Gene Summary

Name:
calcium channel, voltage-dependent, L type, alpha 1C subunit
Synonyms:
D930026N18Rik,  Cav1.2,  L-type Cav1.2,  Cchl1a1,  (alpha)1 subunit

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal placenta morphology Cacna1cem1(IMPC)Mbp HET E15.5 0.00
abnormal caudal vertebrae morphology Cacna1cem1(IMPC)Mbp HET   Early adult 1.19×10-06
increased freezing behavior Cacna1cem1(IMPC)Mbp HET Early adult 2.30×10-06
preweaning lethality, complete penetrance Cacna1cem1(IMPC)Mbp HOM   Early adult 0.00
abnormal liver morphology Cacna1cem1(IMPC)Mbp HET Early adult 0.00
prenatal lethality prior to heart atrial septation Cacna1cem1(IMPC)Mbp HOM   E15.5 0.00
enlarged spleen Cacna1cem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Cacna1cem1(IMPC)Mbp HET Early adult 0.00
small kidney Cacna1cem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Cacna1cem1(IMPC)Mbp HET Early adult 0.00
small liver Cacna1cem1(IMPC)Mbp HET Early adult 0.00

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Cacna1c 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.

The table below shows human diseases predicted to be associated to Cacna1c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Persistent Idiopathic Facial Pain
Somatic sensory dysfunction, Impaired pain sensation, Anxiety, Paresthesia, Depression ORPHA:398147
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Cardiac Lipidosis, Familial
Death in infancy, Cardiomyopathy, Congestive heart failure OMIM:212080
Chorea, Benign Hereditary
Anxiety, Chorea, Gait disturbance OMIM:118700
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Acne Inversa, Familial, 3
Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613737
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... ORPHA:860
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Nathalie Syndrome
Arrhythmia ORPHA:2663
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Endocardial Fibroelastosis
Cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis OMIM:226000
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:604765
Cardiomyopathy, Dilated, 1U
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613697
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Cor pulmonale, Hypertension, Right ventricular hypertrophy OMIM:268500
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Childhood Disintegrative Disorder
Impaired social interactions, Progressive language deterioration, Motor stereotypy, Anxiety, Deme... ORPHA:168782
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure, Increased variability in muscle fiber diameter, Type 1 mu... OMIM:618654
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Right ventricular hypertrophy, Syncope, Angina pectoris, Right v... OMIM:265400
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Congestive heart failure, Heart murmur, Ab... ORPHA:3400
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive heart failure, Abnormalit... ORPHA:206546
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Left ventricular systolic dysfunction, Increased endomysial connecti... ORPHA:353
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... OMIM:108770
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Coronary Arterial Fistula
Coronary artery aneurysm, Cardiomegaly, Patent foramen ovale, Abnormal left ventricular function,... ORPHA:2041
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Pulmonary arterial hypertensio... ORPHA:275766
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Muscle fiber atrophy, Multiple join... ORPHA:324604
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Arterial intimal fibrosi... OMIM:178600
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Behavioral Variant Of Frontotemporal Dementia
Memory impairment, Motor stereotypy, Fasciculations, Mental deterioration, Emotional blunting, Ag... ORPHA:275864
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Left ventricular hypertrophy, Subcuta... ORPHA:335
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Patent ductus arteriosus, Dist... OMIM:619519
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Dilatation of the cerebral arte... ORPHA:615
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Death in adolescence, ... OMIM:605676
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Atrial fibrillation, Left atrial enlargement, Congestive heart failure OMIM:617047
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis... OMIM:253700
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Hypertension, Patent ductus arteriosus, Right ventricular hypert... OMIM:613623
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Congestive heart failure OMIM:618234
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Sandhoff Disease
Cherry red spot of the macula, Splenomegaly, Hepatomegaly, Congestive heart failure ORPHA:796
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Congestive heart failure, Scapuloperoneal amyotrophy, Hypertrophic cardio... OMIM:255160
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Abnorma... ORPHA:229
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Abnormal left ventricular function, Congestive heart failure, Arrhythmia, Ragged-red muscle fiber... OMIM:540000
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Severely r... ORPHA:444013
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Tako-Tsubo Cardiomyopathy
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... ORPHA:66529
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Tor... OMIM:249670
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Tendon rupture, Angina pectoris,... ORPHA:85451
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Atrial fibrillation, Congestive heart failure OMIM:614672
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Tyrosinemia Type 1
