Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 8 (sodium/calcium exchanger), member 1
Synonyms:
Ncx1,  D930008O12Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc8a1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Slc8a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Reduced left ventricular ejection fraction, Atrial fibrillation, Elevate... OMIM:612201
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology OMIM:211400
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613876
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology OMIM:613021
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol... OMIM:614676
Pancreatic Agenesis 2
Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabet... OMIM:615935
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 18
Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial... OMIM:613874
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Barth Syndrome
Abnormal mitochondrial morphology, Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures OMIM:256450
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Increased en... OMIM:602541
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial complex I, Hypertrophic cardi... OMIM:618378
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Pancreatitis, Hereditary
Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic c... OMIM:167800
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de... OMIM:260370
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
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy OMIM:610773
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Steatorrhea, Exocrine pancreatic insufficiency OMIM:618752
Mody
Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Myofibrillar Myopathy 10
Ankle flexion contracture, Knee flexion contracture, Prolonged QTc interval, Percussion myotonia,... OMIM:619040
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Decreased activity of mitochondr... OMIM:500013
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Mitochondrial swellin... OMIM:618250
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hy... OMIM:616276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Abnormality of the pancreatic islet cells OMIM:606762
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Mitochondrial deplet... OMIM:611705
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular... ORPHA:3092
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Fatty replacement o... ORPHA:397744
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Splenomegaly OMIM:612714
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopa... OMIM:616198
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Left ventricular hy... OMIM:619048
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Decreased activity of mitoc... OMIM:613642
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal ... OMIM:619518
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic steno... OMIM:108900
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Aortic valve c... ORPHA:3093
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Mitochondrial respiratory chain defects, Arrhythmia, Ventricular preexcit... ORPHA:104
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle... ORPHA:86812
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency OMIM:260450
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... ORPHA:563
Atrial Fibrillation, Familial, 15
Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde... OMIM:615770
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Ragged-red muscle fibers, Abnormal mitochondrial shape, Patent foramen ... ORPHA:17
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Steatorrhea, Asplenia, Hypothyroidism, Chronic hepatitis, Primary adrenal insufficienc... OMIM:269200
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Wea... OMIM:620265
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block, Abnormal cardiac septum morphology ORPHA:1479
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl... ORPHA:57777
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Delayed puberty, Hypothyroidism, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Achalasia... OMIM:615952
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
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
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame... OMIM:614302
Atrial Standstill 2
Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
X-Linked Lissencephaly With Abnormal Genitalia
Hypohidrosis, Cryptorchidism, Exocrine pancreatic insufficiency ORPHA:452
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Familial Pancreatic Carcinoma
Intermittent diarrhea, Jaundice, Peritoneal abscess, Diabetes mellitus, Hepatosplenomegaly, Exocr... ORPHA:1333
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Generalized amyotrophy, Arrhythmia, Wea... ORPHA:352447
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp... OMIM:300696
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling OMIM:615595
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular systolic dysfunction, Skeletal muscle hypertrophy, Facial pa... OMIM:613156
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Achilles ten... OMIM:615418
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Nathalie Syndrome
Arrhythmia ORPHA:2663
