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Gene: Casq2 MGI:1309469

Gene Summary

Name:

calsequestrin 2

Synonyms:

ESTM52, cCSQ, Csq2, cardiac calsequestrin

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
preweaning lethality, complete penetrance	Casq2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
edema	Casq2^{tm1b(KOMP)Wtsi}	HOM	E15.5	0.00
abnormal sinus arrhythmia	Casq2^{tm1b(KOMP)Wtsi}	HET	Early adult	6.01×10^-07
cardiovascular system phenotype	Casq2^{tm1b(KOMP)Wtsi}	HET	Early adult	4.32×10^-10
decreased heart rate variability	Casq2^{tm1b(KOMP)Wtsi}	HET	Early adult	8.44×10^-10

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Cerebellum	Section images	heterozygote	100% (2 of 2)
Heart	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	0.0% (0 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Vascular system	Section images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	100% (1 of 1)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	50% (1 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	0.0% (0 of 2)
	N/A		Ambiguous
Brain	N/A	heterozygote	0.0% (0 of 5)
Brain	N/A	homozygote	Ambiguous
Central nervous system ganglion	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Ear	N/A	heterozygote	0.0% (0 of 5)
Ear	N/A	homozygote	Ambiguous
Embryo	N/A	heterozygote	40% (2 of 5)
Embryo	N/A	homozygote	Ambiguous
Eye	N/A	heterozygote	0.0% (0 of 5)
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	0.0% (0 of 5)
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	0.0% (0 of 5)
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	40% (2 of 5)
Forelimb	N/A	homozygote	Ambiguous
Gut	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Handplate	N/A	heterozygote	0.0% (0 of 5)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	0.0% (0 of 5)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	40% (2 of 5)
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	0.0% (0 of 5)
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	40% (2 of 5)
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	0.0% (0 of 5)
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	0.0% (0 of 5)
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	0.0% (0 of 5)
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	0.0% (0 of 5)
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	0.0% (0 of 5)
Midbrain	N/A	homozygote	Ambiguous
Nose	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Oral cavity	N/A	heterozygote	0.0% (0 of 5)
Oral cavity	N/A	homozygote	Ambiguous
Skeleton	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Skin	N/A	heterozygote	0.0% (0 of 5)
Skin	N/A	homozygote	Ambiguous
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Tail somite	N/A	heterozygote	0.0% (0 of 5)
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	0.0% (0 of 5)
Tail	N/A	homozygote	Ambiguous
Trachea	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Urinary system	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

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

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

Anatomy	Background staining in controls(WT)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Embryo LacZ

LacZ images wholemount

32 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

Gross Pathology and Tissue Collection

Images

8 Images

View images

Adult LacZ

LacZ Images Section

20 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Eye Morphology

Images Slit Lamp

1 Images

View images

Eye Morphology

Images Ophthalmoscopy

19 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Gross Morphology Embryo E14.5-E15.5

Images

2 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Human diseases caused by Casq2 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 Casq2 (2 diseases)
Human diseases predicted to be associated with Casq2 (570 diseases)

The table below shows human diseases associated to Casq2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2		Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Catecholaminergic Polymorphic Ventricular Tachycardia		Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286

