmen... OMIM:614296
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hyperammonemia, Bradycardia, Dystonia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614702
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cerebral atrophy, Cardiomyopathy, Progressive hearing impairment, Bradycardia, Arrhythmia OMIM:609286
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Head tremor, Limb dystonia, Arrh... OMIM:614860
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Aortic valve stenosis, Atrial fibrillation OMIM:617912
Atrophoderma Vermiculata
Heart block ORPHA:79100
D-Glyceric Aciduria
Optic nerve hypoplasia, Sensorineural hearing impairment, Nonketotic hyperglycinemia, Hypsarrhyth... OMIM:220120
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Vertigo, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy... ORPHA:263297
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Aganglionic megacolon, Posteriorly rotated ears, Cupped ear, Hypertension, Abnormal ... OMIM:613870
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Opisthotonus, Hypertensi... ORPHA:3299
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic... ORPHA:276608
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... ORPHA:453533
Muscle Filaminopathy
Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right bundle branch b... ORPHA:171445
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Tachycardia, Abnormal circulating tryptophan concent... ORPHA:79155
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Vertigo, Recurrent pancreatitis, Type II diabetes mellitus, In... OMIM:619290
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
EEG with burst suppression, Optic atrophy, Abnormal autonomic nervous system physiology, Bradycar... OMIM:614498
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Abnormal circulating thyroglobulin... ORPHA:95716
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Hearing abnormality, Abnormality of the p... ORPHA:97279
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal autonomic nervous system ... ORPHA:330001
Glutamine Deficiency, Congenital
Hypoglutaminemia, Hyperammonemia, Bradycardia, Brain atrophy, Low-set ears OMIM:610015
Kearns-Sayre Syndrome
Cardiomyopathy, Sensorineural hearing impairment, Third degree atrioventricular block, Arrhythmia OMIM:530000
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Hypertrophic car... ORPHA:276556
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Pulsatile tinnitus, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... OMIM:615745
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:300376
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Increased C-peptide level, Episodic hyperhidrosis, Hyper... ORPHA:276575
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Cln3 Disease
Cerebellar atrophy, Optic atrophy, T-wave inversion, Generalized cerebral atrophy/hypoplasia, Bra... ORPHA:228346
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... ORPHA:79299
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Acquired Methemoglobinemia
Tachycardia, Vertigo, Syncope, Palpitations, Arrhythmia ORPHA:464453
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Increased C-peptide level, Episodic h... ORPHA:276580
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Sensorineural hearing im... ORPHA:49827
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation OMIM:616166
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98855
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Hypomagnesemia, Vertigo, Hypermagnesemia, Low-to-norma... ORPHA:358
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Pulsatile tinnitus, Palpitations, Conductive hearing impairment, Hypertension associ... OMIM:168000
Naxos Disease
Sudden cardiac death, Congestive heart failure, Vertigo, Cardiomyopathy, Paroxysmal ventricular t... ORPHA:34217
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... ORPHA:26793
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... ORPHA:1880
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Abnormal left ventricu... ORPHA:75249
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Cardiac arrest, Elevated circulating creatine kinase concentration, Elevated circulatin... OMIM:616878
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98853
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... OMIM:255160
Glossopharyngeal Neuralgia
Ear pain, Cranial nerve compression, Jaw claudication, Abnormal glossopharyngeal nerve morphology... ORPHA:221098
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Hypokalem... ORPHA:369929
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Failure to thrive OMIM:238340
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Increased C-pept... ORPHA:324575
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98863
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Long hairs growing from helix of pinn... ORPHA:79273
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Corpus callosum atrophy, Leg dystonia, Ce... ORPHA:565624
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Cranial... ORPHA:276621
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Tachycardia, Interictal EEG abnormality, Cerebral atrophy ORPHA:79264
Maternally-Inherited Diabetes And Deafness
Congestive heart failure, Sensorineural hearing impairment, Hypertension, Hypertrophic cardiomyop... ORPHA:225
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Vertigo, Cranial nerve compression, Abnormality of the t... ORPHA:268882
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hypokalemia, Palpitations OMIM:188580
Mcleod Syndrome
Atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, ... OMIM:300842
Orthostatic Hypotension 1
Hypomagnesemia, Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen OMIM:223360
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Opisthotonus, Bradycardia, Pulmona... OMIM:619272