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Severely reduced left ventricular eject... ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:618228
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy, Left ventricular hypertrophy OMIM:102200
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Flexion contracture, Left ventricular hypertrophy OMIM:616733
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Knee flexion contracture, Noncompaction cardiomyopathy, Dis... ORPHA:3208
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Hy... OMIM:300280
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus OMIM:246650
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Macroglossia ORPHA:412217
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnor... ORPHA:93111
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi... ORPHA:456312
Barth Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Abnormal mitochon... OMIM:302060
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Abnormal mitochondrial morphology, Lower li... ORPHA:99013
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame... OMIM:612999
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy, Decreased mitochondrial number ORPHA:352470
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Central hypothyroidism, Hypothyroidism, Exocrine pancreatic insufficiency... ORPHA:1667
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Hypertension, Aortopulmonary window, Abnor... ORPHA:2299
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Decreased activity of mitochondrial complex I, Facial palsy, Generalize... OMIM:615084
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia, Umbilical hernia ORPHA:95717
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Myopathy, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotensio... OMIM:261740
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Abnormality of the mitochondrion, Myopathy, Hypertrophic car... ORPHA:91130
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve... ORPHA:1686
Tangier Disease
Hepatomegaly, Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Myo... OMIM:205400
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Facial muscle hypertrophy, Percussion myotonia, Myotonia of the upper limb, Co... ORPHA:684
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ... OMIM:609286
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus OMIM:126320
Johanson-Blizzard Syndrome
Diabetes mellitus, Exocrine pancreatic insufficiency, Abnormality of the pancreas ORPHA:2315
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Steatorrhea, Hepatomegaly, Hypothyroidism, Diabetes mellitus, Exocrine pancreati... OMIM:616263
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertrophy, Atrial septal defec... OMIM:615355
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... ORPHA:154
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr... ORPHA:251274
Glycogen Storage Disease Iv
Bradycardia, Cardiomyopathy, Portal hypertension, Flexion contracture, Skeletal muscle atrophy, A... OMIM:232500
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Shwachman-Diamond Syndrome 2
Steatorrhea, Hyperechogenic pancreas, Hepatomegaly, Diarrhea, Exocrine pancreatic insufficiency OMIM:617941
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenom... OMIM:160800
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano... ORPHA:99094
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... OMIM:619747
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glucose intolerance, Pancreatic hypoplasia, Impaired glucos... OMIM:137920
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Fabry Disease
Congestive heart failure, Ventricular septal hypertrophy, Angina pectoris, Hypertension, Transien... OMIM:301500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, Accessory spleen, Micr... OMIM:619418
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert... OMIM:616501
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Pulmonary Hypertension, Primary, 5
Angina pectoris, Pulmonary arterial hypertension, Right ventricular failure, Right ventricular hy... OMIM:265400
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Congenital Fibrinogen Deficiency
Tachycardia, Right ventricular hypertrophy, Internal hemorrhage, Left ventricular hypertrophy ORPHA:335
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Diarrhea, Meconium ileus, Biliary cirrhosis, ... OMIM:219700
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glycosuria, Cirrhosis, Glucose intolerance, Exocrine pancreatic insufficiency OMIM:616539
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology, Webbed neck ORPHA:1131
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Rauch-Steindl Syndrome
Hepatomegaly, Exocrine pancreatic insufficiency, Chronic constipation OMIM:619695
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Hyp... ORPHA:79230
Sengers Syndrome
Decreased activity of mitochondrial complex I, Cardiac arrest, Hypertrophic cardiomyopathy, Pulmo... OMIM:212350
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Myopathy OMIM:617713
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Ven... OMIM:618775
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive... ORPHA:308552
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Fumarase Deficiency
