Gene Summary

Name:
A kinase (PRKA) anchor protein 10
Synonyms:
B130049N18Rik,  1500031L16Rik,  D-AKAP2

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
preweaning lethality, incomplete penetrance Akap10tm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased hematocrit Akap10tm1.1(KOMP)Vlcg HET   Early adult 6.56×10-05
enlarged heart Akap10tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal heart morphology Akap10tm1.1(KOMP)Vlcg HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Bone  Section images heterozygote 100% (1 of 1)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote Ambiguous
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 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 Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 33.33% (2 of 6)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 33.33% (2 of 6)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 33.33% (2 of 6)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 33.33% (2 of 6)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 33.33% (2 of 6)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 33.33% (2 of 6)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 33.33% (2 of 6)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 33.33% (2 of 6)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 33.33% (2 of 6)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 33.33% (2 of 6)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 33.33% (2 of 6)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 33.33% (2 of 6)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 33.33% (2 of 6)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 33.33% (2 of 6)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 33.33% (2 of 6)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 33.33% (2 of 6)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 33.33% (2 of 6)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 33.33% (2 of 6)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 33.33% (2 of 6)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 33.33% (2 of 6)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 33.33% (2 of 6)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 577)
aorta 0.17% (1 of 582)
bone 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
esophagus 1.73% (7 of 404)
eye 0.0%
heart 0.34% (2 of 581)
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
olfactory lobe 0.35% (2 of 574)
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
striatum 0.52% (3 of 578)
testis 0.86% (5 of 581)
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
trachea 0.52% (3 of 579)
uterus 0.35% (2 of 579)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Embryo LacZ

