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Gene: Akap10 MGI:1890218

Gene Summary

Name:

A kinase (PRKA) 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
increased hematocrit	Akap10^{tm1.1(KOMP)Vlcg}	HET	Early adult	6.93×10^-05
abnormal heart morphology	Akap10^{tm1.1(KOMP)Vlcg}	HET	Early adult	0.00
preweaning lethality, incomplete penetrance	Akap10^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00

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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	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
vascular system	0.0%
white adipose tissue	0.0%

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

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

Anatomy	Background staining in controls(WT)
axial skeleton	1.56% (1 of 64)
brain	1.17% (6 of 511)
central nervous system ganglion	1.37% (1 of 73)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
gut	1.69% (1 of 59)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
nose	1.28% (1 of 78)
oral cavity	0.2% (1 of 506)
placenta	16.67% (7 of 42)
skeleton	1.28% (1 of 78)
skin	0.2% (1 of 511)
spinal cord	1.39% (1 of 72)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)
trachea	1.69% (1 of 59)
urinary system	1.69% (1 of 59)

Associated Images

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

Adult LacZ

LacZ Images Section

28 Images

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Embryo LacZ

LacZ images wholemount

28 Images

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OPT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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 (695 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	Syncope, Arrhythmia	OMIM:115080
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia	OMIM:614896
Long Qt Syndrome 13	Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e...	OMIM:613485
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi...	OMIM:617280
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b...	OMIM:140400
Long Qt Syndrome 10	Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib...	OMIM:611819
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Atrial Standstill 1	Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth...	OMIM:108770
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Arrhythmia	ORPHA:3193
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Arrhythmia	OMIM:212500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst...	OMIM:604772
Brugada Syndrome	Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven...	ORPHA:130
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Cardiomyopathy, Dilated, 1E	Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti...	OMIM:601154
Cardiomyopathy, Dilated, 1G	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre...	OMIM:604145
Progressive Familial Heart Block, Type Ib	Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f...	OMIM:604559
Sick Sinus Syndrome 1	Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin...	OMIM:608567
Sick Sinus Syndrome 4	Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,...	OMIM:619464
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia	OMIM:611938
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval	OMIM:618782
Familial Short Qt Syndrome	Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At...	ORPHA:51083
Long Qt Syndrome 14	T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT...	OMIM:616247
Cardiomyopathy, Dilated, 1U	Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c...	OMIM:613694
Congenital Heart Defects, Multiple Types, 3	Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At...	OMIM:614954
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,...	OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Intellectual Developmental Disorder With Cardiac Arrhythmia	Bradycardia, Sick sinus syndrome, Arrhythmia	OMIM:617173
Erythrocytosis, Familial, 8	Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia	OMIM:222800
Brugada Syndrome 2	Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr...	OMIM:611777
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Dilated, 1V	Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven...	OMIM:613697
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Long Qt Syndrome 9	Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br...	OMIM:611818
Long Qt Syndrome 15	Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib...	OMIM:616249
Cardiomyopathy, Dilated, 1A	Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio...	OMIM:115200
Heart-Hand Syndrome, Slovenian Type	Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod...	ORPHA:168796
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a...	OMIM:113900
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy	OMIM:107970
Attrv30M Amyloidosis	Cardiomyopathy, Abnormal autonomic nervous system physiology, Atrioventricular block, Arrhythmia	ORPHA:85447
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro...	OMIM:601419
Romano-Ward Syndrome	Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Abnormal auton...	ORPHA:101016
Erythrocytosis, Familial, 3	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:609820
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia	ORPHA:871
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Supraventricular tachycardia, Cardiac arrest, Dilated cardiomyopathy, Hypertrophic cardiomyopathy...	OMIM:612158
Atrial Septal Defect 6	Bradycardia, Atrial fibrillation	OMIM:613087
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Sudden cardiac death, Palpitations, Atrioventricular block, Atrial arrhythmia, Absent P wave, Fir...	OMIM:310300
Incessant Infant Ventricular Tachycardia	Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ...	ORPHA:45453
Atrial Fibrillation, Familial, 11	Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Atrial Standstill	Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric...	ORPHA:1344
Short Qt Syndrome 2	Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri...	OMIM:609621
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Long Qt Syndrome 5	Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv...	OMIM:613695
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617980
Left Ventricular Noncompaction 1	Sudden cardiac death, Ventricular arrhythmia, Noncompaction cardiomyopathy, Congestive heart fail...	OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat...	OMIM:610476
Cardiac Arrhythmia, Ankyrin-B-Related	Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia	OMIM:600919
Chronic Atrial And Intestinal Dysrhythmia	Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ...	OMIM:616201
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he...	OMIM:616117
Atrial Fibrillation, Familial, 7	Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval...	OMIM:612240
Erythrocytosis, Familial, 5	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617907
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Atrial Fibrillation, Familial, 9	Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f...	OMIM:613980
Paroxysmal Extreme Pain Disorder	Bradycardia, Tachycardia	OMIM:167400
Long Qt Syndrome 2	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched...	OMIM:613688
Cardiomyopathy, Familial Hypertrophic, 26	Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi...	OMIM:617047
Long Qt Syndrome 8	Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ...	OMIM:618447