Mitochondrial swelling, Perimembranous ventricular septal defect OMIM:606812
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Mitochondrial Trifunctional Protein Deficiency
Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Left ventricular hypertrophy, ... ORPHA:746
Deeah Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Neonatal hypoglycemia, Chron... OMIM:619004
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract obs... ORPHA:439232
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Accessory spleen, Chronic diarrhea, Cholestasis, Prolonged neonatal jaun... OMIM:300972
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Sc... ORPHA:353
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Chronic diarrhea, Vomiting, Macronodular cirrhosis, Exocrine pancreati... OMIM:557000
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage, Patent ductus arteriosus OMIM:617397
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Dystonia 23
Torticollis, Arrhythmia OMIM:614860
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Facial diplegia, Scapular winging, Facial palsy, Generalized amy... ORPHA:169186
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Abnormali... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... OMIM:115197
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Hemochromatosis, Type 2A
Congestive heart failure, Azoospermia, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy OMIM:602390
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Atrial flutter, Abnormal tricuspid valve morphology, Patent ductus arterio... ORPHA:1330
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Maternal diabetes, Vomiting, Nausea, Pancreatic ca... ORPHA:103918
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:255700
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Aortic regurgitation, Abnormal heart valve morphology, Tendon thickening... ORPHA:230851
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... ORPHA:206549
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Pancreatic steatosis, Cryptorchidism OMIM:617052
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Colitis ORPHA:309031
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Diabetes insipidus, Pancreatic aplasia, Exocrine pancreatic insufficiency, Absent gallbladder, Ty... OMIM:618500
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Steatorr... ORPHA:699
Verheij Syndrome
Short neck, Truncus arteriosus, Ventricular septal defect, Branchial cyst OMIM:615583
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Increased mitochondrial number, Decreased activity of mitochondr... OMIM:615578
Trichohepatoneurodevelopmental Syndrome
Steatorrhea, Hepatomegaly, Cholelithiasis, Gastroesophageal reflux, Chronic diarrhea, Hypoplastic... OMIM:618268
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Cardiomyopathy, Rhabdomyolysis, Decreased plasma total carnitine, Arrhyt... ORPHA:228305
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia, Umbilical hernia ORPHA:226313
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Congenital Myopathy 22A, Classic
Bradycardia, Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contractures, ... OMIM:620351
Shwachman-Diamond Syndrome 1
Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency OMIM:260400
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Weakness of facial musculature, Bradycardia, Facial diplegia, ... ORPHA:70
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia, Umbilical hernia ORPHA:95716
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgitation, Left ventricular hypert... OMIM:619698
Myopathy With Lactic Acidosis, Hereditary
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex II, In... OMIM:255125
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Camptodactyly, Bradycardia OMIM:610015
Idiopathic/Heritable Pulmonary Arterial Hypertension
Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h... ORPHA:422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Generalized amyotrophy, Joint contracture, Arrhythmia OMIM:616516
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Apparent Mineralocorticoid Excess
Hypertension, Left ventricular hypertrophy ORPHA:320
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Flexion contracture, Patent ductus arteriosus, Tachycardia, Atrial septal defect, V... OMIM:613870
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia ORPHA:85447
Necrotizing Enterocolitis
Shock, Abnormal heart morphology, Hypotension, Bradycardia ORPHA:391673
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia, Joint contracture of the 5th finger OMIM:614407
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Skeletal muscle atrophy, Flexion contracture, Arrhythmia, Myopathy ORPHA:157973
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Fabry Disease
Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Angi... ORPHA:324
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr... OMIM:611878
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intermittent diarrhea, Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis,... ORPHA:2255
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi... ORPHA:228410
Emery-Dreifuss Muscular Dystrophy
Myotonia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Prox... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Myotonia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Prox... ORPHA:98853