LacZ images wholemount

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

28 Images

OPT E9.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Akap10 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Akap10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... OMIM:108770
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
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
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Ethanolaminosis
Cardiomegaly OMIM:227150
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613697
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Nathalie Syndrome
Arrhythmia ORPHA:2663
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Abnormal autonomic nervous system physiology, Sudden cardiac... ORPHA:101016
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology ORPHA:85447
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Facial p... OMIM:601419
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... OMIM:612158
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... OMIM:310300
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block OMIM:615616
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... OMIM:616201
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... OMIM:604169
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Nathalie Syndrome
Abnormal EKG OMIM:255990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... OMIM:614022
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Left Ventricular Noncompaction 8
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys... ORPHA:85451
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
Wild Type Attr Amyloidosis
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:330001
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... OMIM:601493
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Cardiomyopathy, First degree atrioventricular block OMIM:617336
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... OMIM:615745
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death OMIM:615770
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia OMIM:614498
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension, Abnormal autonomic nervous system physiology OMIM:156310
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... OMIM:613838
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia ORPHA:542306
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... OMIM:212138
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Ventricular preexcitation, Arrhythmia ORPHA:104
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 4
Left bundle branch block, Congestive heart failure, Sudden cardiac death, Syncope, Ventricular fi... OMIM:115197
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Second degree atrioventricular block, Syncope OMIM:616812
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... ORPHA:99106
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... OMIM:612124
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Abnormal atrioventricular conduction, Decreased nerve conduction velocit... OMIM:118301
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation ORPHA:90647
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Myotonic Dystrophy 1
Facial diplegia, Atrial fibrillation, First degree atrioventricular block, Atrial flutter OMIM:160900
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Dystonia 23
Arrhythmia OMIM:614860
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Neonatal Lupus Erythematosus
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dilated cardiomyopathy, Heart b... ORPHA:398124
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... OMIM:613424
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology ORPHA:168593
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia, Decreased nerve conduction velocity ORPHA:99944
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Tetanus
Abnormal autonomic nervous system physiology, Tachycardia, Autonomic bladder dysfunction, Hyperte... ORPHA:3299
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Cardiomyopathy ORPHA:320360
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Abnormal left ventricular function, Cardiomyopathy ORPHA:98912
Familial Idiopathic Dilatation Of The Right Atrium
Tricuspid regurgitation, Palpitations, Midsystolic murmur, Arrhythmia, Syncope, Atrial fibrillati... ORPHA:1677
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Illum Syndrome
Bradycardia OMIM:208155
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardiomyopathy, Apical hypertro... OMIM:613690
Obesity Due To Sim1 Deficiency
Hypotension, Abnormal autonomic nervous system physiology, Postural hypotension with compensatory... ORPHA:369873
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:1345
Heart Block, Congenital
Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Cardiomyopathy, Atrioventr... OMIM:234700
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block OMIM:609438
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia, Aganglionic megacolon ORPHA:2151
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 2
Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Right bundle branch block OMIM:115195
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Ebstein Anomaly
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... OMIM:224700
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Sudden cardiac death, Dilated cardiomyopa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98853
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Variegate Porphyria
Tachycardia OMIM:176200
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Atrophoderma Vermiculata
Heart block ORPHA:79100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachycardia, Arrhythmia, Dilated cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... ORPHA:26793
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac... ORPHA:137675
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Sudden cardiac death, Hypertrophic cardio... ORPHA:98863
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Salih Myopathy
Facial palsy, Dilated cardiomyopathy, Arrhythmia OMIM:611705
Atrioventricular Septal Defect 3
Midsystolic murmur, First degree atrioventricular block, Hypertension, Pulmonary arterial hyperte... OMIM:600309
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... OMIM:613873
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... OMIM:252320
Kearns-Sayre Syndrome
Third degree atrioventricular block, Arrhythmia, Cardiomyopathy OMIM:530000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Decreased nerve conduction velocity ORPHA:2928
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Dilated cardiomyopathy, Arrhythmia OMIM:181350
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:614702
Multiple System Atrophy
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... ORPHA:102
Caribbean Parkinsonism
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:97355
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Left ventricular outflow tract obstruction, Hypertro... ORPHA:439232
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Pure Autonomic Failure
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Syncope ORPHA:441
Glossopharyngeal Neuralgia
Cranial nerve compression, Syncope, Abnormal glossopharyngeal nerve morphology, Jaw claudication,... ORPHA:221098
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... ORPHA:422
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:225
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... ORPHA:75566
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Multiple System Atrophy, Parkinsonian Type
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... ORPHA:98933
Mahvash Disease
Palpitations OMIM:619290
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita... OMIM:618052
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con... OMIM:540000
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia OMIM:617021