Muscular Dystrophy, Becker Type	Cardiomyopathy, Arrhythmia, Abnormal EKG	OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar...	OMIM:610193
Atrial Septal Defect, Sinus Venosus Type	Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl...	ORPHA:99105
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre...	OMIM:604400
Jervell And Lange-Nielsen Syndrome 1	Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval	OMIM:220400
Erythrocytosis, Familial, 4	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:611783
Idiopathic Neonatal Atrial Flutter	Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma...	ORPHA:45452
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu...	OMIM:611705
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy	OMIM:609909
Wolff-Parkinson-White Syndrome	Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul...	OMIM:194200
Brugada Syndrome 9	Presyncope, Palpitations, Prolonged QT interval, ST segment elevation	OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ...	OMIM:611528
Long Qt Syndrome 6	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong...	OMIM:613693
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca...	OMIM:617222
Desminopathy	Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges...	ORPHA:98909
Brugada Syndrome 1	Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc...	OMIM:601144
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Ventricular Tachycardia, Familial	Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy	OMIM:192605
Catecholaminergic Polymorphic Ventricular Tachycardia	Sudden cardiac death, Ventricular tachycardia, Syncope	ORPHA:3286
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,...	OMIM:614021
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia	Bradycardia, Sick sinus syndrome	OMIM:617182
Long Qt Syndrome 1	Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,...	OMIM:192500
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Dilated cardiomyopathy...	OMIM:181350
Atrial Fibrillation, Familial, 10	Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a...	OMIM:614022
Atrial Fibrillation, Familial, 3	Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr...	OMIM:607554
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ...	OMIM:615373
Brugada Syndrome 3	Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr...	OMIM:611875
Sick Sinus Syndrome 2	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f...	OMIM:163800
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia	OMIM:192600
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra...	OMIM:615441
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card...	OMIM:600884
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Bradycardia, Atrial fibrillation	OMIM:614302
Atrial Fibrillation, Familial, 14	Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation	OMIM:615378
Atrial Fibrillation, Familial, 4	Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ...	OMIM:611493
Jervell And Lange-Nielsen Syndrome 2	Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q...	OMIM:612347
Attrv122I Amyloidosis	Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal au...	ORPHA:85451
Cardiomyopathy, Dilated, 1D	Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat...	OMIM:601494
Cardiomyopathy, Dilated, 1Nn	Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc...	OMIM:615916
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac...	OMIM:614916
Wild Type Attr Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Abnormal autonomic nervous sy...	ORPHA:330001
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I...	OMIM:601493
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I...	OMIM:615344
Nemaline Myopathy 11, Autosomal Recessive	Facial palsy, First degree atrioventricular block, Cardiomyopathy	OMIM:617336
Short Qt Syndrome 1	Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at...	OMIM:609620
Brugada Syndrome 7	Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal...	OMIM:613120
Cardiomyopathy, Dilated, 1Bb	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:612877
Atrial Standstill 2	Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca...	OMIM:615745
Muscular Dystrophy, Progressive Pectorodorsal	Arrhythmia	OMIM:310095
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Tachycardia, Ventricular fibrillation	OMIM:603829
Atrial Fibrillation, Familial, 15	Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation	OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 12	Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,...	OMIM:612124
Brugada Syndrome 6	Cardiac arrest, Ventricular fibrillation, ST segment elevation	OMIM:613119
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent...	OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle...	OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 8	Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w...	OMIM:608751
Long Qt Syndrome 12	Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation	OMIM:612955
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia	OMIM:618453
Cardiomyopathy, Dilated, 1Dd	Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca...	OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 16	Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype...	OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,...	OMIM:608758
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A	Hypotension, Abnormal autonomic nervous system physiology	OMIM:156310
Congenital Left Ventricular Aneurysm	Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia	ORPHA:1055
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Kearns-Sayre Syndrome	Third degree atrioventricular block	ORPHA:480
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr...	OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 4	Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran...	OMIM:115197
Leber Hereditary Optic Neuropathy	Arrhythmia, Ventricular preexcitation, Optic atrophy, Retinal telangiectasia	ORPHA:104
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn...	ORPHA:300751
Short Qt Syndrome 7	Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation	OMIM:620231
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven...	OMIM:212138
Danon Disease	Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej...	OMIM:300257
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Glycogen Storage Disease Xv	Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva...	OMIM:613507
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome	ORPHA:542306
Long Qt Syndrome 3	Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ...	OMIM:603830
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car...	OMIM:608569
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy	OMIM:618815
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le...	OMIM:115000
Atrial Septal Defect, Ostium Primum Type	Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so...	ORPHA:99106
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Short Qt Syndrome 3	Shortened QT interval, Palpitations, Tachycardia	OMIM:609622
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Tako-Tsubo Cardiomyopathy	Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven...	ORPHA:66529
Cardiomyopathy, Dilated, 2G	Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti...	OMIM:619897
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy...	OMIM:613673