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Left ventricular hypertrophy OMIM:619355
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia, Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased ... ORPHA:34516
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Left ventricular hypertrophy ORPHA:93952
Paramyotonia Congenita
Paradoxical myotonia, Percussion myotonia, Handgrip myotonia, Skeletal muscle hypertrophy OMIM:168300
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Limb hypertonia, Bradycardia OMIM:614498
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Elevated pulmonary artery pressure, Congestive heart failu... ORPHA:1329
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Shwachman-Diamond Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Steatorrhea, Pancreatic hypo... ORPHA:811
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral stenosis, Mitral valve prolapse, Left vent... OMIM:616564
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Increased blood pressure, Hypertension, Portal hypertension, Pericarditis, Pericard... OMIM:619487
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Pleural effusion, Increased nuchal translucency... ORPHA:453499
Mucolipidosis Type Ii
Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic regurgitation, Knee flexion con... ORPHA:576
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Muscular dystrophy, Knee flexion contracture, Calf muscle pseudohypertr... OMIM:310200
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Distal arthrogryposis, Arrhythmia, Cardiomegaly, Decreased plasma total ... ORPHA:42
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Spina bifida occulta, Skeletal muscle atrophy, Mitral valve prolapse... ORPHA:230839
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Portal hypertension, Hypothyroidism, Macronodular cirrhosis, Exocrine pancreati... OMIM:620005
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Branchial cyst, Dehydration ORPHA:2260
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia ORPHA:99944
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Tachycardia, Ventricular sept... OMIM:614653
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Atrial septal defect, Left-to-right shunt, Left ventricular hypertrophy OMIM:620510
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Brody Disease
Skeletal muscle hypertrophy, Percussion myotonia, Flexion contracture, Myotonia OMIM:601003
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Camptoda... ORPHA:1194
Autosomal Dominant Progressive External Ophthalmoplegia
Hypomimic face, Reduced left ventricular ejection fraction, Atrial fibrillation, Ragged-red muscl... ORPHA:254892
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:618321
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Myositis, Scapular winging, EMG: myopathic abnormalities, ... ORPHA:206569
Cystic Fibrosis
Cirrhosis, Steatorrhea, Gastroesophageal reflux, Meconium ileus, Exocrine pancreatic insufficienc... ORPHA:586
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Pulmonary arterial hypertension, Tr... ORPHA:275766
Annular Pancreas
High intestinal obstruction, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Annular pancreas OMIM:167750
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Prolonged QT interval, Bradycardia, Skeletal muscle hypertrophy, Atrial fibri... OMIM:613327
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnorm... ORPHA:85446
Cystinosis, Nephropathic
Delayed puberty, Hepatomegaly, Male hypogonadism, Primary hypothyroidism, Hypohidrosis, Glycosuri... OMIM:219800
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Prolonged QRS complex, Cardiomegaly, P... ORPHA:75565
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Atrial fibrillation, Supraventricular arrhythmia, Tricuspid regurgitatio... ORPHA:75249
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc... ORPHA:732
Zebra Body Myopathy
Muscle fiber splitting, Handgrip myotonia, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG... ORPHA:97240
Myotonia, Potassium-Aggravated
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia, Skeletal muscle at... OMIM:608390
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myotonia, Myopathy OMIM:158800
Myotonic Dystrophy 2
Handgrip myotonia, Right bundle branch block, Premature ventricular contraction, Sternocleidomast... OMIM:602668
Dk1-Cdg
Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Arrhythmia, D... ORPHA:91131
Myopathy, X-Linked, With Excessive Autophagy
Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Myoto... OMIM:310440
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Tricuspid regurgitation, Dysplastic ... OMIM:620067
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, Left ventricular... ORPHA:365
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mitral stenosis, Abnormal hea... ORPHA:2847
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular septal defect OMIM:249270
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Mitral regurgitation, Left ventricular hypertrophy OMIM:617168
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia, Skeletal muscle atrophy OMIM:254950
Orofaciodigital Syndrome Type 1