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Hypertrophic cardiomyopathy, Bradycardia, Persistent fetal circulation OMIM:618775
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:602390
Riboflavin Transporter Deficiency
Abnormal autonomic nervous system physiology, Optic disc pallor, Abnormal cranial nerve morpholog... ORPHA:97229
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Second degree atrioventricular block, Hypertension, Pulmonary arterial h... ORPHA:369929
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Arrhythmia, Decreased amplitude of sensory action potentials... ORPHA:85446
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Paroxysmal supraventricular tachycardia, Bradycardia OMIM:601375
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Optic atrophy, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Prolon... OMIM:610198
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Fabry Disease
Angina pectoris, Abnormal autonomic nervous system physiology, Arrhythmia, Myocardial infarction,... OMIM:301500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Abnormal left ventricular function, Arrhythmia OMIM:618098
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrioventricular block, Arrhythmia, Myocarditis ORPHA:93317
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Multiple System Atrophy, Cerebellar Type
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... ORPHA:227510
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Arrhythmia, Cerebral ischemia, Right bundle branch block, Atrial fibrillati... ORPHA:1880
Hyperoxaluria, Primary, Type I
Intermittent claudication, Optic neuropathy, Atrioventricular block, Raynaud phenomenon, Optic at... OMIM:259900
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Dilated cardiomyopathy, Arrhythmia OMIM:615084
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, A... ORPHA:439
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Dilated cardiomyopathy, Elevated jugular venous pressure, Right bundle bran... OMIM:255160
D-Glyceric Aciduria
Optic nerve hypoplasia, Bradycardia OMIM:220120
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Hypertension, Atrioventricular block ORPHA:371428
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Tricuspid regurgitation, Premature ventricular contraction, Mitral regurgitation, First degree at... OMIM:620066
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Leber Optic Atrophy
Optic atrophy, Optic neuropathy, Arrhythmia OMIM:535000
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Variant Abeta2M Amyloidosis
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology ORPHA:314652
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure ORPHA:49827
Muscular Dystrophy, Duchenne Type
Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Cardiomyopathy, Congestive heart failure OMIM:310200
Acquired Methemoglobinemia
Palpitations, Tachycardia, Arrhythmia, Syncope ORPHA:464453
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Al Amyloidosis
Autonomic erectile dysfunction, Abnormal P wave, Abnormal autonomic nervous system physiology, Ja... ORPHA:85443
Congenital Aortic Valve Stenosis
Angina pectoris, Abnormal left ventricular function, Abnormal T-wave, Aortic valve stenosis, Abno... ORPHA:3093
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... OMIM:229300
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Bradycardia ORPHA:565624
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia OMIM:300952
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy ORPHA:329336
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Mitral... ORPHA:324
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Pulmonic stenosis, Arrhythmia, Tricuspid regurgitation ORPHA:228410
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Atrial Septal Defect 1
Second degree atrioventricular block, Aortic valve stenosis OMIM:108800
Familial Multiple Nevi Flammei
Abnormal cranial nerve morphology, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia ORPHA:624
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Abnormal autonomic nervous system physiology, Syncope ORPHA:71273
Congenital Toxoplasmosis
Anemia, Thrombocytopenia, Hepatomegaly, Cardiomegaly ORPHA:858
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Thyrotoxic Periodic Paralysis
Palpitations, Shortened PR interval, Second degree atrioventricular block, Ventricular fibrillati... ORPHA:79102
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276556
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... ORPHA:542323
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:156
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Left-to-right shunt, Systolic heart murmur, Pre... ORPHA:99104
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Polymyositis
Arrhythmia, Vasculitis, Myocardial infarction, Abnormal atrioventricular conduction, Dilated card... ORPHA:732
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
Encephalitis Lethargica
Bradycardia ORPHA:83600
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Danon Disease
Wolff-Parkinson-White syndrome, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy OMIM:300257
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Cirrhotic Cardiomyopathy
Third heart sound, Left ventricular diastolic dysfunction, Elevated pulmonary artery pressure, Ar... ORPHA:57777
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Infantile Refsum Disease
Optic atrophy, Facial palsy, Arrhythmia, Cardiomyopathy ORPHA:772
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:231625
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal autonomic nervous ... OMIM:105210
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276575
Duodenal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Increased hematocrit, Iron deficiency anemia ORPHA:100076
Neuroleptic Malignant Syndrome
Abnormal autonomic nervous system physiology, Tachycardia, Arrhythmia, Pulmonary embolism, Hypote... ORPHA:94093
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Arrhythmia, Cardiomyopathy OMIM:249270
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Paragangliomas 3
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations OMIM:605373
Cardiac Valvular Dysplasia 2
Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpitations, Systolic heart... OMIM:620067
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276580
Typhoid
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Arrhythmia ORPHA:99745
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... OMIM:169500
Familial Isolated Hypoparathyroidism
Arrhythmia ORPHA:2238
Hec Syndrome
Arrhythmia, Cardiomyopathy ORPHA:2119
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hypertension, Tachycardia, Retinal hemorrhage, Bradycardia OMIM:614653
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Abnormal autonomic nervous system physiology ORPHA:83601
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pressure, Heart murmur, Syncope,... ORPHA:275766
American Trypanosomiasis
Aganglionic megacolon, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart failure ORPHA:3386
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Proximal Spinal Muscular Atrophy
Facial diplegia, Bradycardia ORPHA:70
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, T... ORPHA:75249
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Tachycardia, Dilated cardiomyopathy, Syncope OMIM:615821
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Retinal hemorrhage, Raynaud phenomenon OMIM:611773
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Syncope ORPHA:324575
Dk1-Cdg
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:91131
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased hematocrit, Increased mean ... ORPHA:90041
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiomegaly, Increased... OMIM:603903
Acute Interstitial Pneumonia
Reduced hematocrit, Pericardial effusion ORPHA:79126
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Brachial ple... ORPHA:268
Sheehan Syndrome