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Atrioventricular block	OMIM:614407
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 13	Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca...	OMIM:613243
Monosodium Glutamate Sensitivity	Palpitations	OMIM:231630
Cardiomyopathy, Dilated, 1Z	Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy	OMIM:611879
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Bradycardia, Congestive heart failure	OMIM:619048
Dystonia 23	Arrhythmia	OMIM:614860
Cardiomyopathy, Familial Hypertrophic, 11	Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy...	OMIM:612098
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Cardiomyopathy, Dilated, 2F	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:619747
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart...	ORPHA:1329
Combined Oxidative Phosphorylation Deficiency 23	Cardiomyopathy, Congestive heart failure, Arrhythmia	OMIM:616198
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopa...	OMIM:613424
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Abnormal autonomic nervous system physiology, Arrhythmia	ORPHA:168593
Atrial Septal Defect, Ostium Secundum Type	Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i...	ORPHA:99103
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Arrhythmia	ORPHA:99944
Familial Dilated Cardiomyopathy	Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy...	ORPHA:217607
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy	OMIM:604401
Tetanus	Abnormal autonomic nervous system physiology, Hypertension, Autonomic bladder dysfunction, Bradyc...	ORPHA:3299
Myotonic Dystrophy 1	Atrial flutter, Facial diplegia, First degree atrioventricular block, Atrial fibrillation	OMIM:160900
Lyme Disease	Atrioventricular block, Arrhythmia	ORPHA:91546
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy	ORPHA:320360
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon...	ORPHA:398124
Illum Syndrome	Bradycardia	OMIM:208155
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr...	OMIM:607450
Infant Acute Respiratory Distress Syndrome	Hypotension, Cardiac arrest, Bradycardia, Tachycardia	ORPHA:70587
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Familial Idiopathic Dilatation Of The Right Atrium	Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal...	ORPHA:1677
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Atrial fibrillation, Hypertro...	OMIM:613690
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,...	OMIM:615184
Tropical Endomyocardial Fibrosis	Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio...	ORPHA:75565
Cardiomyopathy, Familial Hypertrophic, 2	Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop...	OMIM:115195
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Cardiomyopathy, Abnormal left ventricular function, Heart block	ORPHA:98912
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Symmetrical Thalamic Calcifications	Arrhythmia	ORPHA:1314
Timothy Syndrome	Prolonged QT interval, Bradycardia	OMIM:601005
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia	OMIM:614654
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block	OMIM:609438
Brugada Syndrome 4	Shortened QT interval, Atrial fibrillation, Syncope	OMIM:611876
Heart Block, Congenital	Mitral regurgitation, Atrioventricular block, Absent atrioventricular node, Atrial arrhythmia, Ca...	OMIM:234700
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Abnormal autonomic nervous system physiology, Bradycardia, Optic atrophy	OMIM:614498
Erythermalgia, Primary	Abnormal autonomic nervous system physiology, Palpitations	OMIM:133020
Atrial Tachyarrhythmia With Short Pr Interval	Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a...	OMIM:108950
Ventricular Fibrillation, Paroxysmal Familial, 2	Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation	OMIM:612956
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Erythrocytosis, Familial, 2	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:263400
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Aganglionic megacolon, Prolonged QT interval, Arrhythmia	ORPHA:2151
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Abnormal autonomic nervous system physiology, Aganglionic megacolon, Hypertension	OMIM:613870
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Bradycardia, Optic atrophy	OMIM:614702
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Heart block	ORPHA:1964
Obesity Due To Sim1 Deficiency	Hypotension, Abnormal autonomic nervous system physiology, Postural hypotension with compensatory...	ORPHA:369873
Cln3 Disease	T-wave inversion, Bradycardia, Optic atrophy	ORPHA:228346
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Ventricular escape rhy...	ORPHA:98855
Ebstein Anomaly	Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At...	OMIM:224700
Variegate Porphyria	Tachycardia	OMIM:176200
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Propionic Acidemia	Cardiomyopathy, Arrhythmia	ORPHA:35
Liddle Syndrome	Hypertension, Cerebral ischemia, Arrhythmia	ORPHA:526
Holt-Oram Syndrome	First degree atrioventricular block, Atrioventricular block, Paroxysmal atrial fibrillation	ORPHA:392
Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyo...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyo...	ORPHA:98853
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Syncope, Tachycardia	OMIM:192445
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, A...	ORPHA:26793
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Histiocytoid Cardiomyopathy	Supraventricular tachycardia, Right bundle branch block, Optic atrophy, Wolff-Parkinson-White syn...	ORPHA:137675
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat...	OMIM:620135
Naxos Disease	Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C...	ORPHA:34217
X-Linked Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escap...	ORPHA:98863
Cardiomyopathy, Familial Hypertrophic, 17	Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri...	OMIM:613873
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Cardiomyopathy, Optic atrophy, Abnormal EKG	ORPHA:1177
Atrioventricular septal defect 3	Pulmonary arterial hypertension, Midsystolic murmur, Hypertension, Congestive heart failure, Firs...	OMIM:600309
Multiple System Atrophy	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog...	ORPHA:102
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati...	OMIM:261740
Coronary Arterial Fistula	Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre...	ORPHA:2041
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Bradycardia, Arrhythmia	OMIM:609286
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block	OMIM:613158
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Prolonged PR interval, Atrial fibrillation	OMIM:108900
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Kearns-Sayre Syndrome	Cardiomyopathy, Third degree atrioventricular block, Arrhythmia	OMIM:530000
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Arrhythmia	ORPHA:2928
Aapoaiv Amyloidosis	Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ...	ORPHA:439232
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Right bundle branch block, T-wave inversion, Ventricular tachycardia, Palpitations, Arrhythmia, S...	ORPHA:263297
Glossopharyngeal Neuralgia	Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Syncope, Jaw claudication,...	ORPHA:221098
Pure Autonomic Failure	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Syncope	ORPHA:441