The table below shows human diseases predicted to be associated to Casq2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto...	OMIM:612124
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper...	OMIM:613424
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Atrial Fibrillation, Familial, 6	Left atrial enlargement, Reduced left ventricular ejection fraction, Atrial fibrillation, Elevate...	OMIM:612201
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Lipedema	Edema	OMIM:614103
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper...	OMIM:115210
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Cardiac Conduction Defect	Syncope, Arrhythmia	OMIM:115080
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef...	OMIM:619747
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 20	Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613876
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio...	OMIM:619897
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at...	OMIM:613694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri...	OMIM:604169
Atrial Standstill	Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu...	ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 18	Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial...	OMIM:613874
Cardiomyopathy, Dilated, 1Kk	Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi...	OMIM:615248
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win...	OMIM:613507
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol...	OMIM:614676
Atrial Fibrillation, Familial, 15	Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde...	OMIM:615770
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype...	OMIM:611556
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca...	ORPHA:263297
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Angioedema, Hereditary, 6	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619363
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Arrhythmia	OMIM:212500
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P...	OMIM:616201
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Muscular dystrophy, Ankle flexion contracture, Premature ventricular contraction, Increased varia...	OMIM:617072
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr...	OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio...	OMIM:613690
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Loeffler Endocarditis	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa...	ORPHA:75566
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Bacterial endocarditis, Heart block, Premature ventricular contraction	ORPHA:1964
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ...	ORPHA:171445
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Lower limb amyotrophy, At...	OMIM:300257
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic...	OMIM:601419
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Kaposi Sarcoma, Susceptibility To	Edema	OMIM:148000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ...	ORPHA:206546
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Hypotension, ...	OMIM:212138
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Trimethylaminuria	Tachycardia, Hypertension, Splenomegaly	OMIM:602079
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur...	ORPHA:563
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia	ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,...	OMIM:540000
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert...	OMIM:601005
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic steno...	OMIM:108900
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Left ventricular hy...	OMIM:619048
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Muscular Dystrophy, Congenital, Lmna-Related	Proximal upper limb amyotrophy, Muscular dystrophy, Paroxysmal atrial fibrillation, Upper limb mu...	OMIM:613205
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame...	OMIM:614302
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular...	ORPHA:3092
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Left Ventricular Noncompaction 10	Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en...	OMIM:615396
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Angioedema, Hereditary, 5	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619361
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve...	ORPHA:1686
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left...	OMIM:620236
Myofibrillar Myopathy 10	Ankle flexion contracture, Knee flexion contracture, Prolonged QTc interval, Elbow flexion contra...	OMIM:619040
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Cardiomyopathy, Dilated, 1Dd	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death, Left ventricular systolic...	OMIM:613172
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Muscular dystrophy, Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, S...	ORPHA:300751
Coronary Arterial Fistula	Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,...	ORPHA:2041
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl...	ORPHA:57777
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Aortic valve c...	ORPHA:3093
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Supraventricular tachycardia, Cardiomyopathy, Myopathy	OMIM:255100
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial ...	OMIM:620265
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia	OMIM:614654