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Wolfram-Like Syndrome
Diabetes mellitus, Abnormal pinna morphology, Congenital sensorineural hearing impairment, Optic ... ORPHA:411590
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Hypokalemia OMIM:613239
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Mildly reduced left ventricular ejection fraction, Elevated circulating creat... OMIM:618098
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Cardiomyopathy, Abnormal atrioventricular conduction, Hearing impairment ORPHA:329336
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Right bundle branch b... ORPHA:206559
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Dystonia, ... OMIM:300475
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... ORPHA:3092
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Generalized dystonia, Dilated cardiomyopathy, Cerebral atrophy, Hypsarrhythmia, Neur... OMIM:618321
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Lim... ORPHA:420492
Phosphoribosylpyrophosphate Synthetase Superactivity
Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia ORPHA:3222
High Altitude Pulmonary Edema
Vertigo, Tachycardia ORPHA:330012
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... ORPHA:449285
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Pediatric-Onset Graves Disease
Atrial fibrillation, Tremor, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia ORPHA:525731
Rigid Spine Syndrome
Cardiac conduction abnormality ORPHA:97244
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... OMIM:613327
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171420
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Increased total bilirubin ORPHA:90037
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Atrial fibrillation, Facial palsy, Elevated circulating creat... ORPHA:254892
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Tremor, Shortened PR int... ORPHA:79102
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Refsum Disease
Heart block, Cardiomyopathy, Sensorineural hearing impairment ORPHA:773
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level ORPHA:264675
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Sensorineural hearing impairment, Adult onset sensorineural ... ORPHA:1368
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Second degree atrioventricular block, EEG abnormality, Hypoalbuminemia, Pulmonary a... OMIM:617021
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, Br... OMIM:618775
Mercury Poisoning
Tachycardia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia ORPHA:330021
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Elevated circulating creatine kinase concentrati... OMIM:600649
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:300695
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Wolff-Parkinson-White syndrome, Sensorineural hearing impairment, Optic atrophy, Arm dystonia, Dy... OMIM:601338
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, EEG w... OMIM:261740
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Abnormal circulating fatty-acid concentration, Tremor, H... ORPHA:263455
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... ORPHA:1215
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... OMIM:602668
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Homozygous 11P15-P14 Deletion Syndrome
Congenital sensorineural hearing impairment, Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Cranial... ORPHA:29072
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c... ORPHA:368
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Arrhythmia ORPHA:99944
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Athetosis, Decreased body we... OMIM:614559
Stiff-Person Syndrome
Hypertension, Tachycardia, Exaggerated startle response, Opisthotonus OMIM:184850
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Hypsarrhythmia OMIM:610768
Tularemia
Tachycardia, Otitis media ORPHA:3392
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Facial palsy, Elevated circulating creatine kinase concentration,... OMIM:164310
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Posteriorly rotated ears, Low-set ears, Hyperalaninemia, Hypertro... OMIM:618378
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Infantile Refsum Disease
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Elevated circulating phytanic acid... ORPHA:772
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... OMIM:614473
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Supraventricular ... ORPHA:97214
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Oculogyric crisis,... ORPHA:94093
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria, Bradycardia, Cerebral hemorrhage OMIM:617397
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
16P12.1P12.3 Triplication Syndrome
Large earlobe, Tachycardia, Low-set ears ORPHA:485405
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Low-set ears, Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypop... ORPHA:65288
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:309930
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Failure to thrive, Abnormal auditory evoked potenti... ORPHA:99852
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Pulsatile tinnitus, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Retinitis Pigmentosa
Sensorineural hearing impairment, Hyperinsulinemia, Obesity, Optic atrophy, Hypogonadism, Type II... ORPHA:791
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Aortic v... ORPHA:324410
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Raynaud phenomen... OMIM:611773
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Small for gestational age, Hypoglycemia, Sensorineu... ORPHA:79237
Double Outlet Right Ventricle
