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Gene: Akap10 MGI:1890218

Gene Summary

Name:

A kinase anchor protein 10

Synonyms:

B130049N18Rik, 1500031L16Rik, D-AKAP2

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	Allele	Zyg	Life Stage	P Value
enlarged heart	Akap10^{tm1.1(KOMP)Vlcg}	HET	Early adult	0.00
preweaning lethality, incomplete penetrance	Akap10^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal heart morphology	Akap10^{tm1.1(KOMP)Vlcg}	HET	Early adult	0.00
increased hematocrit	Akap10^{tm1.1(KOMP)Vlcg}	HET	Early adult	6.93×10^-05

Download data as: TSV XLS

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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	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
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	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
placenta	Ambiguous
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

OPT E9.5

Embryo reconstruction

8 Images

View images

Adult LacZ

LacZ Images Section

28 Images

View images

Embryo LacZ

LacZ images wholemount

28 Images

View 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.

Human diseases associated with Akap10 (0 diseases)
Human diseases predicted to be associated with Akap10 (699 diseases)

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	Matching phenotypes	Source
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block	ORPHA:85447
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T...	ORPHA:101016
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti...	OMIM:601419
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,...	OMIM:310300
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Cardiomyopathy	OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc...	OMIM:181350
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy	OMIM:192600
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys...	ORPHA:85451
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ...	ORPHA:330001
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Congenital Myopathy 24	Cardiomyopathy, Facial palsy, First degree atrioventricular block	OMIM:617336
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Muscular Dystrophy, Progressive Pectorodorsal	Arrhythmia	OMIM:310095
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia	OMIM:618453
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Cardiomyopathy	OMIM:309930
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Kearns-Sayre Syndrome	Third degree atrioventricular block	ORPHA:480
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Leber Hereditary Optic Neuropathy	Arrhythmia, Optic atrophy, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Danon Disease	Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac...	OMIM:300257
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Familial Atrial Fibrillation	Palpitations, Atrial fibrillation, Syncope, Myocardial infarction	ORPHA:334
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Atrioventricular block	OMIM:614407
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Monosodium Glutamate Sensitivity	Palpitations	OMIM:231630
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Dystonia 23	Arrhythmia	OMIM:614860
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest	ORPHA:168593
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Arrhythmia	ORPHA:99944
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Myotonic Dystrophy 1	Facial diplegia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block	OMIM:160900
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Illum Syndrome	Bradycardia	OMIM:208155
Tetanus	Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, Autonomic b...	ORPHA:3299
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Optic atrophy, Supraventricular arrhythmia	ORPHA:320360
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec...	ORPHA:398124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A...	ORPHA:1677
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro...	OMIM:613690
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Heart block, Cardiomyopathy, Abnormal left ventricular function	ORPHA:98912
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Symmetrical Thalamic Calcifications	Arrhythmia	ORPHA:1314
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio...	OMIM:115195
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia	OMIM:614654
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia	OMIM:614498
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Heart Block, Congenital	Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria...	OMIM:234700
Erythermalgia, Primary	Abnormal autonomic nervous system physiology, Palpitations	OMIM:133020
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:613870
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia, Aganglionic megacolon	ORPHA:2151
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Optic atrophy, Bradycardia	OMIM:614702
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Cln3 Disease	T-wave inversion, Optic atrophy, Bradycardia	ORPHA:228346
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,...	ORPHA:369873
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa...	ORPHA:98855
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Propionic Acidemia	Cardiomyopathy, Arrhythmia	ORPHA:35
Variegate Porphyria	Tachycardia	OMIM:176200
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:98853
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block	ORPHA:392