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Limb muscle weak...	ORPHA:90064
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Severely reduced left ventricular ejection fraction, Calf muscle hypert...	OMIM:611705
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ...	OMIM:613642
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr...	ORPHA:542306
Malignant Hyperthermia Of Anesthesia	Acute rhabdomyolysis, Abnormality of masseter muscle, Cardiomyocyte mitochondrial proliferation, ...	ORPHA:423
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618815
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, Absent P wa...	OMIM:615745
Muscular Dystrophy, Becker Type	Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG	OMIM:300376
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul...	OMIM:224700
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Myotonic Dystrophy 2	Right bundle branch block, Premature ventricular contraction, Sternocleidomastoid amyotrophy, Gen...	OMIM:602668
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ...	OMIM:620066
Leber Hereditary Optic Neuropathy	Ventricular preexcitation, Retinal telangiectasia, Myopathy, Arrhythmia	ORPHA:104
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu...	OMIM:620519
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr...	OMIM:611493
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618235
Variegate Porphyria	Tachycardia	OMIM:176200
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg...	ORPHA:860
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle...	ORPHA:86812
Coproporphyria, Hereditary	Tachycardia, Hypertension, Splenomegaly, Hepatomegaly	OMIM:121300
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Hepatomegaly, Prolonged QT interval, Patent foramen ovale, Ventricular fibr...	ORPHA:26793
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Wolff-Parkinson-White syndrome, Severely reduced left ventricular eject...	ORPHA:444013
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Hypertension, Premature ventricular contraction, Biventricular hypertrophy, Hy...	OMIM:620504
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi...	OMIM:181350
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph...	OMIM:115197
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa...	OMIM:600334
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Edema, Familial Idiopathic, Prepubertal	Edema	OMIM:129840
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W...	OMIM:619566
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia	ORPHA:85447
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Ventricular tachycardia, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure	OMIM:605676
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardiomegaly, Hepatomeg...	ORPHA:137675
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib...	OMIM:607554
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop...	ORPHA:330001
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Jervell And Lange-Nielsen Syndrome	Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes	ORPHA:90647
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D...	OMIM:300952
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Cardiomyopathy, Hypotension, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia	ORPHA:159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Left ventricular systolic dysfunction, Skeletal muscle hypertrophy, Facial pa...	OMIM:613156
Congenital Fibrinogen Deficiency	Tachycardia, Right ventricular hypertrophy, Internal hemorrhage, Left ventricular hypertrophy	ORPHA:335
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Flexion contracture, Tachycardia, Atrial septal defect, Ventricular septal defect, ...	OMIM:613870
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Flexion contracture, Left ventricular hypertrophy	OMIM:616733
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Myopathy, Bradycardia, ST segment elevation, Cardiomyo...	OMIM:261740
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Achilles ten...	OMIM:615418
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Knee flexion contracture, Noncompaction cardiomyopathy, Dis...	ORPHA:3208
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen...	OMIM:616812
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology...	OMIM:618654
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Cardiomyopathy, Scapular winging, Increased variability in muscle fiber diame...	OMIM:612999
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy, Left ventricular hypertrophy	OMIM:102200
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations	ORPHA:276556
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten...	OMIM:614473
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:618228
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab...	ORPHA:1055
Macular Dystrophy, Dominant Cystoid	Edema, Cystoid macular edema	OMIM:153880
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Hy...	OMIM:300280
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Splenomegaly	ORPHA:90037
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Glycogen Storage Disease Iv	Bradycardia, Cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Skeletal muscle atrophy, Fl...	OMIM:232500
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Rhabdomyolysis	OMIM:188580
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventri...	OMIM:616878