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach...	ORPHA:216694
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Arrhythmia	OMIM:616516
Idiopathic/Heritable Pulmonary Arterial Hypertension	Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita...	ORPHA:422
Cardiogenic Shock	Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C...	ORPHA:97292
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Cardiomyopathy, Arrhythmia	OMIM:612999
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
Multiple System Atrophy, Parkinsonian Type	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog...	ORPHA:98933
Loeffler Endocarditis	Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-...	ORPHA:75566
Myopathy, X-Linked, With Postural Muscle Atrophy	Hypertrophic cardiomyopathy, Arrhythmia	OMIM:300696
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Hypertension, Arrhythmia	ORPHA:3222
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi...	OMIM:618052
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Arrhythmia	OMIM:617021
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Hypertension, Congestive heart failure, Abnormal left ventricular...	OMIM:540000
Mahvash Disease	Palpitations	OMIM:619290
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Bradycardia, Papilledema, Persistent fetal circulation	OMIM:618775
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Riboflavin Transporter Deficiency	Abnormal autonomic nervous system physiology, Hypertension, Abnormal cranial nerve morphology, Op...	ORPHA:97229
Hemochromatosis, Type 2A	Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia	OMIM:602390
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Wild Type Abeta2M Amyloidosis	Decreased amplitude of sensory action potentials, Congestive heart failure, Decreased nerve condu...	ORPHA:85446
Naxos Disease	Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi...	OMIM:601214
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia	ORPHA:157973
Familial Thyroid Dyshormonogenesis	Bradycardia	ORPHA:95716
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:611878
Peripartum Cardiomyopathy	Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea...	ORPHA:563
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block	ORPHA:589821
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Multiple System Atrophy, Cerebellar Type	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog...	ORPHA:227510
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Pulmonary arterial hypertension, Hypertension, Intracranial hemorrhage, Epistaxis, Second degree ...	ORPHA:369929
Atrial Fibrillation, Familial, 1	Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 5	Atrial fibrillation	OMIM:611494
Atrial Fibrillation, Familial, 2	Atrial fibrillation	OMIM:608988
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Arrhythmia	ORPHA:93317
Fabry Disease	Transient ischemic attack, Abnormal autonomic nervous system physiology, Congestive heart failure...	OMIM:301500
Ebstein Malformation Of The Tricuspid Valve	Sudden cardiac death, Right bundle branch block, Cerebral ischemia, Congestive heart failure, Arr...	ORPHA:1880
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press...	OMIM:255160
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Mildly reduced left ventricular ejection fraction, Arrhythmia	OMIM:618098
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ...	ORPHA:439
Hyperoxaluria, Primary, Type I	Optic atrophy, Arterial occlusion, Raynaud phenomenon, Intermittent claudication, Atrioventricula...	OMIM:259900
D-Glyceric Aciduria	Bradycardia, Optic nerve hypoplasia	OMIM:220120
Coproporphyria, Hereditary	Tachycardia, Hypertension	OMIM:121300
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Palpitations, Tachycardia	OMIM:188580
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Papilledema, Atrioventricular block	ORPHA:371428
Al Amyloidosis	Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal autonomic nervous system physi...	ORPHA:85443
Variant Abeta2M Amyloidosis	Abnormal autonomic nervous system physiology, Reduced left ventricular ejection fraction	ORPHA:314652
Necrotizing Enterocolitis	Hypotension, Bradycardia, Shock	ORPHA:391673
Leber Optic Atrophy	Optic neuropathy, Optic atrophy, Arrhythmia	OMIM:535000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Premature ventricular contraction, Shortened PR i...	OMIM:620066
Pseudo-Torch Syndrome 2	Bradycardia, Cerebral hemorrhage	OMIM:617397
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Pulmonary arterial hypertension, Second degree atrioventricular block, Hypertension	OMIM:615474
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Optic atrophy	ORPHA:49827
Acquired Methemoglobinemia	Syncope, Palpitations, Tachycardia, Arrhythmia	ORPHA:464453
Congenital Disorder Of Glycosylation, Type Im	Bradycardia, Dilated cardiomyopathy	OMIM:610768
Persistent Idiopathic Facial Pain	Abnormal autonomic nervous system physiology	ORPHA:398147
Congenital Aortic Valve Stenosis	Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Reduced left ventricular ejection f...	ORPHA:3093
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy	OMIM:310200
Thyrotoxic Periodic Paralysis	Impaired myocardial contractility, Abnormality of peripheral nerve conduction, Shortened PR inter...	ORPHA:79102
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Cardiomyopathy	ORPHA:329336
Spontaneous Periodic Hypothermia	Arrhythmia	ORPHA:29822
Combined Oxidative Phosphorylation Defect Type 39	Decreased nerve conduction velocity, Bradycardia, Optic disc pallor	ORPHA:565624
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia	OMIM:606069
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Arrhythmia, Pulmonic stenosis, Tricuspid regurgitation	ORPHA:228410
Arrhythmogenic right ventricular dysplasia, familial, 2	Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy	OMIM:600996
Fabry Disease	Mucosal telangiectasiae, Optic atrophy, Transient ischemic attack, Bundle branch block, Telangiec...	ORPHA:324
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Syncope, Tachycardia	ORPHA:71273
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Bradycardia, Tachycardia, Atrial fibrillation	OMIM:613327
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Congenital Toxoplasmosis	Cardiomegaly, Thrombocytopenia, Anemia, Hepatomegaly	ORPHA:858
Friedreich Ataxia	Optic atrophy, Abnormal EKG, Decreased amplitude of sensory action potentials, Congestive heart f...	OMIM:229300
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Andersen-Tawil Syndrome	Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,...	ORPHA:37553
Familial Multiple Nevi Flammei	Pulmonary embolism, Intracranial hemorrhage, Abnormal cranial nerve morphology, Arrhythmia	ORPHA:624
Atrial Septal Defect 1	Aortic valve stenosis, Second degree atrioventricular block	OMIM:108800
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Lacunar stroke, Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon	OMIM:611773
Thrombotic Thrombocytopenic Purpura	Myocardial infarction, Arrhythmia	ORPHA:54057
Carnitine Palmitoyl Transferase 1A Deficiency	Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:156
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Heart block, Capillary leak, Arrhythmia,...	ORPHA:542323
Combined Oxidative Phosphorylation Deficiency 33	Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy	OMIM:617713