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric...	ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Optic atrophy, Cardiomyopathy	ORPHA:1177
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl...	ORPHA:98863
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Multiple System Atrophy	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:102
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Bradycardia	OMIM:609286
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block	OMIM:613158
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Prolonged PR interval	OMIM:108900
Glossopharyngeal Neuralgia	Cranial nerve compression, Jaw claudication, Abnormal glossopharyngeal nerve morphology, Syncope,...	ORPHA:221098
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Arrhythmia	ORPHA:2928
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Third degree atrioventricular block	OMIM:530000
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ...	ORPHA:263297
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Pure Autonomic Failure	Orthostatic hypotension, Syncope, Abnormal autonomic nervous system physiology	ORPHA:441
Multiple System Atrophy, Parkinsonian Type	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:98933
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Cardiomyopathy, Arrhythmia	OMIM:612999
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Arrhythmia	OMIM:616516
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Syncope, Palpit...	ORPHA:422
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Myopathy, X-Linked, With Postural Muscle Atrophy	Hypertrophic cardiomyopathy, Arrhythmia	OMIM:300696
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun...	OMIM:618052
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp...	OMIM:540000
Mahvash Disease	Palpitations	OMIM:619290
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Hypertension, Abnormal autonomic nervous system physiology, Abno...	ORPHA:97229
Hemochromatosis, Type 2A	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy	OMIM:602390
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618775
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Decreased nerve conduction velocity, Congestive heart failure, Arrhy...	ORPHA:85446
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Multiple System Atrophy, Cerebellar Type	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:227510
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia	ORPHA:157973
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block	ORPHA:589821
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Familial Thyroid Dyshormonogenesis	Bradycardia	ORPHA:95716
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension	OMIM:617021
Coproporphyria, Hereditary	Hypertension, Tachycardia	OMIM:121300
Atrial Fibrillation, Familial, 1	Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 5	Atrial fibrillation	OMIM:611494
Atrial Fibrillation, Familial, 2	Atrial fibrillation	OMIM:608988
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Ebstein Malformation Of The Tricuspid Valve	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C...	ORPHA:1880
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype...	OMIM:301500
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom...	OMIM:255160
Hyperoxaluria, Primary, Type I	Optic neuropathy, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Atrioventricular block, ...	OMIM:259900
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest...	ORPHA:439
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Arrhythmia, Mildly reduced left ventricular ejection fraction	OMIM:618098
Persistent Idiopathic Facial Pain	Abnormal autonomic nervous system physiology	ORPHA:398147
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Pseudo-Torch Syndrome 2	Bradycardia, Cerebral hemorrhage	OMIM:617397
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Papilledema, Atrioventricular block	ORPHA:371428
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Leber Optic Atrophy	Arrhythmia, Optic atrophy, Optic neuropathy	OMIM:535000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
D-Glyceric Aciduria	Optic nerve hypoplasia, Bradycardia	OMIM:220120
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr...	ORPHA:85443
Variant Abeta2M Amyloidosis	Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology	ORPHA:314652
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension	OMIM:615474
Necrotizing Enterocolitis	Shock, Bradycardia, Hypotension	ORPHA:391673
Combined Oxidative Phosphorylation Defect Type 39	Decreased nerve conduction velocity, Optic disc pallor, Bradycardia	ORPHA:565624
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Congestive heart failure, Optic atrophy, Cardiac arrest	ORPHA:49827
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at...	ORPHA:79102
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Cardiomyopathy, Abnormal atrioventricular conduction	ORPHA:329336
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis	ORPHA:228410
Friedreich Ataxia	Abnormal EKG, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopathy, Decreased sen...	OMIM:229300
Spontaneous Periodic Hypothermia	Arrhythmia	ORPHA:29822
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia	OMIM:613327
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia	OMIM:606069
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology	ORPHA:71273
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Congenital Toxoplasmosis	Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly	ORPHA:858