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ...	OMIM:609286
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations	ORPHA:276575
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa...	ORPHA:1345
Familial Isolated Dilated Cardiomyopathy	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	ORPHA:154
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Myopathy	OMIM:617713
Idiopathic Congenital Hypothyroidism	Macroglossia, Bradycardia	ORPHA:95717
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi...	ORPHA:90065
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations	ORPHA:276580
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano...	ORPHA:99094
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio...	OMIM:619167
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect	OMIM:126320
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Tangier Disease	Hepatomegaly, Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Myo...	OMIM:205400
Lymphatic Malformation 8	Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis	OMIM:618773
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr...	ORPHA:251274
Fabry Disease	Congestive heart failure, Ventricular septal hypertrophy, Angina pectoris, Hypertension, Transien...	OMIM:301500
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy...	OMIM:614096
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Hypertension, Aortopulmonary window, Abnor...	ORPHA:2299
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L...	OMIM:615474
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Lymphatic Malformation 3	Lymphedema	OMIM:613480
Eisenmenger Syndrome	Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef...	ORPHA:97214
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertrophy, Atrial septal defec...	OMIM:615355
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Wolff-Parkinson-White syndrome, Hepatomegaly, Hypertrophic cardiomyopat...	OMIM:618234
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal defect, Ve...	ORPHA:49827
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Scorpion Envenomation	Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont...	ORPHA:466677
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Hypotension	OMIM:145600
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive...	ORPHA:308552
Propionic Acidemia	Hepatomegaly, Cardiomyopathy, Arrhythmia	ORPHA:35
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
White Sponge Nevus 2	Edema	OMIM:615785
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Joint contracture of the 5th finger, Bradycardia	OMIM:614407
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Acquired Methemoglobinemia	Syncope, Palpitations, Arrhythmia, Tachycardia	ORPHA:464453
Hyperinsulinism Due To Hnf1A Deficiency	Syncope, Palpitations, Hepatomegaly, Tachycardia	ORPHA:324575
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Hypertrophic ...	ORPHA:368
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon...	ORPHA:422
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra...	ORPHA:1677
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Left ventricular hypertrophy, ...	ORPHA:746
Familial Atrial Myxoma	Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon...	ORPHA:615
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia	ORPHA:40366
Pulmonary Hypertension, Primary, 5	Angina pectoris, Pulmonary arterial hypertension, Right ventricular failure, Right ventricular hy...	OMIM:265400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Ven...	OMIM:618775
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran...	ORPHA:1880
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171420
Snakebite Envenomation	Hypotension, Cerebral ischemia, Muscle fiber necrosis, Rhabdomyolysis, Cardiogenic shock, Epistax...	ORPHA:449285
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Limb hypertonia, Bradycardia	OMIM:614498
Pseudo-Torch Syndrome 2	Hepatomegaly, Secundum atrial septal defect, Cerebral hemorrhage, Bradycardia	OMIM:617397
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618378
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio...	OMIM:620135
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Glutamine Deficiency, Congenital	Flexion contracture, Camptodactyly, Bradycardia	OMIM:610015
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure, Splenomegaly	ORPHA:90033
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Scapular winging, Syncope, Palpi...	OMIM:170390
Paget Disease Of Bone 6	Left ventricular hypertrophy	OMIM:616833
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Absence Of The Pulmonary Artery	Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Cardiomegaly, Reduce...	ORPHA:980
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Congenital Gerbode Defect	Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf...	ORPHA:99095
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C...	ORPHA:75565
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,...	OMIM:300855
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98855
Gitelman Syndrome	Prolonged QT interval, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Palpitations	OMIM:263800
Lipodystrophy, Congenital Generalized, Type 4	Muscular dystrophy, Hepatomegaly, Prolonged QT interval, Bradycardia, Atrial fibrillation, Skelet...	OMIM:613327
Lymphatic Malformation 9	Predominantly lower limb lymphedema	OMIM:619319