Generalized aminoaciduria, Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carc... ORPHA:882
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Aggressive behavior, Shyness OMIM:618221
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... OMIM:113900
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Lethal Congenital Contracture Syndrome 3
Neonatal death, Multiple joint contractures, Arthrogryposis multiplex congenita, Skeletal muscle ... OMIM:611369
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Inflammatory abnormality of the skin, Crusti... ORPHA:79147
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Cardiomyopathy, Familial Hypertrophic, 21
Cardiomyopathy, Arrhythmia OMIM:614676
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Ventricular hypertrophy, Bradycardia, Left ventricular hy... OMIM:619048
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Neutropenia, Anemia, Depression OMIM:602079
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Dilated third ventricle, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Di... ORPHA:363654
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Syst... ORPHA:555874
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Huntington Disease-Like 1
Dysmetria, Anxiety, Aggressive behavior, Unsteady gait, Chorea, Depression OMIM:603218
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Bicuspid aortic valve, Patent ductus arteriosus, Gray matter h... OMIM:300049
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic ... ORPHA:397933
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Ventriculomegaly, Tremor OMIM:619561
Huntington Disease-Like 2
Anxiety, Bradykinesia, Apathy, Irritability, Chorea, Depression OMIM:606438
Grange Syndrome
Aortic regurgitation, Patent ductus arteriosus, Hypertension, Ventricular septal defect, Arterial... ORPHA:79094
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Lissencephaly, Ventricular septal defect, Arthrogryposis multiplex congenit... OMIM:208085
Chronic Actinic Dermatitis
Pruritus, Eczema, Erythroderma, Allergic rhinitis, Late onset atopic dermatitis ORPHA:330064
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Ataxia, Depression, Difficulty walking OMIM:619191
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Arrhythmia, Congestive heart failure, Atrial septal defect, Pate... ORPHA:1880
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Congestive heart failure, Atria... ORPHA:90308
Nephronophthisis 19
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:616217
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter OMIM:615770
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced ejection fraction, Lower limb muscle weakness, P... ORPHA:268
Bronchopulmonary Dysplasia
Right ventricular failure, Right ventricular hypertrophy ORPHA:70589
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Aortic regurgitation, Patent ductus arteriosus, Abnormal left... OMIM:132900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic regurgitation, Patent ductus arteriosus, Periventricular ... ORPHA:98892
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Arrhythmia, Congestive heart failure, Skeletal muscle atrophy, Myopathy, Dea... ORPHA:157973
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Coproporphyria, Hereditary
Anxiety, Splenomegaly, Hepatomegaly, Increased urinary porphobilinogen, Jaundice, Depression, Ele... OMIM:121300
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Facial myokymia, Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure OMIM:606703
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Cardiom... OMIM:602390
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Cardiac Diverticulum
Diastasis recti, Tricuspid atresia, Premature ventricular contraction, Pulmonary artery hypoplasi... ORPHA:1686
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Familial Cutaneous Collagenoma
Atrial septal defect, Angina pectoris, Cardiomyopathy, Congestive heart failure ORPHA:53296
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm ORPHA:542306
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Hypertension, Ventricular septal defect, Arrhythmia OMIM:617021
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Desminopathy
Concentric hypertrophic cardiomyopathy, Congestive heart failure, Sudden cardiac death, Atriovent... ORPHA:98909
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Retinal telangiectasia, Arrhythmia ORPHA:104
Infantile Sialic Acid Storage Disease
Congestive heart failure, Splenomegaly, Hepatomegaly, Death in childhood, Cardiomegaly OMIM:269920
Laubry-Pezzi Syndrome
Patent foramen ovale, Abnormal aortic valve cusp morphology, Congestive heart failure, Aortic reg... ORPHA:99094
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Patent ductus ar... OMIM:616501
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Prolonged QT interval, Ventr... OMIM:601005
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Congestive heart failure, Reduced muscle carnitine level, Hypertrophi... OMIM:212140
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pruritus, Pustule ORPHA:2897
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Chest pain, Ventricular fibrillation, Cardiac arrest, Hypertrophi... OMIM:115197
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:609040
Hemochromatosis, Type 2B
Splenomegaly, Cardiomyopathy, Hepatomegaly, Congestive heart failure OMIM:613313
Familial Dyskinesia And Facial Myokymia
Facial myokymia, Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure ORPHA:324588
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Peripheral arteriovenous fistula, Prominent superficial veins, Conges... ORPHA:141179
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Short chordae tendineae of the mitral valve, Congestive heart failure, Shor... OMIM:314400
Meckel Syndrome, Type 7