Pancreatic cysts, Exocrine pancreatic insufficiency, Abnormality of the pancreas ORPHA:2750
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Hepatomegaly, Abnormal pancreas morphology, Hypoglycemia, Pseudohypoparath... ORPHA:116
Liver Disease, Severe Congenital
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Diarrhea, C... OMIM:619991
Carnitine-Acylcarnitine Translocase Deficiency
Decreased circulating carnitine concentration, Cardiomyopathy, Hypotension, Rhabdomyolysis, Arrhy... ORPHA:159
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia, Umbilical hernia ORPHA:90673
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyo... ORPHA:57
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly OMIM:266500
Hemochromatosis, Type 1
Congestive heart failure, Azoospermia, Cardiomyopathy, Arrhythmia, Cardiomegaly, Telangiectasia OMIM:235200
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Hypertension, Pulmonary arterial hypertension, Right ventricular ... OMIM:178600
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:156
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Decreased activity of mitochondrial complex I, Hypertrophic car... OMIM:615471
Alagille Syndrome 1
Cirrhosis, Hepatocellular carcinoma, Cholestasis, Papillary thyroid carcinoma, Prolonged neonatal... OMIM:118450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase compl... OMIM:614052
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Facial diplegia, Myotonia, First degree atrioventricular block OMIM:160900
D-Glyceric Aciduria
Bradycardia, Patent ductus arteriosus OMIM:220120
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Small thenar eminence, Camptodactyly, Left ventricular hypertrophy OMIM:619148
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Myotonia, Skeletal muscle atrophy ORPHA:371
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency ORPHA:508498
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Decreased circulating carnitine concentration, Scapular winging, Cardio... ORPHA:26791
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Pericarditis, Abn... ORPHA:3099
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Distal lower limb muscle weakness, Handgrip myotonia, Weakness of long finger extensor muscles, W... ORPHA:324442
Holoprosencephaly
Encephalocele, Branchial anomaly, Tetralogy of Fallot, Arrhythmia, Short neck, Spinal dysraphism,... ORPHA:2162
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Myotonia Fluctuans
Handgrip myotonia, Myotonia of the upper limb, Myotonia with warm-up phenomenon, Spasticity of fa... ORPHA:99734
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pericardial effusion, Ventricu... ORPHA:26793
Bor Syndrome
Branchial cyst ORPHA:107
Lujo Hemorrhagic Fever
Myocarditis, Bradycardia, Hypotension, Subconjunctival hemorrhage, Shock ORPHA:319213
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Absence Of The Pulmonary Artery
Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Reduced left ventric... ORPHA:980
Hydrops Fetalis
Capillary leak, Pericardial effusion, Abnormal heart morphology, Arrhythmia ORPHA:1041
Hyperkalemic Periodic Paralysis
Congestive heart failure, Skeletal muscle hypertrophy, Skeletal muscle atrophy, Myotonia, Arrhyth... ORPHA:682
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor... ORPHA:363705
Vici Syndrome
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Left ventricular hypertrophy, Dil... OMIM:242840
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Abnormal heart morphology, Arrhythmia, Atrioventricular block... ORPHA:398124
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia, Limb hypertonia, Congenital foot contractures ORPHA:565624
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Left ventricular hypertrophy OMIM:611209
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Arrhythmia ORPHA:2928
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopathy, Abnormalit... ORPHA:565612
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Truncus arteriosus, Atrial septal defect, Ventricular septal defect, Branch... ORPHA:261330
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Palpebral edema, Webbed neck, Low posterior hairline, Tricuspid regurgi... ORPHA:261337
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
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Infantile Refsum Disease
Facial palsy, Cardiomyopathy, Arrhythmia ORPHA:772
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Spina bifida occul... OMIM:617877
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Bohring-Opitz Syndrome
Bradycardia, Facial hypotonia, Bilateral wrist flexion contracture, Congenital contracture, Lower... ORPHA:97297
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Increased nuchal translucency, Abnormal heart morphology, Cystic hygroma, Bicu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Increased nuchal translucency, Abnormal heart morphology, Cystic hygroma, Bicu... ORPHA:352665
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Hec Syndrome
Endocardial fibroelastosis, Cardiomyopathy, Arrhythmia ORPHA:2119
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hematemesis, Melena, Bradycardia, Capillary leak, Hypertension, Hypotension, Retinal... ORPHA:99827
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Atrioventricular canal defect, Spina bifida occulta, Abnormal pu... ORPHA:500