Tachycardia, Abnormality of cartilage of external ear, Heart murmur, Hypocalcemia, Pulmonic stenosis ORPHA:3426
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia OMIM:141000
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Relapsing Fever
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... ORPHA:91547
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Superficial Siderosis
Cerebellar atrophy, Atrophy of the spinal cord, Vertigo, Abnormality of the vestibulocochlear ner... ORPHA:247245
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Hypokalemia, Athetosis, Pulmonary arterial hy... OMIM:615474
Perlman Syndrome
Hepatomegaly, Posteriorly rotated ears, Cryptorchidism, Abnormal pancreas morphology, Hyperinsuli... ORPHA:2849
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Optic neuropathy, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Atriovent... OMIM:259900
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Pachygyria, Atrioventricular block ORPHA:93317
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... OMIM:246200
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Carcinoid tumor, Abnormality of the auditory ... ORPHA:100084
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage, Opisthotonus ORPHA:335
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d... ORPHA:52368
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block ORPHA:589821
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Familial Isolated Dilated Cardiomyopathy
Sensorineural hearing impairment, Dilated cardiomyopathy, Elevated circulating creatine kinase co... ORPHA:154
Partial Atrioventricular Septal Defect
Atrial flutter, Angina pectoris, Transient ischemic attack, Heart murmur, Mitral regurgitation, S... ORPHA:1330
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Cap Myopathy
Reduced systolic function, Facial palsy, Sinus tachycardia ORPHA:171881
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Heart block, Elevated circulating acylcarniti... ORPHA:228308
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular ... OMIM:620066
Serotonin Syndrome
Tachycardia, Tremor, Hypertension, Hypotension, Abnormality of the autonomic nervous system ORPHA:43116
Necrotizing Enterocolitis
Shock, Hyponatremia, Bradycardia, Hypotension ORPHA:391673
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Hypertension, Atrioventricular block ORPHA:371428
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairm... ORPHA:3085
Autoimmune Hypoparathyroidism
Prolonged QT interval, Abnormal left ventricular function, Hypocalcemic seizures, Hyperphosphatem... ORPHA:36913
Charcot-Marie-Tooth Disease, Type 4K
Sensorineural hearing impairment, Axonal loss, Dystonia, Peripheral demyelination, Hearing impair... OMIM:616684
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Porphyria Variegata
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Abnormal a... ORPHA:79473
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality o... ORPHA:93111
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Left bundle... OMIM:610131
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Elevated circulating creatine kinase concentration, Left ventricular outflow tract obstruction, S... ORPHA:308552
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Vertigo, Sensorineural hearing impairment, Palpitations, B... ORPHA:91355
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia, Low-set ears OMIM:614653
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
3-Methylglutaconic Aciduria, Type Viii
Tremor, Sensorineural hearing impairment, Cerebral atrophy, Bradycardia, Dystonia OMIM:617248
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... ORPHA:2126
Rhizomelic Chondrodysplasia Punctata, Type 5
Sinus tachycardia OMIM:616716
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Posteriorly rotated ears, Pulmonic stenosis, Low-set ears, Conductive hearing impairment, Arrhyth... OMIM:617877
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... ORPHA:57777
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Encephalitis Lethargica
Tremor, Bradycardia ORPHA:83600
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Optic atrophy, Cardiomyopathy ORPHA:1177
Carnitine-Acylcarnitine Translocase Deficiency
Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concentration, Ventri... ORPHA:159
Cholera
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo... ORPHA:173
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Sensorineural hearing impairment, Optic atrophy, Arrhythmia OMIM:249270
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Bilateral facial palsy, Elevated circulating creatine kinase concentra... ORPHA:254361
Refsum Disease, Classic
Congestive heart failure, Sensorineural hearing impairment, Elevated circulating phytanic acid co... OMIM:266500
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia, Mildly elevated creatine kinase OMIM:620351
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... ORPHA:280356
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Sensorineura... ORPHA:581
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Ventricular tachycardia, Hyperkalemia, Premature ventricula... ORPHA:423
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Elevated circulating creatine kinase concentration, Sudden cardiac death, Dilated ca... OMIM:614921
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Right bundle branch block... OMIM:616479
Heart Block, Congenital
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... OMIM:234700
Hyperthyroidism, Nonautoimmune
Tachycardia, Increased circulating thyroglobulin level OMIM:609152
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
20P12.3 Microdeletion Syndrome
Thickened helices, Microtia, Wolff-Parkinson-White syndrome ORPHA:261295
Gitelman Syndrome
Prolonged QT interval, Vertigo, Ventricular tachycardia, Hypokalemia, Increased circulating renin... OMIM:263800