Portal hypertension, Hepatosplenomegaly, Patent ductus arteriosus, Atrial septal defect, Situs in... OMIM:267010
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Myocardial infarction, Hypertension, Congestive heart ... OMIM:615703
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, P... OMIM:615382
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor ORPHA:98807
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Pulmonary arteri... OMIM:616028
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertension, Hypertension, Bi... OMIM:613355
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Barth Syndrome
Dilated cardiomyopathy, Skeletal myopathy, Arrhythmia, Endocardial fibroelastosis, Congestive hea... OMIM:302060
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Foxg1 Syndrome
Impaired social interactions, Cognitive impairment, Choreoathetosis, Motor stereotypy, Stereotypi... ORPHA:561854
Naxos Disease
Paroxysmal ventricular tachycardia, Arrhythmia, Congestive heart failure, Sudden cardiac death, C... ORPHA:34217
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Fatigue, Cardiomyopathy, Cardio... OMIM:617713
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Lissencephaly, Ventricular septal defect, Arthrogryposis multiplex congenita, Right ventricular h... OMIM:613404
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Poor coordination, Aggressive behavior, Recurrent hand flapping OMIM:309548
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Myopathy ORPHA:91130
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic ... OMIM:618845
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Peripheral arteriovenous fistula, Prominent superficial veins, Conges... ORPHA:141184
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... OMIM:614022
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... OMIM:619658
Immune-Mediated Necrotizing Myopathy
Myositis, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle weakness in lower limbs... ORPHA:206569
Fraxe Intellectual Disability
Stereotypical body rocking, Clumsiness, Aggressive behavior, Recurrent hand flapping ORPHA:100973
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Ventricular septal defect, Paroxy... ORPHA:49827
Amyloidosis, Familial Visceral
Nephrotic syndrome, Cholestasis, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Coronary artery calcification, Congestive heart failure OMIM:614473
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus ORPHA:280785
Dystonia 23
Arrhythmia OMIM:614860
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Illum Syndrome
Bradycardia OMIM:208155
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Cardiomegaly OMIM:266500
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Atrioven... OMIM:212138
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale OMIM:614261
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pulmonary arterial hyper... ORPHA:2414
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Alopecia-Intellectual Disability Syndrome 4
Microcephaly, Erythroderma, Hypoplasia of the corpus callosum OMIM:618840
Idiopathic/Heritable Pulmonary Arterial Hypertension
Chest pain, Right ventricular dilatation, Elevated jugular venous pressure, Abnormal cardiovascul... ORPHA:422
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal def... OMIM:126320
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Myocardial infarction, Prol... ORPHA:90065
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Flexion contracture, Arrhythmia, Congestive heart failure, H... ORPHA:1194
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Bence Jones Proteinuria, Anemia, Abnormal B cell count, Lymphadenopat... ORPHA:100024
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Cednik Syndrome
Polymicrogyria, Pachygyria, Congestive heart failure ORPHA:66631
Absence Of The Pulmonary Artery
Atrial fibrillation, Cardiomegaly, Abnormal hemidiaphragm morphology, Patent foramen ovale, Paten... ORPHA:980
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Myocardial infarction, Hypertension, Arterial stenosis, Generalized art... OMIM:208000
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618652
Wild Type Abeta2M Amyloidosis
Abnormal tendon morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Ab... ORPHA:85446
Variegate Porphyria
Tachycardia OMIM:176200
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Parkinsonism, Memory impairment, Abnormal social behavior, Apraxia, Dementia, ... ORPHA:1020
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613736
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Prolonged QT interval, No... OMIM:610198
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Congestive heart failure, Abnormal EKG, ... OMIM:310200
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... OMIM:300257
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Flexion contracture, Patent foramen ovale, Patent ductus arteriosus, ... OMIM:616867
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, A... OMIM:265380
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Accelerated atheroscle... OMIM:264800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Contracture... ORPHA:324410
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia, Abnormal cardiac septum morphology ORPHA:99811
Congenital Disorder Of Glycosylation, Type If
Cerebral atrophy, Ataxia, Microcephaly, Erythroderma, Hypertonia OMIM:609180
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Atypical Rett Syndrome
Impaired social interactions, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involunt... ORPHA:3095
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Abnormal form of the vertebral bodies ORPHA:1802
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Patent foramen ovale, Patent ductus arteriosus, Congestive heart failure, Ge... OMIM:616866
