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Gene: Dsg2 MGI:1196466

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Gene Summary

Name:
desmoglein 2
Synonyms:
D18Ertd293e

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
dilated heart left ventricle Dsg2tm1b(EUCOMM)Wtsi HOM   Early adult 4.31×10-06
preweaning lethality, incomplete penetrance Dsg2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased cornea thickness Dsg2tm1b(EUCOMM)Wtsi HOM Early adult 3.52×10-05
abnormal coat appearance Dsg2tm1b(EUCOMM)Wtsi HOM Early adult 7.17×10-09
decreased cardiac muscle contractility Dsg2tm1b(EUCOMM)Wtsi HOM   Early adult 2.17×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cecum 5.8% (22 of 379)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 319)
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.34% (2 of 589)
vas deferens 4.64% (18 of 388)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

9 Images

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Eye Morphology

VIP of right fundus

17 Images

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Eye Morphology

VIP of right eye

17 Images

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Eye Morphology

VIP of left eye

17 Images

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Eye Morphology

VIP of left fundus

17 Images

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Human diseases caused by Dsg2 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 Dsg2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154

The table below shows human diseases predicted to be associated to Dsg2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sudden Cardiac Failure, Alcohol-Induced
Myocardial fibrosis OMIM:617223
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613122
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... OMIM:616249
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... OMIM:608758
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Heart block, Premature ventricular contraction ORPHA:1964
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Nathalie Syndrome
Abnormal EKG OMIM:255990
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... OMIM:613255
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Naxos Disease
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... OMIM:619897
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Concentric hypert... OMIM:619402
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Atrial Standstill
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... ORPHA:1344
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... OMIM:617222
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Hirschsprung Disease, Susceptibility To, 1
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Ventricular hypertrophy,... OMIM:212138
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Left Ventricular Noncompaction 8
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Cardiomyopathy, Familial Hypertrophic, 2
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Atrial fibrillation, ... OMIM:115195
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613876
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, Cardiomyocyte hypertrophy, T-wave inversion, Vent... ORPHA:263297
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... ORPHA:217607
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Cardiomyopathy ORPHA:320360
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Nathalie Syndrome
Arrhythmia ORPHA:2663
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Increased left ventricular end-diastolic volu... OMIM:615248
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... ORPHA:85451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... OMIM:615616
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... OMIM:613874
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Cardiac Diverticulum
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cardiomyopathy OMIM:225740
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy OMIM:608099
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Myopathy, Myofibrillar, 3
Cardiomyopathy OMIM:609200
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... ORPHA:2041
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Myofiber disarray, ... OMIM:115197
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Cardiomyopathy ORPHA:63273
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hy... ORPHA:1345
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:302045
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Mitral valve prolapse, Keratoconus, Keratoglobus, Red hair, Decreased... OMIM:229200
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Abnormal left ventricular function, Cardiomyopathy ORPHA:98912
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Right bundle branch block, Left ventricular systolic dysfunction ORPHA:206559
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation ORPHA:90647
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia ORPHA:104
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Tricuspid reg... OMIM:620066
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Myocardial fibrosis, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Dilated cardiomyopathy, Elevated jugular venous pressure, Biventricular hyp... OMIM:255160
Myotonic Dystrophy 2
Palpitations, Tachycardia, Premature ventricular contraction, Right bundle branch block OMIM:602668
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... OMIM:615745
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Attrv30M Amyloidosis
Cardiomegaly, Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Myopathy, Distal, 4
Cardiomyopathy OMIM:614065
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia OMIM:616276
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Systolic heart murmur, Elevated pulmonary artery pressure, Right b... ORPHA:1329
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Pneumonia, ... ORPHA:99103
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Trimethylaminuria
Hypertension, Tachycardia, Recurrent pneumonia OMIM:602079
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... OMIM:310300
Congenital Aortic Valve Stenosis
Angina pectoris, Abnormal left ventricular function, Aortic valve calcification, Abnormal T-wave,... ORPHA:3093
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611615
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy OMIM:610100
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Hemochromatosis, Type 2A
Arrhythmia, Arthritis, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Scorpion Envenomation
Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... ORPHA:466677
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... ORPHA:99104
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... OMIM:613426
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Endocardial fibroelastosis, Congestive heart failure ORPHA:2022
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiac shunt, Abnormal mitral valve morphology, Anomalous p... ORPHA:860