Proximal Spinal Muscular Atrophy	Distal lower limb muscle weakness, Weakness of facial musculature, Bradycardia, Facial diplegia, ...	ORPHA:70
Stiff-Person Syndrome	Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Hypertension, Axial muscle stif...	OMIM:184850
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Cardiac-Valvular Ehlers-Danlos Syndrome	Pulmonary insufficiency, Aortic regurgitation, Abnormal heart valve morphology, Tendon thickening...	ORPHA:230851
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Mitochondrial Complex I Deficiency, Nuclear Type 37	Skeletal muscle atrophy, Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Abnormal heart morphology	ORPHA:79264
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Refsum Disease, Classic	Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly	OMIM:266500
Idiopathic Pulmonary Arterial Hypertension	Elevated pulmonary artery pressure, Congestive heart failure, Pulmonary arterial hypertension, Tr...	ORPHA:275766
Double Outlet Right Ventricle	Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Heart murmur, Tachycardia, Ventricula...	ORPHA:3426
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Macroglossia, Bradycardia	ORPHA:226313
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:618321
Pituitary Gigantism	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:99725
Autosomal Recessive Centronuclear Myopathy	Abnormal heart valve morphology, Facial diplegia, Scapular winging, Facial palsy, Generalized amy...	ORPHA:169186
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Lower limb muscle weakness	OMIM:619737
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Congenital Myopathy 22A, Classic	Bradycardia, Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contractures, ...	OMIM:620351
Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98853
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Atrial flutter, Abnormal tricuspid valve morphology, Angina pectoris, Bact...	ORPHA:1330
Lymphedema And Cerebral Arteriovenous Anomaly	Lymphedema	OMIM:152900
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Hepatomegaly	OMIM:229700
Familial Thyroid Dyshormonogenesis	Macroglossia, Bradycardia	ORPHA:95716
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Atrial fibrillation, Supraventricular arrhythmia, Tricuspi...	ORPHA:75249
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgitation, Left ventricular hypert...	OMIM:619698
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Necrotizing Enterocolitis	Shock, Abnormal heart morphology, Hypotension, Bradycardia	ORPHA:391673
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Cardiomyopathy, Arrhythmia	ORPHA:3222
Apparent Mineralocorticoid Excess	Hypertension, Left ventricular hypertrophy	ORPHA:320
16P12.1P12.3 Triplication Syndrome	Tachycardia, Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology	ORPHA:485405
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98863
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r...	ORPHA:324410
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Marshall-Smith Syndrome	Hypertension, Premature ventricular contraction, Dysplastic aortic valve, Pulmonary arterial hype...	OMIM:602535
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Tachycardia, Ventricular sept...	OMIM:614653
20P12.3 Microdeletion Syndrome	Atrial septal defect, Wolff-Parkinson-White syndrome	ORPHA:261295
Hereditary Coproporphyria	Tachycardia, Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs	ORPHA:79273
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Autosomal Dominant Progressive External Ophthalmoplegia	Hypomimic face, Reduced left ventricular ejection fraction, Atrial fibrillation, Ragged-red muscl...	ORPHA:254892
Hemochromatosis, Type 1	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Cardiomegaly, T...	OMIM:235200
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Tricuspid regurgitation, Dysplastic ...	OMIM:620067
Fabry Disease	Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Angi...	ORPHA:324
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Cardiomegaly, Pulmonary arterial hypertension, Rhabdomyolysis, Tachycardia, Aborted...	OMIM:614921
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Congestive heart failure, Left ventricular hypertrophy	OMIM:619355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Muscular dystrophy, Left ventricular hypertrophy	OMIM:613153
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Atrial septal defect, Left-to-right shunt, Left ventricular hypertrophy	OMIM:620510
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at...	ORPHA:1457
Car T Cell Therapy-Associated Cytokine Release Syndrome	Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,...	ORPHA:542323
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Calf muscle ...	ORPHA:268
Infantile Sialic Acid Storage Disease	Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly	OMIM:269920
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral stenosis, Mitral valve prolapse, Left vent...	OMIM:616564
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Tricus...	OMIM:619705
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171300
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Ventricular se...	OMIM:618652
Mucolipidosis Type Ii	Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic regurgitation, Knee flexion con...	ORPHA:576
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Increased blood pressure, Hypertension, Portal hypertension, Pericarditis, Pericard...	OMIM:619487