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Arrhythmia ORPHA:3191
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Cardiomyopathy, Rhabdomyolysis, Decreased plasma total carniti... ORPHA:157
Congenital-Onset Steinert Myotonic Dystrophy
Facial hypotonia, Myotonia, Bundle branch block, First degree atrioventricular block, Abnormal ca... ORPHA:589821
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Bradycardia, Umbilical hernia ORPHA:90674
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Myotonia, Firm muscles OMIM:255710
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Bardet-Biedl Syndrome 1
Hypertension, Left ventricular hypertrophy OMIM:209900
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Calf muscle hypertrophy, Upper limb muscle weakness, Proximal amyotrophy, Myotonia, Lower limb mu... ORPHA:209335
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Exocrine pancreatic insufficiency, Dysphagi... ORPHA:508488
Hypokalemic Periodic Paralysis, Type 1
Myotonia, Myopathy OMIM:170400
Thomsen And Becker Disease
Myotonia ORPHA:614
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary insufficiency, Bradycardia, Pulmonary arterial hyperte... OMIM:614437
Neuroleptic Malignant Syndrome
Bradycardia, Hypertension, Hypertensive crisis, Hypotension, Rhabdomyolysis, Arrhythmia, Tachycar... ORPHA:94093
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Double Outlet Right Ventricle
Tachycardia, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Heart murmur, Double out... ORPHA:3426
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal cardiac ventricle morphology, Monoclonal light chain cardia... ORPHA:85443
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Mildly reduced left ventricular ejection fraction, Arrhythmia OMIM:618098
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Abnormal cardiac ventricular function, Patent foramen ovale, ... ORPHA:466791
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia ORPHA:3386
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Arrhythmia, Dilated cardiomyopathy, Myopathy OMIM:609015
Noonan Syndrome 5
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia OMIM:611553
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Heart block, Cardiomyopathy, Decreased plasma total carnitine,... ORPHA:228308
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Acquired Methemoglobinemia
Syncope, Palpitations, Arrhythmia, Tachycardia ORPHA:464453
Chromosome 2Q37 Deletion Syndrome
Subvalvular aortic stenosis, Arrhythmia OMIM:600430
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:254913
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arthrogryposis multiplex congenita, Arrhythmia, Intrauterine growth retarda... ORPHA:254346
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Typhoid
Gastrointestinal hemorrhage, Cardiac arrest, Epistaxis, Arrhythmia ORPHA:99745
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatomegaly, Primary hypothyroidism, Hypoplastic nipples, Portal hyper... OMIM:243800
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Knee flexion contracture, Elbow flexion contracture, Decrease... OMIM:608836
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Patent foramen ovale, Mitral valve calcification, Tricuspid regurgitation, Flexion ... OMIM:619127
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Richieri Costa-Da Silva Syndrome
Distal lower limb muscle weakness, Handgrip myotonia, Asymmetric limb muscle stiffness, Myotonia ... ORPHA:3101
Eisenmenger Syndrome
Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef... ORPHA:97214
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia OMIM:277400
Cranioectodermal Dysplasia 2
Hepatomegaly, Patent foramen ovale, Hypertension, Splenomegaly, Left ventricular hypertrophy, Atr... OMIM:613610
Ogden Syndrome
Cardiogenic shock, Ventricular septal defect, Torticollis, Arrhythmia ORPHA:276432
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Myotonia ORPHA:99736
Singleton-Merten Syndrome 2
Aortic valve stenosis, Aortic valve calcification, Arrhythmia OMIM:616298
Histiocytoid Cardiomyopathy
Congestive heart failure, Atrial flutter, Wolff-Parkinson-White syndrome, Tachycardia, Atrial fib... ORPHA:137675
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Polyhydramnios, Patent foramen ovale, Pulmonary arterial hypertension, Natal tooth, Right ventric... OMIM:620186
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Hypokalemic Periodic Paralysis, Type 2
Myotonia OMIM:613345
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Bradycardia, Umbilical hernia OMIM:218700
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Hypotension, Arrhythmia ORPHA:188
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Myositis, Arrhythmia, Viral ... ORPHA:99845
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Combined Oxidative Phosphorylation Deficiency 39
Congenital contracture, Joint contracture, Sinus bradycardia, Flexion contracture, Arthrogryposis... OMIM:618397
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Elevated jugular venous pressure, Cardiomyopathy, Portal hypertension, ... ORPHA:465508
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia ORPHA:2238
Marburg Hemorrhagic Fever
Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj... ORPHA:99826
Treacher-Collins Syndrome