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ...	ORPHA:99104
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia	ORPHA:276556
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Dilated cardiomyopathy, Arrhythmia	OMIM:615084
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Dilated cardiomyopathy, Pericardi...	ORPHA:732
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Autoimmune Hemolytic Anemia	Congestive heart failure, Arrhythmia	ORPHA:98375
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re...	ORPHA:57777
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations	ORPHA:231625
Amyloidosis, Hereditary, Transthyretin-Related	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog...	OMIM:105210
Mitchell Syndrome	Abnormal autonomic nervous system physiology	OMIM:618960
Pheochromocytoma--Islet Cell Tumor Syndrome	Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten...	OMIM:171420
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Infantile Refsum Disease	Facial palsy, Cardiomyopathy, Optic atrophy, Arrhythmia	ORPHA:772
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Duodenal Neuroendocrine Tumor	Increased hematocrit, Iron deficiency anemia, Pulmonic stenosis, Tricuspid stenosis	ORPHA:100076
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Optic atrophy, Arrhythmia	OMIM:249270
Neuroleptic Malignant Syndrome	Hypotension, Pulmonary embolism, Abnormal autonomic nervous system physiology, Hypertension, Hype...	ORPHA:94093
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er...	OMIM:169500
Gaisböck Syndrome	Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he...	ORPHA:90041
Hec Syndrome	Cardiomyopathy, Arrhythmia	ORPHA:2119
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia	ORPHA:276575
Familial Isolated Hypoparathyroidism	Arrhythmia	ORPHA:2238
Typhoid	Epistaxis, Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia	ORPHA:99745
Cardiac Valvular Dysplasia 2	Systolic heart murmur, Left ventricular diastolic dysfunction, Pulmonary insufficiency, Heart mur...	OMIM:620067
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia	OMIM:614653
Paragangliomas 3	Hypertension associated with pheochromocytoma, Palpitations, Tachycardia	OMIM:605373
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Tachycardia	OMIM:145600
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia	ORPHA:276580
American Trypanosomiasis	Aganglionic megacolon, Congestive heart failure, Arrhythmia, Myocarditis, Cardiomyopathy	ORPHA:3386
Arterial Calcification, Generalized, Of Infancy, 2	Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C...	OMIM:614473
Familial Isolated Restrictive Cardiomyopathy	Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left ventricular func...	ORPHA:75249
Familial Atrial Myxoma	Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma	ORPHA:615
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Singleton-Merten Syndrome 2	Aortic valve stenosis, Arrhythmia	OMIM:616298
Proximal Spinal Muscular Atrophy	Facial diplegia, Bradycardia	ORPHA:70
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Heart-Hand Syndrome Type 2	Arrhythmia	ORPHA:1350
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Facial palsy, Left bundle branch block, Ventricular bigeminy, Arrhythmia	OMIM:610131
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia	ORPHA:230839
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Sepsis In Premature Infants	Hypotension, Bradycardia, Tachycardia	ORPHA:90051
Sickle Cell Disease	Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Leukocytosis, Hepatomegaly, Car...	OMIM:603903
Beta-Propeller Protein-Associated Neurodegeneration	Abnormal autonomic nervous system physiology, Optic atrophy	ORPHA:329284
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
Congenitally Uncorrected Transposition Of The Great Arteries	Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter...	ORPHA:860
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit	ORPHA:79126
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation	OMIM:261990
Infantile Sialic Acid Storage Disease	Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly	OMIM:269920
Dk1-Cdg	Dilated cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:91131
Isolated Succinate-Coq Reductase Deficiency	Hypertrophic cardiomyopathy, Abnormal left ventricular function, Noncompaction cardiomyopathy, Ab...	ORPHA:3208
Fixed Subaortic Stenosis	Systolic heart murmur, Left ventricular outflow tract obstruction, Diastolic heart murmur, Syncop...	ORPHA:3092
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Brachial plexus neuropathy, Reduced left ventricular ejection fraction...	ORPHA:268
Sheehan Syndrome	Orthostatic hypotension, Bradycardia, Palpitations	ORPHA:91355
Porphyria Variegata	Tachycardia, Abnormal autonomic nervous system physiology, Hypertension	ORPHA:79473
Cardiomyopathy, Dilated, 1S	Sudden cardiac death, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction...	OMIM:613426
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Arrhythmia	OMIM:266500
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Idiopathic Pulmonary Arterial Hypertension	Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge...	ORPHA:275766
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Central Hypoventilation Syndrome, Congenital, 1	Abnormal autonomic nervous system physiology, Decreased heart rate variability, Aganglionic megac...	OMIM:209880
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
Lujo Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Shock, Myocarditis, Bradycardia	ORPHA:319213
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy	Heart murmur, Hypertension, Abnormal left ventricular function, Left anterior fascicular block, A...	ORPHA:437572
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho...	ORPHA:555874
Acquired Aneurysmal Subarachnoid Hemorrhage	Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti...	ORPHA:90065
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Syncope, Orthostatic syncope, Abnormal EKG	ORPHA:230
Caribbean Parkinsonism	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction	ORPHA:97355
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia	ORPHA:3201
Neuraminidase Deficiency	Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiom...	OMIM:256550
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology	OMIM:618049
Leptospirosis	Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Papilledema, Pericarditis, Arrhythmia, Sub...	ORPHA:509
Pseudo-Torch Syndrome 3	Anemia, Congenital thrombocytopenia, Cardiomegaly, Leukocytosis	OMIM:618886
Myotonic Dystrophy 2	Premature ventricular contraction, Right bundle branch block, Palpitations, Tachycardia	OMIM:602668
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:1194
Glycogen Storage Disease Due To Aldolase A Deficiency	Arrhythmia	ORPHA:57
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Arrhythmia	ORPHA:352447
Crimean-Congo Hemorrhagic Fever	Hypotension, Pulmonary arterial hypertension, Retinal hemorrhage, Myocarditis, Hemothorax, Hemope...	ORPHA:99827
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Paragangliomas 1	Hypertension associated with pheochromocytoma, Palpitations, Tachycardia	OMIM:168000
Partial Atrioventricular Septal Defect	Heart murmur, Transient ischemic attack, Syncope, Angina pectoris, Mitral regurgitation, Palpitat...	ORPHA:1330