X-Linked Intellectual Disability, Hedera Type	Hypomimic face, Left ventricular hypertrophy	ORPHA:93952
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Reduced muscle carnitine level, Cardiomyopathy, Hypertrop...	OMIM:212140
Mercury Poisoning	Tachycardia, Hypertension, Hypotension	ORPHA:330021
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Combined Oxidative Phosphorylation Defect Type 39	Congenital foot contractures, Limb hypertonia, Bradycardia	ORPHA:565624
Tularemia	Tachycardia	ORPHA:3392
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial...	OMIM:619051
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti...	OMIM:620609
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension	OMIM:619064
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Distal arthrogryposis, Arrhythmia, Cardiomegaly, Myopathy	ORPHA:42
Sepsis In Premature Infants	Hepatomegaly, Bradycardia, Hypotension, Splenomegaly, Tachycardia	ORPHA:90051
Encephalitis Lethargica	Upper limb muscle weakness, Bradycardia	ORPHA:83600
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left...	OMIM:618619
D-Glyceric Aciduria	Bradycardia	OMIM:220120
Glycogen Storage Disease Due To Acid Maltase Deficiency	Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, Left ventricular...	ORPHA:365
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Corneal Dystrophy, Fuchs Endothelial, 2	Edema	OMIM:610158
Aortic Aneurysm, Familial Thoracic 10	Bicuspid aortic valve, Mitral regurgitation, Left ventricular hypertrophy	OMIM:617168
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Exercise-i...	OMIM:201475
Hypothyroidism Due To Tsh Receptor Mutations	Macroglossia, Bradycardia	ORPHA:90673
Glycogen Storage Disease Ii	Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis devia...	OMIM:232300
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly	OMIM:253250
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Hepatomegaly	ORPHA:263455
Truncus Arteriosus	Transposition of the great arteries, Aortic regurgitation, Cardiomegaly, Abnormal heart valve mor...	ORPHA:3384
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Small thenar eminence, Pulmonic stenosis, Mitral valve pr...	OMIM:142900
Marfan Syndrome	Congestive heart failure, Tricuspid valve prolapse, Aortic regurgitation, Mitral valve calcificat...	ORPHA:558
Yellow Nail Syndrome	Lymphedema, Predominantly lower limb lymphedema	OMIM:153300
Carney Triad	Gastrointestinal hemorrhage, Leiomyosarcoma, Hypertension, Arrhythmia, Tachycardia	ORPHA:139411
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Hypertension, Pulmonary arterial hypertension, Right ventricular ...	OMIM:178600
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Partial anomalous pulmonary venous ...	OMIM:618280
Serotonin Syndrome	Tachycardia, Rhabdomyolysis, Hypertension, Hypotension	ORPHA:43116
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hepatomegaly, Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia	OMIM:277400
Combined Oxidative Phosphorylation Deficiency 39	Congenital contracture, Joint contracture, Sinus bradycardia, Flexion contracture, Arthrogryposis...	OMIM:618397
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	OMIM:255120
Lujo Hemorrhagic Fever	Myocarditis, Bradycardia, Hypotension, Subconjunctival hemorrhage, Shock	ORPHA:319213
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,...	OMIM:617877
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci...	OMIM:265300
Neuroleptic Malignant Syndrome	Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Rhabdomyolysis, Arrhythmia, Tachycar...	ORPHA:94093
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Left bundle branch block, Facial palsy, Limb muscle weakness, Arrhythmia	OMIM:610131
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Enlarged kidney, Patent foramen ovale, Tricuspid regurgitation, Pulmona...	ORPHA:505248
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonic stenosis, Small thenar eminence, Camptodactyly, Left ventricular hypertrophy	OMIM:619148
Familial Aortic Dissection	Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation	ORPHA:229
Neuraminidase Deficiency	Hepatomegaly, Cardiomyopathy, Splenomegaly, Skeletal muscle atrophy, Cardiomegaly	OMIM:256550
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Diffuse alveolar hemorrhage, Myo...	ORPHA:99827
Bohring-Opitz Syndrome	Bradycardia, Facial hypotonia, Bilateral wrist flexion contracture, Congenital contracture, Lower...	ORPHA:97297
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H...	ORPHA:90068
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction	OMIM:208000
Rh Deficiency Syndrome	Tachycardia, Hepatosplenomegaly	ORPHA:71275
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Hepatomegaly	ORPHA:348
Mogs-Cdg	Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect	ORPHA:79330
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hepatomegaly, Skeletal muscle hyp...	ORPHA:280365
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage	ORPHA:99931
Vici Syndrome	Congestive heart failure, Atrial septal defect, Cardiomyopathy, Left ventricular hypertrophy, Dil...	OMIM:242840
Abnormal Hair, Joint Laxity, And Developmental Delay	Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Porphyria Variegata	Tachycardia, Proximal muscle weakness in upper limbs, Hypertension	ORPHA:79473
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova...	OMIM:619343