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke	OMIM:611773
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Abnormal cranial nerve morphology, Pulmonary embolism	ORPHA:624
Atrial Septal Defect 1	Second degree atrioventricular block, Aortic valve stenosis	OMIM:108800
Thrombotic Thrombocytopenic Purpura	Arrhythmia, Myocardial infarction	ORPHA:54057
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Carnitine Palmitoyl Transferase 1A Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Mitochondrial Dna Depletion Syndrome 11	Arrhythmia, Dilated cardiomyopathy, Facial palsy	OMIM:615084
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations	ORPHA:276556
Mitchell Syndrome	Abnormal autonomic nervous system physiology	OMIM:618960
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Optic atrophy, Facial palsy	ORPHA:772
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Abnormal autonomic nervo...	ORPHA:94093
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Arrhythmia, Optic atrophy	OMIM:249270
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut...	OMIM:169500
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Hec Syndrome	Cardiomyopathy, Arrhythmia	ORPHA:2119
Typhoid	Gastrointestinal hemorrhage, Arrhythmia, Epistaxis, Cardiac arrest	ORPHA:99745
Familial Isolated Hypoparathyroidism	Arrhythmia	ORPHA:2238
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L...	OMIM:620067
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations	ORPHA:276575
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re...	OMIM:614473
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Abnormal left ventricu...	ORPHA:75249
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Singleton-Merten Syndrome 2	Arrhythmia, Aortic valve stenosis	OMIM:616298
American Trypanosomiasis	Aganglionic megacolon, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia	ORPHA:3386
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Dk1-Cdg	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy	ORPHA:91131
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Proximal Spinal Muscular Atrophy	Facial diplegia, Bradycardia	ORPHA:70
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Facial palsy, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia	ORPHA:230839
Heart-Hand Syndrome Type 2	Arrhythmia	ORPHA:1350
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit	ORPHA:79126
Porphyria Variegata	Hypertension, Tachycardia, Abnormal autonomic nervous system physiology	ORPHA:79473
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Sepsis In Premature Infants	Tachycardia, Bradycardia, Hypotension	ORPHA:90051
Isolated Succinate-Coq Reductase Deficiency	Abnormal left ventricular function, Noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Ab...	ORPHA:3208
Infantile Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly	OMIM:269920
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc...	OMIM:603903
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction, Brachial ple...	ORPHA:268
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ...	ORPHA:3092
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Central Hypoventilation Syndrome, Congenital, 1	Abnormal autonomic nervous system physiology, Aganglionic megacolon, Decreased heart rate variabi...	OMIM:209880
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure	OMIM:266500
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Caribbean Parkinsonism	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction	ORPHA:97355
Lujo Hemorrhagic Fever	Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension	ORPHA:319213
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope	ORPHA:230
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology	OMIM:618049
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia	ORPHA:3201
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote...	ORPHA:449285
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Glycogen Storage Disease Due To Aldolase A Deficiency	Arrhythmia	ORPHA:57
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Leptospirosis	Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctiv...	ORPHA:509
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly	OMIM:618886
Myotonic Dystrophy 2	Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction	OMIM:602668
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1194
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Arrhythmia, Dilated cardiomyopathy	ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Abnormal autonomic nervous system physiology	ORPHA:83601
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventricular f...	ORPHA:99095
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:231550
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Hemochromatosis, Type 1	Cardiomyopathy, Arrhythmia, Congestive heart failure, Telangiectasia	OMIM:235200
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Partial Atrioventricular Septal Defect	Atrial flutter, Angina pectoris, Transient ischemic attack, Heart murmur, Mitral regurgitation, S...	ORPHA:1330
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi...	ORPHA:99827
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Abnormal autonomic nervous system physiology, Abn...	ORPHA:2131
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Optic atrophy, Cerebral ischemia	ORPHA:60040
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia, Optic atrophy	ORPHA:480864