Hemochromatosis, Type 1	Cardiomyopathy, Telangiectasia, Congestive heart failure, Arrhythmia	OMIM:235200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Optic atrophy, Cerebral ischemia, Arrhythmia	ORPHA:60040
Congenital Gerbode Defect	Pulmonary arterial hypertension, Systolic heart murmur, Elevated jugular venous pressure, Left-to...	ORPHA:99095
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Hydroxykynureninuria	Hypotension, Tachycardia	ORPHA:79155
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia	ORPHA:3191
Hydrops Fetalis	Capillary leak, Arrhythmia	ORPHA:1041
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology, Cerebral vasculitis	ORPHA:83601
Mucopolysaccharidosis Type 3	Optic atrophy, Atrioventricular block, Reduced left ventricular ejection fraction	ORPHA:581
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Arrhythmia, Prolonged QT interval, Optic atrophy, Abnormal EKG	ORPHA:480864
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect	OMIM:618652
Gaucher Disease, Type Iiic	Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati...	OMIM:231005
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia	ORPHA:90674
Wolfram Syndrome, Mitochondrial Form	Abnormal autonomic nervous system physiology, Optic atrophy	OMIM:598500
Alternating Hemiplegia Of Childhood	Abnormal T-wave, Abnormal autonomic nervous system physiology, Cardiac conduction abnormality, Ar...	ORPHA:2131
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Optic atrophy	OMIM:231550
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Systemic Capillary Leak Syndrome	Hypotension, Myocarditis, Pericarditis, Arrhythmia	ORPHA:188
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Mulibrey Nanism	Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Heart block	OMIM:617063
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly	OMIM:252920
Insensitivity To Pain, Congenital, With Anhidrosis	Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia	OMIM:256800
Botulism	Arrhythmia	ORPHA:1267
Chromosome 2Q37 Deletion Syndrome	Arrhythmia	OMIM:600430
Refsum Disease	Cardiomyopathy, Heart block	ORPHA:773
Leopard Syndrome 1	Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic stenosis, Bundle branc...	OMIM:151100
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Carnitine Palmitoyltransferase I Deficiency	Arrhythmia	OMIM:255120
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Carnitine Deficiency, Systemic Primary	Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy	OMIM:212140
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:619051
Barth Syndrome	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:302060
Chronic Thromboembolic Pulmonary Hypertension	Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ...	ORPHA:70591
Pheochromocytoma	Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten...	OMIM:171300
Congenital Sialidosis Type 2	Telangiectasia, Optic atrophy, Abnormal EKG	ORPHA:93400
Foodborne Botulism	Arrhythmia	ORPHA:228371
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Arrhythmia	ORPHA:171876
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, Arrhythmia, Pr...	ORPHA:1686
Dextrocardia	T-wave inversion, Abnormal EKG	ORPHA:1666
Idiopathic Pulmonary Hemosiderosis	Iron deficiency anemia, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	ORPHA:99931
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythmia	OMIM:611553
Absence Of The Pulmonary Artery	Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio...	ORPHA:980
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Cardiomyopathy, Arrhythmia	ORPHA:228305
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, P...	OMIM:618278
Yellow Fever	Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Internal hemorrhage, Sho...	ORPHA:99829
Hyperkalemic Periodic Paralysis	Congestive heart failure, Arrhythmia	ORPHA:682
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia	OMIM:617877
Lambert-Eaton Myasthenic Syndrome	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology	ORPHA:43393
Multiple Endocrine Neoplasia, Type Iia	Aganglionic megacolon, Palpitations, Hypertension	OMIM:171400
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiomyopathy, Ventricular tachycardia, Arrhythmia	ORPHA:159
Rheumatic Fever	Pericarditis, Myocarditis, Epistaxis, Arrhythmia	ORPHA:3099
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology	ORPHA:163921
Bohring-Opitz Syndrome	Bradycardia, Optic atrophy	ORPHA:97297
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Congestive heart failure, Arrhythmia	OMIM:609015
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Arrhythmia	ORPHA:42
Aorta Coarctation	Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l...	ORPHA:1457
Alexander Disease	Sudden cardiac death, Hypotension, Abnormal autonomic nervous system physiology, Hypertension, Fa...	ORPHA:58
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Ven...	OMIM:300952
Cantu Syndrome	Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve	OMIM:239850
3-Methylglutaconic Aciduria, Type Viii	Bradycardia	OMIM:617248
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Pulmonary Arteriovenous Malformation	Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Ischemic stroke, Hemothora...	ORPHA:2038
Mercury Poisoning	Hypotension, Tachycardia, Hypertension	ORPHA:330021
Marburg Hemorrhagic Fever	Hypotension, Hypovolemia, Internal hemorrhage, Shock, Pericarditis, Capillary leak, Subconjunctiv...	ORPHA:99826
Cutis Laxa, Autosomal Recessive, Type Ib	Bradycardia, Pulmonary insufficiency	OMIM:614437
Immunodeficiency 87 And Autoimmunity	Pulmonary arterial hypertension, Dilated cardiomyopathy, Third degree atrioventricular block, Hyp...	OMIM:619573
African Trypanosomiasis	Third degree atrioventricular block, Abnormal EKG, Papilledema, Congestive heart failure, Pericar...	ORPHA:3385
Gitelman Syndrome	Abnormal T-wave, Prominent U wave, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST ...	ORPHA:358
Carney Triad	Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia	ORPHA:139411
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Hypertension	ORPHA:231580
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Inherited Creutzfeldt-Jakob Disease	Abnormal autonomic nervous system physiology, Vestibular nystagmus	ORPHA:282166
Ileal Neuroendocrine Tumor	Hypotension, Arterial occlusion, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpit...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Hypotension, Arterial occlusion, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpit...	ORPHA:100077
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Abnormal autonomic nervous system physiology, Hypertension	ORPHA:93256
Glycogen Storage Disease Ii	Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, S...	OMIM:232300
Stiff-Person Syndrome	Tachycardia, Hypertension	OMIM:184850
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Arrhythmia	ORPHA:2878
Microscopic Polyangiitis	Congestive heart failure, Pericarditis, Epistaxis, Gastrointestinal hemorrhage, Arrhythmia, Vascu...	ORPHA:727
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Ventricular arrhythmia, Supraventricular arrhythmia, Congestive heart failure, Hypertrophic cardi...	ORPHA:280365
Juvenile Dermatomyositis	Mucosal telangiectasiae, Bundle branch block, Telangiectasia of the skin, Vasculitis, Angina pect...	ORPHA:93672
Primary Hyperoxaluria	Arterial occlusion, Optic atrophy, Raynaud phenomenon, Intermittent claudication, Heart block, Op...	ORPHA:416