Ethylene Glycol Poisoning	Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Facial palsy,...	ORPHA:31826
Renal Nutcracker Syndrome	Syncope, Orthostatic hypotension, Tachycardia	ORPHA:71273
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Bicuspid aortic valve, Patent foramen ovale, Elbow flexion contr...	OMIM:245600
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Graft Versus Host Disease	Dupuytren contracture, Myositis, Hepatosplenomegaly, Skeletal muscle atrophy, Tachycardia	ORPHA:39812
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor...	ORPHA:363705
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu...	ORPHA:3427
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Supraventricular tachycardia with an accessory connection mediated pathway,...	ORPHA:404443
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary...	OMIM:620642
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Hepatomegaly, Elevated jugular venous pressure, Cardiomyopathy, Portal ...	ORPHA:465508
Isolated Thyroid-Stimulating Hormone Deficiency	Macroglossia, Bradycardia	ORPHA:90674
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Tachycardia, Hypotension, Splenomegaly, Syncope	ORPHA:98849
Bacterial Toxic-Shock Syndrome	Myocarditis, Capillary leak, Myositis, Hypotension, Tachycardia, Shock	ORPHA:36234
Congenital Disorder Of Glycosylation, Type Iig	Camptodactyly, Left ventricular hypertrophy	OMIM:611209
Cholera	Tachycardia, Hypovolemic shock, Hypotension	ORPHA:173
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness	OMIM:619259
Bardet-Biedl Syndrome 1	Hypertension, Left ventricular hypertrophy	OMIM:209900
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardi...	ORPHA:158687
Sarcoidosis	Heart block, Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Portal hypertensi...	ORPHA:797
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal left ventricle morphology, Abnormal cardiac ventricular function, Patent foramen ovale, ...	ORPHA:466791
Familial Dysautonomia	Tachycardia, Hypertension, Orthostatic hypotension	ORPHA:1764
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Yellow Fever	Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri...	ORPHA:99829
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia	OMIM:620475
Marburg Hemorrhagic Fever	Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj...	ORPHA:99826
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Patent foramen ovale, Tricuspid regurgitation, Mitral valve calcification, Flexion ...	OMIM:619127
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Bradycardia	OMIM:218700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Hypertension, Pulmonary arterial hypertension	OMIM:613320
Cranioectodermal Dysplasia 2	Hepatomegaly, Patent foramen ovale, Hypertension, Splenomegaly, Left ventricular hypertrophy, Atr...	OMIM:613610
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Wolff-Parkinson-White syndrome	OMIM:601338
Acute Intermittent Porphyria	Tachycardia, Proximal muscle weakness in upper limbs, Hypertension, Proximal muscle weakness in l...	ORPHA:79276
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Pulmonic stenosis, Camptodactyly of finger, Abnormal h...	ORPHA:284984
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly	ORPHA:858
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, P...	OMIM:614437
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Melena, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, Epistaxis, S...	ORPHA:340
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal ...	OMIM:614947
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia, Cardiomegaly	ORPHA:228308
Sickle Cell Disease	Cardiomegaly, Hypertension, Splenomegaly, Hepatomegaly	OMIM:603903
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Flexion contracture, Hypertrophic cardiomyopathy	OMIM:616897
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly,...	OMIM:268800
3-Methylglutaconic Aciduria, Type Viii	Bradycardia	OMIM:617248
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Antenatal intracerebral hemorrhage, Knee flexion contracture, Elbo...	OMIM:608836
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Macroglossia, Bradycardia	ORPHA:226307
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Achalasia, Sinus bradycardia, Ineffective esophageal peristalsis	OMIM:619482
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Aortic valve atresia, Hypertension, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Bi...	OMIM:220111
Fontaine Progeroid Syndrome	Hypoplasia of the abdominal wall musculature, Tricuspid regurgitation, Pulmonary arterial hyperte...	OMIM:612289
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Tangier Disease	Facial diplegia, Coronary artery stenosis, Hepatosplenomegaly, Left ventricular hypertrophy	ORPHA:31150
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Arrhythmia, Overriding aorta, Atria...	OMIM:309801
Loeys-Dietz Syndrome 3	Aortic regurgitation, Atrial fibrillation, Ventricular hypertrophy, Camptodactyly, Pulmonic steno...	OMIM:613795
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Limb hypertonia, Tricuspid regurgitation	OMIM:620306
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Flexion contracture of toe, Joint contracture of the 5th finger, Elbow flexion cont...	OMIM:602782
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Aortic regurgitation, Cardiomegaly, Hypertension, Transient ischemic attack, Hyp...	ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