Familial Dysautonomia
Hyponatremia, Orthostatic hypotension, Tachycardia, Optic atrophy, Hypertension ORPHA:1764
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Tremor, Optic atrophy, Shortened PR interval, ... OMIM:614947
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology ORPHA:71273
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, EEG abnormality, Incr... ORPHA:1227
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Meier-Gorlin Syndrome 7
Heart block, Sensorineural hearing impairment, Second degree atrioventricular block, Microtia, Lo... OMIM:617063
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level, Bradycardia ORPHA:90673
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Proximal Spinal Muscular Atrophy
Facial diplegia, Bradycardia ORPHA:70
Full Schwannomatosis
Bilateral vestibular schwannoma, Schwannoma, Peripheral schwannoma, Tinnitus, Hearing impairment ORPHA:93921
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Caudate atrophy, Hypertriglyceridemia, Tremor, Insulin resistance, Hyperinsulinemia... ORPHA:363400
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Craniometaphyseal Dysplasia
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... OMIM:604367
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Peripheral axonal neuropathy, Sensorineural hearing impairment, Short-segment aganglionic megacolon OMIM:619465
Leopard Syndrome 1
Bundle branch block, Posteriorly rotated ears, Sensorineural hearing impairment, Protruding ear, ... OMIM:151100
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Tin... ORPHA:231625
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Glycosuria, Pancreatic hypoplasia, Hyp... ORPHA:99885
Primary Hyperoxaluria
Optic disc pallor, Hyperoxaluria, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atro... ORPHA:416
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Pos... ORPHA:369873
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Obesity OMIM:620195
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Sepsis In Premature Infants
Tachycardia, Elevated circulating C-reactive protein concentration, Bradycardia, Hypotension ORPHA:90051
Noonan Syndrome With Multiple Lentigines
Low-set, posteriorly rotated ears, Bundle branch block, Myocardial infarction, Sensorineural hear... ORPHA:500
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated... ORPHA:480864
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Failure to thrive, Diabetes mellitus, De... ORPHA:456312
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... ORPHA:71529
Acromesomelic Dysplasia 4
Third degree atrioventricular block, Low-set ears OMIM:619636
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, EEG with generalized epileptiform discharges, As... ORPHA:35878
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Lujo Hemorrhagic Fever
Shock, Resting tremor, Elevated circulating C-reactive protein concentration, Myocarditis, Subcon... ORPHA:319213
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Myocarditis, Elevated cir... ORPHA:36234
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... ORPHA:439
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Leber Optic Atrophy
Postural tremor, Optic neuropathy, Optic atrophy, Dystonia, Arrhythmia OMIM:535000
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Sensorineural hearing impairment, Syncope OMIM:608088
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Bradycardia, Neonatal hyperbiliru... ORPHA:90674
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter OMIM:601927
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Sensorineural hearing impairment, Bradycardia, Optic nerve hypoplasia, Abnormal circulating thyro... ORPHA:226307
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebellar atrophy, Tricuspid regurgitation, Optic atrophy, Right bundle branch block, Mitral reg... OMIM:619576
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Right bundle branch block, Brac... ORPHA:268
Rh Deficiency Syndrome
Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Intention tremor ORPHA:504476
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Calcinosis, Angina pectoris, Tela... ORPHA:93672
Acute Intermittent Porphyria
Hyponatremia, Hypertension, Tachycardia, Tremor ORPHA:79276
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Ab... ORPHA:3208
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Aganglionic megacolon, Heart block, Cardiomyopathy, EEG abnorm... ORPHA:175
Leptospirosis
Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctiv... ORPHA:509
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia ORPHA:329249
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Optic atrophy, Mitral regurgitati... ORPHA:505248
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Benign Schwannoma
Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwannoma, Abnormality of the... ORPHA:252164
Graft Versus Host Disease
Tachycardia, Hyperbilirubinemia ORPHA:39812
Friedreich Ataxia
Abnormal EKG, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopathy, Decreased sen... OMIM:229300
Aceruloplasminemia
Torticollis, Diabetes mellitus, Decreased circulating ceruloplasmin concentration, Decreased circ... ORPHA:48818
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Alstrom Syndrome
Hepatomegaly, Decreased HDL cholesterol concentration, Chronic active hepatitis, Hypergonadotropi... OMIM:203800
Schwannomatosis, Vestibular
Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas, Unilat... OMIM:101000
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia, Aganglionic megacolon ORPHA:2151
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Elevated circulating creatine kinase concentration, Vertigo, Hyperkalemia,... ORPHA:466650
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Elevated circulating creatine kinase concentration, EEG with burst suppression, S... OMIM:617713