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Optic atrophy, Arrhythmia	ORPHA:254913
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia	ORPHA:3191
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia	ORPHA:90674
Mucopolysaccharidosis Type 3	Reduced left ventricular ejection fraction, Optic atrophy, Atrioventricular block	ORPHA:581
Hydrops Fetalis	Arrhythmia, Capillary leak	ORPHA:1041
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto...	OMIM:105210
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Arrhythmia, Hypotension	ORPHA:188
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia	ORPHA:90033
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy	OMIM:212140
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Botulism	Arrhythmia	ORPHA:1267
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Meier-Gorlin Syndrome 7	Heart block, Second degree atrioventricular block	OMIM:617063
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology	OMIM:256800
Carnitine Palmitoyltransferase I Deficiency	Arrhythmia	OMIM:255120
Leopard Syndrome 1	Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s...	OMIM:151100
Refsum Disease	Heart block, Cardiomyopathy	ORPHA:773
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Congenital Sialidosis Type 2	Abnormal EKG, Optic atrophy, Telangiectasia	ORPHA:93400
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Foodborne Botulism	Arrhythmia	ORPHA:228371
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Arrhythmia	ORPHA:171876
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis	OMIM:611553
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Dextrocardia	Abnormal EKG, T-wave inversion	ORPHA:1666
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Cardiomyopathy, Arrhythmia	ORPHA:228305
Chromosome 2Q37 Deletion Syndrome	Arrhythmia	OMIM:600430
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology	ORPHA:163921
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Hyperkalemic Periodic Paralysis	Congestive heart failure, Arrhythmia	ORPHA:682
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis	OMIM:617877
Stiff-Person Syndrome	Hypertension, Tachycardia	OMIM:184850
Carnitine-Acylcarnitine Translocase Deficiency	Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension	ORPHA:159
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio...	ORPHA:99829
Alexander Disease	Facial palsy, Sudden cardiac death, Hypertension, Abnormal autonomic nervous system physiology, H...	ORPHA:58
Lambert-Eaton Myasthenic Syndrome	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	ORPHA:43393
Multiple Endocrine Neoplasia, Type Iia	Hypertension, Aganglionic megacolon, Palpitations	OMIM:171400
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Arrhythmia	ORPHA:42
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy	OMIM:609015
Bohring-Opitz Syndrome	Optic atrophy, Bradycardia	ORPHA:97297
Rheumatic Fever	Myocarditis, Pericarditis, Epistaxis, Arrhythmia	ORPHA:3099
Pulmonary Arteriovenous Malformation	Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectasia, Ischem...	ORPHA:2038
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Mercury Poisoning	Hypertension, Tachycardia, Hypotension	ORPHA:330021
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Abnormal autonomic nervous system physiology, Hypotension	ORPHA:93256
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
African Trypanosomiasis	Abnormal EKG, Pericarditis, Papilledema, Myocarditis, Congestive heart failure, Second degree atr...	ORPHA:3385
3-Methylglutaconic Aciduria, Type Viii	Bradycardia	OMIM:617248
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Abnormality of pe...	OMIM:601992
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia	OMIM:614437
Primary Unilateral Adrenal Hyperplasia	Hypertension, Palpitations, Epistaxis	ORPHA:231580
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc...	ORPHA:99826
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr...	ORPHA:358
Inherited Creutzfeldt-Jakob Disease	Vestibular nystagmus, Abnormal autonomic nervous system physiology	ORPHA:282166
Immunodeficiency 87 And Autoimmunity	Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp...	OMIM:619573
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Bradycardia	ORPHA:226307
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Primary Hyperoxaluria	Optic disc pallor, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Cardiomyop...	ORPHA:416
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy...	ORPHA:727
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Arrhythmia	ORPHA:2878
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul...	ORPHA:100078
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o...	ORPHA:93672
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype...	ORPHA:280365
Ogden Syndrome	Cardiogenic shock, Arrhythmia	ORPHA:276432
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Arrhythmia	ORPHA:746
Infantile Neuroaxonal Dystrophy	Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve cond...	ORPHA:35069
Agel Amyloidosis	Cardiomyopathy, Arrhythmia, Facial palsy, Orthostatic hypotension due to autonomic dysfunction	ORPHA:85448
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormal autonomic nervous system p...	ORPHA:99027
Ivic Syndrome	Arrhythmia	ORPHA:2307
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Porphyria, Acute Intermittent	Hypertension, Tachycardia	OMIM:176000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Cardiomyopathy, Arrhythmia	ORPHA:228308