45,X/46,Xy Mixed Gonadal Dysgenesis	Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extremities, Prolonged QT int...	ORPHA:1772
Plague	Hematemesis, Hepatomegaly, Hypotension, Splenomegaly, Arrhythmia, Tachycardia, Endocarditis	ORPHA:707
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Lower limb muscle weakness, Ventricular fibrillation, Rhabdomyolysis, Incr...	ORPHA:79102
Tsh-Secreting Pituitary Adenoma	Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff...	ORPHA:91347
Distal Deletion 12Q	Patent foramen ovale, Elbow flexion contracture, Congenital hypertrophy of left ventricle	ORPHA:96149
Degcags Syndrome	Hepatomegaly, Dysplastic pulmonary valve, Patent foramen ovale, Pulmonary arterial hypertension, ...	OMIM:619488
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Small hypothenar eminence, Mu...	ORPHA:2463
Melas	Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers,...	ORPHA:550
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy	ORPHA:294023
Legius Syndrome	Pulmonic stenosis, Paroxysmal atrial tachycardia, Mitral valve prolapse	ORPHA:137605
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma	OMIM:191100
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect, Facial hypotonia	OMIM:618798
Mucolipidosis Ii Alpha/Beta	Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Diastasis recti, H...	OMIM:252500
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Hypertension, Cardiac myxoma, Supraventricular tachycardia	OMIM:181270
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Abnormality of masticatory muscle, Weakness of facial musc...	ORPHA:273
Gitelman Syndrome	Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven...	ORPHA:358
Congenital Tracheomalacia	Pulmonary arterial hypertension, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalou...	ORPHA:95430
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection f...	ORPHA:581
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma	OMIM:613254
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Fucosidosis	Cardiomegaly, Hepatomegaly, Decreased muscle mass	ORPHA:349
Lethal Congenital Contracture Syndrome 10	Torticollis, Increased variability in muscle fiber diameter, Cardiomegaly, Overriding aorta, Vent...	OMIM:617022
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomyopathy, Diastasis recti, Pancreatic hyperplasia, Cardiomeg...	OMIM:130650
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Mitral valve prolapse, Macroglossia	ORPHA:369950
Proteasome-Associated Autoinflammatory Syndrome 1	Congestive heart failure, Hepatomegaly, Flexion contracture of toe, Elbow flexion contracture, Ca...	OMIM:256040
Abetalipoproteinemia	Congestive heart failure, Distal lower limb muscle weakness, Hepatomegaly, Cardiomegaly, Myopathy	ORPHA:14
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cardiomegaly, Limb hypertonia, Patent foramen ovale, Tricuspid regurgitation, Retinal hemorrhage,...	OMIM:620371
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Arthrogryposis multiplex congenita	OMIM:608013
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Arthrogryposis multiplex congenita, Cardiomegaly, Macr...	OMIM:618143
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect...	ORPHA:391665
Aicardi-Goutières Syndrome	Myositis, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Raynaud phenomenon, Cardiomegaly, Mult...	ORPHA:51
Fucosidosis	Hepatomegaly, Generalized amyotrophy, Flexion contracture, Splenomegaly, Cardiomegaly, Macroglossia	OMIM:230000
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly	OMIM:620376
Singleton-Merten Syndrome 1	Congestive heart failure, Mitral valve calcification, Aortic valve stenosis, Tendon rupture, Musc...	OMIM:182250
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation, Splenomegaly, ...	OMIM:270400
Williams Syndrome	Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral valve prolapse, Cardiomegaly, Bicuspid...	ORPHA:904
Yunis-Varon Syndrome	Hypertension, Cardiomyopathy, Pulmonary arterial hypertension, Renovascular hypertension, Tetralo...	ORPHA:3472
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Hepatomegaly, Rhabdomyosarcoma, Leiomyosarcoma,...	ORPHA:116
Liver Disease, Severe Congenital	Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Systolic heart murmur, Dilatation of...	OMIM:619991
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Hypertension, Weak pulse, Transient ischemic attack, Pulmo...	ORPHA:51608
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly	OMIM:618278
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect, Macroglossia	ORPHA:96191

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 Casq2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Casq2.

No publications found that use IMPC mice or data for Casq2.

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

MGI Allele	Allele Type	Produced
Casq2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Casq2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Casq2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Casq2 MGI:1309469

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Embryo LacZ

MicroCT E14.5-E15.5

Gross Pathology and Tissue Collection

Adult LacZ

X-ray

Eye Morphology

Eye Morphology

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

Human diseases caused by Casq2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data