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Prolonged... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Prolonged... ORPHA:529799
Progeria-Short Stature-Pigmented Nevi Syndrome
Progressive sensorineural hearing impairment, Supraventricular arrhythmia ORPHA:2959
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma OMIM:162260
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Elevated circulating creatine kinase concentration, Premature ventricular contraction OMIM:617072
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Abnormal pinna morphology, Bradycardia, Low-set ears OMIM:614437
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat... OMIM:310200
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Elevated circulating creatinine concentration, Hyperk... ORPHA:340
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... OMIM:619260
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngea... ORPHA:94090
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Optic atrophy, Bradycardia ORPHA:97297
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Sensorineural hearing impairment,... ORPHA:550
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic a... ORPHA:255210
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin res... ORPHA:528
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Hyperinsulinemic hypoglycem... ORPHA:79319
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Cardiomyopathy, Mitral regurgitation, Pulmonary arterial hypertension, M... OMIM:253200
Atrial Septal Defect 1
Second degree atrioventricular block, Aortic valve stenosis OMIM:108800
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Tremor, Choreoathetosis, Cardiomyopathy, EEG abnormality, Abnorma... ORPHA:2131
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Tremor, Optic atrophy, Hypertension, Increased blood urea ni... ORPHA:90321
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Posteriorly rotated ears, Optic atrophy, Cerebral atrophy, Right bundle branc... OMIM:618590
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia OMIM:218700
Branchiootic Syndrome
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Yellow Fever
Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes... ORPHA:99829
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti... ORPHA:280365
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylas... ORPHA:99826
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
45,X/46,Xy Mixed Gonadal Dysgenesis
Low-set, posteriorly rotated ears, Prolonged QT interval, Tachycardia, Recurrent otitis media, He... ORPHA:1772
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Right ventricular failure, ... ORPHA:70591
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Congenital Sialidosis Type 2
Abnormal EKG, Optic atrophy, Telangiectasia, Low-set ears, Hearing impairment ORPHA:93400
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... OMIM:216400
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Elevated circulating creatine kinase concentration, Vasculitis, Shorte... ORPHA:365
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Elevated circulating creatine kinase concentration, Sensorineural hearing impair... ORPHA:565612
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
African Trypanosomiasis
Papilledema, Pericarditis, Abnormal EKG, Tremor, Myocarditis, Congestive heart failure, Choreoath... ORPHA:3385
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Increased circula... ORPHA:3240
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con... ORPHA:404443
Nestor-Guillermo Progeria Syndrome
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... OMIM:614008
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Failure to thrive, ... OMIM:616881
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Vertigo, Elevated circulating creatinine concentration, Sy... ORPHA:230
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Sens... OMIM:616263
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilated cardiomyopat... OMIM:619573
Tenorio Syndrome
Cerebral cortical atrophy, Hypoinsulinemia, Hypoglycemia OMIM:616260
Perlman Syndrome
Hypoglycemia, Large for gestational age, Cryptorchidism, Pancreatic islet-cell hyperplasia, Low-s... OMIM:267000
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Plague
Tachycardia, Hematemesis, Hypotension, Arrhythmia, Hearing impairment ORPHA:707
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... OMIM:226980
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Jaw cla... ORPHA:85443
Scimitar Syndrome
Heart block, Congestive heart failure, Left-to-right shunt, Pulmonary arterial hypertension ORPHA:185
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirub... OMIM:615710
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atroph... ORPHA:79330
Woodhouse-Sakati Syndrome
Streak ovary, Dystonia, Decreased response to growth hormone stimulation test, Insulin-resistant ... ORPHA:3464
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Cryptorchidis... OMIM:193700
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency, Intention tremor OMIM:619322
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentratio... OMIM:276700
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Colchicine Poisoning
Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal blood ion concentratio... ORPHA:31824
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation OMIM:619705
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Hypokalemia, Syncope, Palpitations, Low-... OMIM:170390
Legius Syndrome
Paroxysmal atrial tachycardia, Vestibular schwannoma, Pulmonic stenosis, Dystonia, Hearing impair... ORPHA:137605
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Low-set ears, Ann... ORPHA:2470
Scalp-Ear-Nipple Syndrome
Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ears, Congestive heart failure, C... OMIM:181270
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... OMIM:151660
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia, Hearing impairment OMIM:309801
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Mitral regurgitation, Atrial fibrillation, Pulmonic stenosis ORPHA:284984
Woodhouse-Sakati Syndrome
Sensorineural hearing impairment, Hyperlipidemia, Protruding ear, Choreoathetosis, Dystonia, Abno... OMIM:241080
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyperinsulinemic hypoglycemia, Failur... OMIM:602579
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Tremor, Congestive heart failure, Vertigo, Hypertension, Hypokalemia... ORPHA:91347
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... ORPHA:769
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... ORPHA:64744
Ogden Syndrome
Torticollis, Ventricular tachycardia, Cerebral atrophy, Protruding ear, Premature ventricular con... OMIM:300855
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Resting tremor, Dystonia, Abnormal auditory evoked potenti... ORPHA:909
Degcags Syndrome
Tachycardia, Posteriorly rotated ears, Sensorineural hearing impairment, Unilateral conductive he... OMIM:619488
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... OMIM:617253
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia, Abnormal blood ion concentration ORPHA:79404
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin... OMIM:608594
Trisomy 10P
Absent gallbladder, Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked... ORPHA:171929
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Pulmona... ORPHA:221
Sarcoidosis
Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Hypercalcemia, Heart bl... ORPHA:797
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... ORPHA:401973
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ... OMIM:269700
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Posteriorly rotated ears, Optic nerve hypoplasia, Right bundle branch bl... OMIM:617506
Pearson Syndrome
Cardiac conduction abnormality, Hypophosphatemia, Cardiomyopathy, Hypokalemia, Hypocalcemia, Hypo... ORPHA:699
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Protruding ear, Right bundle branch block, Low-set ears, Hypertrophic c... OMIM:617403
Leprechaunism
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Pro... ORPHA:508
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis ORPHA:3384
Loeys-Dietz Syndrome 3
Mitral regurgitation, Atrial fibrillation, Pulmonic stenosis, Subarachnoid hemorrhage OMIM:613795
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Abnormality of pe... OMIM:601992
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... OMIM:137920
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Hearing impairment OMIM:613254
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... ORPHA:3260
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperl... OMIM:248370
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cardiac conduction abnormality, Sensorineural hearing impairment, EEG abnormality, Pulmonic steno... ORPHA:353281
Simpson-Golabi-Behmel Syndrome
Low-set, posteriorly rotated ears, Bundle branch block, Prolonged QT interval, Cardiomyopathy, Ab... ORPHA:373
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Atrial reentry tachycardia, Cerebral atrophy OMIM:270100
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Marshall-Smith Syndrome
Optic nerve hypoplasia, Cerebral atrophy, Premature ventricular contraction, Macrogyria, Hyperten... OMIM:602535
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Low-s... OMIM:215140
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Aganglionic megacolon, Posteriorly rotated ears, Pe... OMIM:270400
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Otosclerosis, Hypoglycemia, Elevated circulating alpha-f... ORPHA:116
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Low-set ears, Right bundle branch block OMIM:617402
Liver Disease, Severe Congenital
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... OMIM:619991
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Abnormality of the thyroid gland, Retroperitoneal fibrosis, Abnormal p... ORPHA:449432
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... ORPHA:99125
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cardiac conduction abnormality, Sensorineural hearing impairment, EEG abnormality, Low-set ears, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cardiac conduction abnormality, Sensorineural hearing impairment, EEG abnormality, Low-set ears, ... ORPHA:353277
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, External ear malformation, Increas... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, External ear malformation, Increas... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, External ear malformation, Increas... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, External ear malformation, Increas... ORPHA:99226
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Low-set ears, P... OMIM:620185
Atypical Werner Syndrome
Hepatic steatosis, Decreased body weight, Diabetes mellitus, Failure to thrive, Hypertriglyceride... ORPHA:79474
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Anterior creases of earlobe, Pa... OMIM:312870
Pmm2-Cdg
Hypogonadotropic hypogonadism, Abnormal pinna morphology, Elevated circulating growth hormone con... ORPHA:79318

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 Cacna1d

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 Cacna1d.

No publications found that use IMPC mice or data for Cacna1d.

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
Cacna1dtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cacna1dtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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