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Right atrial ...	OMIM:306955
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro...	ORPHA:324410
Scorpion Envenomation	T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression...	ORPHA:466677
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Bradycardia, Optic nerve hypoplasia	ORPHA:226307
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Arrhythmia, Cardiomyopathy	ORPHA:746
Infantile Neuroaxonal Dystrophy	Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve conduction, Optic a...	ORPHA:35069
Ogden Syndrome	Cardiogenic shock, Arrhythmia	ORPHA:276432
Mastocytosis	Hypotension, Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia	ORPHA:98292
Paragangliomas 4	Hypertension associated with pheochromocytoma, Palpitations, Tachycardia	OMIM:115310
Agel Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Facial palsy, Arrhythmia	ORPHA:85448
Ivic Syndrome	Arrhythmia	ORPHA:2307
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormality of somatosensory evoked potentials, Abnormal auditory evoked potentials, Abnormal aut...	ORPHA:99027
Colchicine Poisoning	Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis	ORPHA:31824
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity	OMIM:243000
Friedreich Ataxia 2	Abnormality of peripheral nerve conduction, Congestive heart failure, Concentric hypertrophic car...	OMIM:601992
Symptomatic Form Of Hemochromatosis Type 1	Elevated jugular venous pressure, Congestive heart failure, Arrhythmia, Portal hypertension, Card...	ORPHA:465508
Legionnaires Disease	Hypotension, Myocarditis, Pericarditis, Arrhythmia	ORPHA:549
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Arrhythmia, Heart block	ORPHA:228308
Leukodystrophy, Hypomyelinating, 12	Abnormal autonomic nervous system physiology, Optic atrophy	OMIM:616683
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Abnormal autonomic nervous system physiology, Optic atrophy	ORPHA:466934
Congenital Hypothyroidism	Hypotension, Hypertension, Optic atrophy, Arrhythmia	ORPHA:442
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Abnormal autonomic nervous system physiology, Aganglionic megacolon, Absent brainstem auditory re...	OMIM:609136
Cocaine Intoxication	Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent...	ORPHA:90068
Giant Cell Arteritis	Sudden cardiac death, Cerebral ischemia, Optic atrophy, Epistaxis, Pericarditis, Arrhythmia, Vasc...	ORPHA:397
Andersen Cardiodysrhythmic Periodic Paralysis	Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Bidirectional ventricular ectopy,...	OMIM:170390
Wolfram Syndrome	Abnormal autonomic nervous system physiology, Optic atrophy, Gastrointestinal hemorrhage, Cardiom...	ORPHA:3463
Alexander Disease Type Ii	Abnormal autonomic nervous system physiology	ORPHA:363722
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Arrhythmia	ORPHA:254346
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Low-output congestive heart failure, Palpitations, Arrhythmia, Cardiomyopathy	ORPHA:565612
Ethylene Glycol Poisoning	Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Tachycardia, A...	ORPHA:31826
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Abnormal autonomic nervous system physiology, Decreased distal sensory nerve action potential	OMIM:614575
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Arrhythmia	OMIM:171480
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly	OMIM:201475
Tremor-Ataxia-Central Hypomyelination Syndrome	Autonomic bladder dysfunction, Optic atrophy	ORPHA:447896
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology	OMIM:300894
Genetic Recurrent Myoglobinuria	Arrhythmia	ORPHA:99845
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Arrhythmia	ORPHA:3220
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Autosomal Dominant Hypocalcemia	Hypotension, Congestive heart failure, Optic atrophy, Arrhythmia	ORPHA:428
Acute Transverse Myelitis	Abnormal autonomic nervous system physiology, Hypertension, Autonomic bladder dysfunction, Orthos...	ORPHA:139417
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect	OMIM:616897
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Severe Generalized Junctional Epidermolysis Bullosa	Bradycardia, Dilated cardiomyopathy	ORPHA:79404
Craniofaciofrontodigital Syndrome	Pulmonary arterial hypertension, Persistent fetal circulation, Congestive heart failure, Mitral r...	ORPHA:363705
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Machado-Joseph Disease	Abnormal autonomic nervous system physiology	OMIM:109150
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Facial palsy	ORPHA:2483
Haddad Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:99803
Lymphedema-Distichiasis Syndrome	Arrhythmia	ORPHA:33001
16P11.2P12.2 Microdeletion Syndrome	Arrhythmia, Tricuspid regurgitation	ORPHA:261211
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Hypertrophic cardiomyopathy, Myocardial infarction, Arrhythmia, Pulmonic ste...	ORPHA:500
Gaucher Disease, Perinatal Lethal	Anemia, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly	OMIM:608013
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Mogs-Cdg	Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegal...	ORPHA:79330
Hennekam-Beemer Syndrome	Hypotension, Telangiectasia of the skin, Optic atrophy, Arrhythmia	ORPHA:2135
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:26791
Fatal Familial Insomnia	Abnormal autonomic nervous system physiology	OMIM:600072
Von Hippel-Lindau Disease	Papilledema, Hypertension, Myocardial infarction, Abnormal left ventricular function, Palpitation...	ORPHA:892
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Arrhythmia	OMIM:619184
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia	ORPHA:2874
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal autonomic nervous system physiology, Optic nerve hypoplasia	ORPHA:300570
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Hypertension, Arrhythmia	OMIM:614052
Steinert Myotonic Dystrophy	Supraventricular tachycardia, Dilated cardiomyopathy, Facial diplegia, Cardiac conduction abnorma...	ORPHA:273
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypertrophic cardiomyopathy, Arrhythmia	OMIM:615471
Aortic Arch Interruption	Systolic heart murmur, Left ventricular outflow tract obstruction, Right bundle branch block, Blo...	ORPHA:2299
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Abnormal autonomic nervous system physiology	OMIM:601559
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect	OMIM:617022
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Abnormal autonomic nervous system physiology	OMIM:617903
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, ST segment depression, ...	ORPHA:466650
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
Leigh Syndrome With Nephrotic Syndrome	Cardiomegaly	ORPHA:255249
Trisomy 20P	Abnormal autonomic nervous system physiology	ORPHA:261318
Autosomal Dominant Progressive External Ophthalmoplegia	Reduced left ventricular ejection fraction, Ventricular arrhythmia, Dilated cardiomyopathy, Facia...	ORPHA:254892
Localized Scleroderma	Vasculitis, Raynaud phenomenon, Arrhythmia	ORPHA:90289
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Arrhythmia	ORPHA:157
Fucosidosis	Cardiomegaly, Hepatomegaly	ORPHA:349
Combined Oxidative Phosphorylation Defect Type 29	Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Nmda Receptor Encephalitis	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Abnormal sudomotor regulat...	ORPHA:217253