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemi... OMIM:616278
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Hemiparesis, Cortical dysplasia, Dilation of lateral ventricles, Cerebral ... ORPHA:101071
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Stereotypical hand wringing, Microcephaly, Spasticity, Cerebral white matter hy... ORPHA:500545
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Telangiectasia, Splenomegaly, Hepatomegaly, Cardiomyopathy,... OMIM:235200
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation OMIM:613980
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Spastic gait, Colpocephaly, Lower limb spasticity, Limb hypertoni... ORPHA:401815
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 11
Atrial fibrillation OMIM:614049
Atrial Fibrillation, Familial, 6
Atrial fibrillation OMIM:612201
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Self-injurious behavior, Chorea OMIM:618760
Autosomal Recessive Non-Syndromic Intellectual Disability
Cerebral atrophy, Motor stereotypy, Microcephaly, Spasticity, Chorea, Cortical dysplasia, Hypopla... ORPHA:88616
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failur... ORPHA:363705
Congenital Tricuspid Stenosis
Congestive heart failure, Tricuspid stenosis, Hypotension, Pulmonary arterial hypertension, Heart... ORPHA:95459
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Ragged-red muscle fibers, Hypertrophic cardiomy... ORPHA:1349
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Abnorm... ORPHA:732
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hypoplastic vertebral bodies, Cholestasis, Hepatic bridging fibrosis, Beaking ... OMIM:618641
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hepatomegaly, Cardiomegaly, Myocardial fibrosis OMIM:253250
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Hypertension, Ventricular septal defect, Contract... OMIM:613870
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Collagenoma, Familial Cutaneous
Congestive heart failure, Tricuspid regurgitation, Atrial fibrillation, Vasculitis, Cardiomyopath... OMIM:115250
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Liddle Syndrome
Cerebral ischemia, Hypertension, Arrhythmia ORPHA:526
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Spondylitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, S... OMIM:619375
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Parkinsonism, Myoclonic spasms, Progressive language deterioration, Motor s... ORPHA:79264
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis, Neonatal cholesta... OMIM:214900
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Coronary artery atherosclerosis, Hypertension, Cardiomegaly, Bruising susceptibility, Aortic regu... ORPHA:91387
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Synaptic Congenital Myasthenic Syndromes
Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber p... ORPHA:98915
Ebstein Anomaly
Ventricular preexcitation, Atrial standstill, Sudden cardiac death, Right bundle branch block, At... OMIM:224700
Ceroid storage disease
Hepatic failure, Abnormality of the spleen OMIM:214200
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of urine homeostasis, Bili... ORPHA:1414
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Ichthyosis With Confetti
Erythroderma OMIM:609165
Atransferrinemia
Congestive heart failure OMIM:209300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Elevated circulating creatine kina... OMIM:600649
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
Camptodactyly, Patent ductus arteriosus, Joint contracture of the hand OMIM:211930
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormal aortic valve morphology, Congenital diap... ORPHA:1120
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Dilation of lateral ventr... ORPHA:306669
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Noonan Syndrome 8
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, V... OMIM:615355
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, V... OMIM:612561
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Congenital diaphragmatic her... ORPHA:2847
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Back pain, Aggressive behavio... ORPHA:905
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Meacham Syndrome
Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Death in infancy, Patent ductus ... OMIM:608978
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Congestive heart failure, Pericarditis ORPHA:163596
Central Neurocytoma
Cerebral calcification, Ataxia, Abnormal lateral ventricle morphology, Hydrocephalus, Babinski sign ORPHA:73256
Dk1-Cdg
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Card... ORPHA:91131
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Unbalanced atrioventricular canal defect, Situs inversus totalis, Inter... OMIM:618300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Arrhythmia OMIM:609286
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Hepatomegaly, Back pain, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Prominent veins on trunk, Hypertrophic cardiomyopathy, Abnormality of s... ORPHA:79083
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Splenomegaly, Hepatomegaly, Irritability, Thrombocytopenia OMIM:615846
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Abnormal vertebral morphology, Spinal canal stenosis, Abnormality of ... ORPHA:93476
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:70472
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Periventricular heterotopia, Ventricular septal defect, Patent ductus arter... OMIM:618974
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Ele... OMIM:616828
Babesiosis
Splenomegaly, Myocardial infarction, Hepatomegaly, Congestive heart failure ORPHA:108
Sudden Infant Death With Dysgenesis Of The Testes Syndrome