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:616683
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:466934
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Optic atrophy, Cerebral ischemia, Arrh...	ORPHA:397
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology	OMIM:300894
Legionnaires Disease	Myocarditis, Pericarditis, Arrhythmia, Hypotension	ORPHA:549
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Optic atrophy, Abnormal autonomic nervous system phy...	ORPHA:3463
Alexander Disease Type Ii	Abnormal autonomic nervous system physiology	ORPHA:363722
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Optic atrophy, Hypotension	ORPHA:428
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Congestive heart failure, Cardiomyopathy, Arrhythmia, Elevated jugular venou...	ORPHA:465508
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology	OMIM:614575
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Arrhythmia	ORPHA:254346
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,...	OMIM:170390
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:201475
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Autonomic bladder dysfunction	ORPHA:447896
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Palpitations, Arrhythmia	ORPHA:565612
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Arrhythmia	OMIM:171480
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Facial palsy	ORPHA:2483
Genetic Recurrent Myoglobinuria	Arrhythmia	ORPHA:99845
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Arrhythmia	ORPHA:3220
16P11.2P12.2 Microdeletion Syndrome	Arrhythmia, Tricuspid regurgitation	ORPHA:261211
Machado-Joseph Disease	Abnormal autonomic nervous system physiology	OMIM:109150
Congenital Heart Defects, Multiple Types, 9	Pulmonic stenosis, Left axis deviation	OMIM:620294
Acute Transverse Myelitis	Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic nervous system...	ORPHA:139417
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Congestive heart failure, Mitral regur...	ORPHA:363705
Haddad Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:99803
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Lymphedema-Distichiasis Syndrome	Arrhythmia	ORPHA:33001
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyo...	ORPHA:500
Von Hippel-Lindau Disease	Papilledema, Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopat...	ORPHA:892
Hennekam-Beemer Syndrome	Arrhythmia, Optic atrophy, Telangiectasia of the skin, Hypotension	ORPHA:2135
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:26791
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Fatal Familial Insomnia	Abnormal autonomic nervous system physiology	OMIM:600072
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:608013
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia	ORPHA:2874
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Arrhythmia	OMIM:619184
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal autonomic nervous system physiology	ORPHA:300570
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph...	ORPHA:79330
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Abnormal autonomic nervous system physiology	OMIM:617903
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Abnormal autonomic nervous system physiology	OMIM:601559
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:614052
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypertrophic cardiomyopathy, Arrhythmia	OMIM:615471
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu...	ORPHA:466650
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Dilated cardiomyopathy, Facial diplegia, Reduced left ventricu...	ORPHA:254892
Trisomy 20P	Abnormal autonomic nervous system physiology	ORPHA:261318
Localized Scleroderma	Raynaud phenomenon, Arrhythmia, Vasculitis	ORPHA:90289
Nmda Receptor Encephalitis	Abnormal sudomotor regulation, Orthostatic hypotension, Abnormal autonomic nervous system physiol...	ORPHA:217253
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Arrhythmia	ORPHA:157
Combined Oxidative Phosphorylation Defect Type 29	Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Scimitar Syndrome	Heart block, Congestive heart failure, Left-to-right shunt, Pulmonary arterial hypertension	ORPHA:185
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Arrhythmia, Aganglionic megacolon	ORPHA:163746
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Facial palsy, Cardiomyopathy, Reduced left ventricular ejection fraction, Pulmonary arterial hype...	ORPHA:258
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v...	OMIM:602782
Young-Onset Parkinson Disease	Abnormal autonomic nervous system physiology	ORPHA:2828
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology	ORPHA:247234
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage	OMIM:608836
Lymphedema-Distichiasis Syndrome	Arrhythmia	OMIM:153400
Dominant Beta-Thalassemia	High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy	ORPHA:231226
Laubry-Pezzi Syndrome	Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure...	ORPHA:99094
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Parkinson Disease, Late-Onset	Abnormal autonomic nervous system physiology	OMIM:168600
Cartilage-Hair Hypoplasia	Heart block, Cardiomyopathy, Aganglionic megacolon	ORPHA:175
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Pagod Syndrome	Arrhythmia, Optic atrophy, Sudden cardiac death	ORPHA:991
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Rett Syndrome	Abnormal autonomic nervous system physiology	ORPHA:778