Nemaline Myopathy 11, Autosomal Recessive
Cardiomyopathy, First degree atrioventricular block OMIM:617336
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Arrhythmia, Dilated car... OMIM:300257
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... OMIM:611878
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Cardiomyopathy OMIM:606842
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy ORPHA:868
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract ... ORPHA:439232
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy OMIM:609308
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval... OMIM:610198
American Trypanosomiasis
Skin rash, Arrhythmia, Myocarditis, Infectious encephalitis, Achalasia, Cardiomyopathy, Congestiv... ORPHA:3386
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Distal Myotilinopathy
Cardiomyopathy ORPHA:98911
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Muscular Dystrophy, Duchenne Type
Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Cardiomyopathy, Congestive heart failure OMIM:310200
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Cirrhotic Cardiomyopathy
Right atrial enlargement, Third heart sound, Left ventricular diastolic dysfunction, Left ventric... ORPHA:57777
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... OMIM:300635
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:225
Variegate Porphyria
Tachycardia OMIM:176200
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Dilated cardiomyopathy, Arrhythmia OMIM:181350
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Pulmonic stenosis, Mitral valve prolapse, Cor... ORPHA:90354
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy OMIM:614096
Cardiomyopathy, Familial Restrictive, 6
Pulmonic stenosis, Pulmonary insufficiency, Restrictive cardiomyopathy, Tricuspid regurgitation OMIM:619433
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Arrhythmia OMIM:614702
Rheumatic Fever
Abnormal mitral valve morphology, Sinusitis, Arrhythmia, Endocarditis, Myocarditis, Abnormal aort... ORPHA:3099
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Immune-Mediated Necrotizing Myopathy
Skin rash, Raynaud phenomenon, Palpitations, Myositis, Myocarditis, Congestive heart failure ORPHA:206569
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Prolonged QTc interval, Syncope, Bidirectional ventricular ectopy, Prominent U wave... OMIM:170390
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Effort-induced polymorphi... OMIM:600996
Immunodeficiency, Common Variable, 11
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea OMIM:615767
Hemochromatosis, Type 4
Osteoarthritis, Arrhythmia, Cardiomyopathy OMIM:606069
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... ORPHA:99095
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Salih Myopathy
Dilated cardiomyopathy, Arrhythmia OMIM:611705
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Cardiomyopathy, Cardi... OMIM:261740
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... OMIM:115250
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, R... ORPHA:75249
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... OMIM:601005
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia OMIM:300952
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... ORPHA:26790
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Polymyositis
Abnormal mitral valve morphology, Arrhythmia, Vasculitis, Arthritis, Myocardial infarction, Abnor... ORPHA:732
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy OMIM:613155
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Cardiomyopathy OMIM:619566
Distal Nebulin Myopathy
Cardiomyopathy ORPHA:399103
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pericarditis, Arthritis OMIM:609939
Atrophoderma Vermiculata
Heart block ORPHA:79100
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Serositis, Malar rash, Pericarditis, Pericardial effusion ORPHA:231111
Hec Syndrome
Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval OMIM:619040
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... OMIM:619424
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon ORPHA:767
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy OMIM:201470
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618228
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Immunodeficiency 70
Colitis, Recurrent sinusitis, Furuncle, Achalasia, Celiac disease OMIM:618969
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy OMIM:615352
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Abnormal electrophysiology of sinoatrial node origin, Keratoconus, Sinoatrial block OMIM:609438
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:604377
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy OMIM:604286
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Immunodeficiency 14B, Autosomal Recessive
Colitis, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, Chronic d... OMIM:619281
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Cardiomyopathy OMIM:301075
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure ORPHA:206546
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Arrhythmia, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy OMIM:249270
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy ORPHA:1369
Systemic Capillary Leak Syndrome
Pancreatitis, Arrhythmia, Hypotension, Myocarditis, Pericarditis ORPHA:188
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276556
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Reduced systolic function OMIM:616827
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis OMIM:604416
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy OMIM:610717
Absence Of The Pulmonary Artery
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... ORPHA:980
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy OMIM:619903
Juvenile Dermatomyositis
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Skin r... ORPHA:93672
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... OMIM:234700
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Takayasu Arteritis
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Cerebral ischemia, Vasculitis, Art... ORPHA:3287
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Crohn's disease, Tricuspid regurgitation, Bronchiectasis, Hypertr... OMIM:619705
Gne Myopathy
Cardiomyopathy ORPHA:602
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Neonatal Lupus Erythematosus
Malar rash, Skin rash, Maculopapular exanthema, Arrhythmia, Abnormal electrophysiology of sinoatr... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy OMIM:608540
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy ORPHA:329336
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Thymic Tumor
Pericarditis, Cardiac arrest ORPHA:100100
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276575
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Perianal abscess, Bronchiect... OMIM:618108
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092