Scimitar Syndrome	Pulmonary arterial hypertension, Congestive heart failure, Left-to-right shunt, Heart block	ORPHA:185
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Arrhythmia	ORPHA:163746
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Fucosidosis	Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly	OMIM:230000
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato...	OMIM:602782
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pulmonary arterial hypertension, Reduced left ventricular ejection fraction, Facial palsy, Arrhyt...	ORPHA:258
Young-Onset Parkinson Disease	Abnormal autonomic nervous system physiology	ORPHA:2828
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy	OMIM:619259
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology	ORPHA:247234
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Arrhythmia	OMIM:608836
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Right ventricular outlet tract obstruction, Diastolic heart m...	ORPHA:99094
Dominant Beta-Thalassemia	Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure	ORPHA:231226
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly	ORPHA:308552
Lymphedema-Distichiasis Syndrome	Arrhythmia	OMIM:153400
Cartilage-Hair Hypoplasia	Cardiomyopathy, Aganglionic megacolon, Heart block	ORPHA:175
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Parkinson Disease, Late-Onset	Abnormal autonomic nervous system physiology	OMIM:168600
Pagod Syndrome	Sudden cardiac death, Optic atrophy, Arrhythmia	ORPHA:991
Truncus Arteriosus	Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre...	ORPHA:3384
Mgat2-Cdg	Reflex asystolic syncope, Arrhythmia	ORPHA:79329
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Rett Syndrome	Abnormal autonomic nervous system physiology	ORPHA:778
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy	OMIM:614921
Dermatomyositis	Pulmonary arterial hypertension, Sinus tachycardia, Telangiectasia of the skin, Pericarditis, Myo...	ORPHA:221
Ulnar-Mammary Syndrome	Arrhythmia	ORPHA:3138
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	OMIM:309801
Ramos-Arroyo Syndrome	Abnormal autonomic nervous system physiology, Aganglionic megacolon	ORPHA:1051
Parkinsonian-Pyramidal Syndrome	Abnormal autonomic nervous system physiology	ORPHA:171695
Beta-Thalassemia Major	Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure	ORPHA:231214
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal autonomic nervous system physiology	ORPHA:453499
Familial Mediterranean Fever	Pericarditis, Myocardial infarction, Vasculitis, Arrhythmia	ORPHA:342
Wiskott-Aldrich Syndrome	Sudden cardiac death, Intracranial hemorrhage, Internal hemorrhage, Epistaxis, Arrhythmia, Hemate...	ORPHA:906
Kleefstra Syndrome	Arrhythmia	ORPHA:261494
Tick-Borne Encephalitis	Abnormal autonomic nervous system physiology, Abnormal glossopharyngeal nerve morphology, Abnorma...	ORPHA:297
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave	ORPHA:444072
Leprosy	Epistaxis, Abnormal autonomic nervous system physiology, Abnormality of the seventh cranial nerve	ORPHA:548
Congenital Tracheomalacia	Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par...	ORPHA:95430
Abetalipoproteinemia	Anemia, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis	ORPHA:14
Kawasaki Disease	Congestive heart failure, Pericarditis, Arrhythmia, Myocarditis, Vasculitis	ORPHA:2331
Granulomatosis With Polyangiitis	Cerebral ischemia, Angina pectoris, Hypertension, Pericarditis, Epistaxis, Gastrointestinal hemor...	ORPHA:900
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Normochromic anemia	ORPHA:91500
Oculodentodigital Dysplasia	Optic atrophy, Arrhythmia	ORPHA:2710
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Ogden Syndrome	Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp...	OMIM:300855
Oculodentodigital Dysplasia	Arrhythmia	OMIM:164200
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:252500
Congenital Total Pulmonary Venous Return Anomaly	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous...	ORPHA:99125
Amoebiasis Due To Free-Living Amoebae	Facial palsy, Arrhythmia	ORPHA:68
Sarcoidosis	Abnormal cardiac ventricular function, Heart block, Ventricular tachycardia, Arrhythmia, Portal h...	ORPHA:797
Cockayne Syndrome B	Optic atrophy, Abnormal auditory evoked potentials, Hypertension, Decreased nerve conduction velo...	OMIM:133540
Mucopolysaccharidosis Type 2	Optic atrophy, Hypertension, Decreased nerve conduction velocity, Arrhythmia, Papilledema, Cardio...	ORPHA:580
Cockayne Syndrome A	Optic atrophy, Abnormal auditory evoked potentials, Hypertension, Decreased nerve conduction velo...	OMIM:216400
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac...	OMIM:300967
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Heart murmur, Hypertension, Arrhythmia, Papilledema, Cardiomyopathy	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Heart murmur, Hypertension, Arrhythmia, Papilledema, Cardiomyopathy	ORPHA:217093
Noonan Syndrome	Arrhythmia	ORPHA:648
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Holoprosencephaly	Optic atrophy, Arrhythmia	ORPHA:2162
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Ventricular septal defect, Hepatomegaly	ORPHA:96191
Choreoacanthocytosis	Abnormal autonomic nervous system physiology, Decreased amplitude of sensory action potentials, D...	ORPHA:2388
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neonatal alloimmune ...	ORPHA:51
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia	OMIM:250220
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly	ORPHA:365
Schwartz-Jampel Syndrome	Pulmonary arterial hypertension, Arrhythmia	ORPHA:800
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy	OMIM:130650
Specc1L-Related Hypertelorism Syndrome	Arrhythmia	ORPHA:1519
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Leukopenia, Anemia, Patent foramen ovale, Dilatation of the ventricu...	OMIM:619991
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Arrhythmia, Tricuspid ...	ORPHA:2556
Plague	Hypotension, Tachycardia, Hematemesis, Arrhythmia	ORPHA:707
Costello Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis, Vestibular schwannoma, Arrhythmia	OMIM:218040
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Microcytic anemia	OMIM:256040
Beckwith-Wiedemann Syndrome	Enlarged kidney, Polycythemia, Hypertrophic cardiomyopathy, Hepatomegaly, Visceromegaly, Cardiome...	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, Atrial septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy	ORPHA:3472
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Arrhythmia	ORPHA:285
Williams Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Mitral valv...	ORPHA:904
Ulnar-Mammary Syndrome	Arrhythmia	OMIM:181450
Stickler Syndrome	Arrhythmia	ORPHA:828
Singleton-Merten Syndrome 1	Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit...	OMIM:182250
Simpson-Golabi-Behmel Syndrome, Type 1	Arrhythmia, Pulmonic stenosis, Cardiomyopathy	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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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

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Gene: Akap10 MGI:1890218

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

Embryo LacZ

OPT E9.5

X-ray

X-ray

Human diseases caused by Akap10 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data