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Mgat2-Cdg	Arrhythmia, Reflex asystolic syncope	ORPHA:79329
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Pulmona...	ORPHA:221
Ulnar-Mammary Syndrome	Arrhythmia	ORPHA:3138
Ramos-Arroyo Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:1051
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia	OMIM:309801
Parkinsonian-Pyramidal Syndrome	Abnormal autonomic nervous system physiology	ORPHA:171695
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal autonomic nervous system physiology	ORPHA:453499
Beta-Thalassemia Major	High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy	ORPHA:231214
Kleefstra Syndrome	Arrhythmia	ORPHA:261494
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Normochromic anemia, Reduced hematocrit	ORPHA:91500
Familial Mediterranean Fever	Pericarditis, Vasculitis, Arrhythmia, Myocardial infarction	ORPHA:342
Kawasaki Disease	Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Arrhythmia	ORPHA:2331
Fucosidosis	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly	OMIM:230000
Leprosy	Abnormality of the seventh cranial nerve, Epistaxis, Abnormal autonomic nervous system physiology	ORPHA:548
Tick-Borne Encephalitis	Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervous system physiology, Facial ...	ORPHA:297
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Wiskott-Aldrich Syndrome	Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In...	ORPHA:906
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave	ORPHA:444072
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Anemia	ORPHA:14
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Oculodentodigital Dysplasia	Arrhythmia, Optic atrophy	ORPHA:2710
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Oculodentodigital Dysplasia	Arrhythmia	OMIM:164200
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Amoebiasis Due To Free-Living Amoebae	Arrhythmia, Facial palsy	ORPHA:68
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Sarcoidosis	Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart block, Ventricula...	ORPHA:797
Cockayne Syndrome B	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hyperten...	OMIM:133540
Cockayne Syndrome A	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hyperten...	OMIM:216400
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Mucopolysaccharidosis Type 2	Papilledema, Decreased nerve conduction velocity, Optic atrophy, Cardiomyopathy, Hypertension, Ar...	ORPHA:580
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Optic atrophy, Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia	ORPHA:217085
Choreoacanthocytosis	Dilated cardiomyopathy, Abnormal autonomic nervous system physiology, Decreased amplitude of sens...	ORPHA:2388
Noonan Syndrome	Arrhythmia	ORPHA:648
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Optic atrophy, Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia	ORPHA:217093
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Holoprosencephaly	Arrhythmia, Optic atrophy	ORPHA:2162
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia	OMIM:250220
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal...	ORPHA:51
Glycogen Storage Disease Due To Acid Maltase Deficiency	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:365
Schwartz-Jampel Syndrome	Pulmonary arterial hypertension, Arrhythmia	ORPHA:800
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Thrombocytopenia,...	OMIM:619991
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Specc1L-Related Hypertelorism Syndrome	Arrhythmia	ORPHA:1519
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitatio...	ORPHA:2556
Plague	Hematemesis, Tachycardia, Arrhythmia, Hypotension	ORPHA:707
Costello Syndrome	Hypertrophic cardiomyopathy, Arrhythmia, Vestibular schwannoma, Pulmonic stenosis	OMIM:218040
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Cardiomegaly, Microcytic anemia, Splenomegaly, Thrombocytopenia	OMIM:256040
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Polycythemia, Visceromegal...	ORPHA:116
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal autonomic nervous system physiology	ORPHA:293987
Stüve-Wiedemann Syndrome	Abnormal autonomic nervous system physiology	ORPHA:3206
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot	ORPHA:3472
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Arrhythmia	ORPHA:285
Williams Syndrome	Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:904
Ulnar-Mammary Syndrome	Arrhythmia	OMIM:181450
Stickler Syndrome	Arrhythmia	ORPHA:828
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Simpson-Golabi-Behmel Syndrome, Type 1	Cardiomyopathy, Arrhythmia, Pulmonic stenosis	OMIM:312870
Generalized Arterial Calcification Of Infancy	Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly	ORPHA:51608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Akap10

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Akap10.

No publications found that use IMPC mice or data for Akap10.

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

MGI Allele	Allele Type	Produced
Akap10^{tm48590(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Akap10^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Akap10^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Akap10 MGI:1890218

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

OPT E9.5

Adult LacZ

Embryo LacZ

Human diseases caused by Akap10 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data