Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
xin actin-binding repeat containing 2
Synonyms:
A530024P18Rik,  2310008C07Rik,  myomaxin,  mXin beta,  Cmya3,  2310003D02Rik

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 Xirp2 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 Xirp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Ethanolaminosis
Cardiomegaly OMIM:227150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Endocardial fibroelasto... OMIM:108770
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Intrauterine growth retardation, Conges... OMIM:610198
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Incre... ORPHA:1344
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Muscular Dystrophy, Becker Type
Arrhythmia, Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy OMIM:300376
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Desminopathy
Distal lower limb muscle weakness, Congestive heart failure, Loss of ability to walk, Sudden card... ORPHA:98909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Atrioventricular block, Cardiomegaly, Weight loss ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyop... OMIM:115197
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
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Leg muscle stiffness, Proximal muscle weakness in upper limbs, Weakness of the intrinsic hand mus... ORPHA:98912
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, EMG: my... OMIM:601419
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:310300
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Patent ductus arteriosus after birth at t... OMIM:618782
Myofibrillar Myopathy 10
Increased circulating troponin I concentration, EMG: myopathic abnormalities, Ankle flexion contr... OMIM:619040
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98855
Nathalie Syndrome
Abnormal EKG, Growth delay, Skeletal muscle atrophy OMIM:255990
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Reduced ejection... OMIM:619371
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98853
Cirrhotic Cardiomyopathy
Right atrial enlargement, Increased circulating troponin I concentration, Left ventricular diasto... ORPHA:57777
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Prolonged QT interval, Ventr... OMIM:601005
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction, Arrhy... OMIM:615373
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98863
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatic failure, Abnormality of the liver, Arrhythmia, Splenomegaly, Hepa... ORPHA:398124
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Systolic heart murmur, Patent foramen ovale, Congestive heart failure, ... ORPHA:439
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular... OMIM:212138
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Patent for... ORPHA:26793
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Lethargy, Short stature, Ventricu... ORPHA:49827
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Loeffler Endocarditis
T-wave inversion, Right bundle branch block, Abnormal cardiomyocyte morphology, Endocardial fibro... ORPHA:75566
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy, Palpitati... ORPHA:276556
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Absent ankle pulse, Myocardial infarction, Abnormality of venous p... ORPHA:90064
Attrv122I Amyloidosis
Cardiomegaly, Left ventricular hypertrophy, Reduced ejection fraction, Arrhythmia, Congestive hea... ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Failure to thrive, Hypertrophic cardiomyopathy OMIM:617228
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Third degree atrioventricular block, Ataxia, Skeletal muscle atrophy ORPHA:480
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy, Palpitati... ORPHA:276575
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Skeletal muscle atrophy, Loss of ability to walk, Limb-girdle muscle weakness,... OMIM:616812
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Ca... ORPHA:860
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Intrauterine growth retardation, Genera... ORPHA:66634
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Coronary Arterial Fistula
Cardiomegaly, Patent foramen ovale, Arrhythmia, Abnormal left ventricular function, Congestive he... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy, Palpitati... ORPHA:276580
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Flexion contracture, Congenital muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Musc... OMIM:615351
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Flexion contracture, Penetrating foot ulcers, Abnormal atrioventricular conduction, Peroneal musc... OMIM:118230
Familial Idiopathic Dilatation Of The Right Atrium
Midsystolic murmur, Right atrial enlargement, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Patent ductus arteriosus, Atrial septal defect, First degree atri... ORPHA:392
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Intrauterine growth retardation, Hypertrophic cardiomy... ORPHA:71212
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, ST segment elevation, Ventricular fibrillation, Foot dorsiflexor ... ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular septal hypertrophy, Ventricular fibrillation, Ventricular tachycardia, T-wave inversi... OMIM:608758
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Cyclic Vomiting Syndrome
Growth delay, Ataxia, Lethargy, Cardiomyopathy, Pallor OMIM:500007
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... OMIM:113900
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Congestive heart failure, Abnormal EKG, ... OMIM:310200
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Growth delay, Failure to thrive, Atrioventricular block, Bra... OMIM:614407
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Histiocytoid Cardiomyopathy
Cardiomegaly, Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart fa... ORPHA:137675
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Left ventricular hypertrophy, Intracranial hemorrhage, Epist... ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Obesity, Ataxia, Unsteady gait, Short stature, Ventricular septal... OMIM:614947
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Biventricular hypertrophy, Hypertrophic... OMIM:613243
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb muscle weakness, Abnormal EKG, Generalized amyotrophy, Progressive cerebellar ataxia, ... ORPHA:1177
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Reduced ejection fraction, Arrhythmia, Abnormal left ventricular funct... ORPHA:45452
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced ejection fraction, Right ventricular hypertrophy... ORPHA:268
Kearns-Sayre Syndrome
Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block, Ataxia, Short stature,... OMIM:530000
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Ischemic stroke, Myocardial... ORPHA:90065
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... ORPHA:308552
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Penetrating foot ulcers, Abnormal atrioventricular conduction, Peroneal ... OMIM:118301
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Limb-girdle muscular dystrophy, Re... ORPHA:206559
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Rett Syndrome
Abnormal T-wave, Skeletal muscle atrophy, Gait apraxia, Gait ataxia, Short stature, Cachexia, Tru... OMIM:312750
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Athetosis, Pulmonary arterial hypertension, Hypertension, V... ORPHA:369929
Isolated Succinate-Coq Reductase Deficiency
Skeletal myopathy, Intrauterine growth retardation, Abnormal left ventricular function, Skeletal ... ORPHA:3208
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Congestive heart failure, Abnormal echocardiogram, Abnor... OMIM:229300
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Atrial septal defect, Left-to-right shunt, Muscular ventricular septal ... ORPHA:363444
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Loss of ability to walk, Abnormal atrioventricular conduction, Limb musc... ORPHA:329336
Al Amyloidosis
Increased circulating troponin I concentration, Abnormality of the liver, Monoclonal light chain ... ORPHA:85443
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Ventricular fibrillation, Rhabdomyolysis, Palpitations, F... ORPHA:358
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Flexion contracture, Muscular dystrophy, Splenomegaly, Hepatomegaly, Failure t... OMIM:613327
Drug-Induced Lupus Erythematosus
Pericardial effusion, Petechiae, Prolonged QTc interval, Pericarditis ORPHA:231111
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Rhabdomyol... OMIM:616878
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Patent ductus ar... OMIM:616501
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
Polymyositis
Dilated cardiomyopathy, Elevated aldolase level, Gastrointestinal hemorrhage, Arrhythmia, Congest... ORPHA:732
Rheumatic Fever
Abnormal heart valve morphology, Arrhythmia, Abnormal mitral valve morphology, Endocarditis, Myoc... ORPHA:3099
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Small for gestational age, Muscular ventricular septal defect, P... OMIM:618804
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Left ventricul... OMIM:163800
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Cardiac Diverticulum
Premature ventricular contraction, Diastasis recti, Tricuspid atresia, Dextrocardia, Mitral steno... ORPHA:1686
Beta-Thalassemia
Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Hepatitis, Pallor, Skin ... ORPHA:848
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Short stature, Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Abnormal Z disc morphology, Type 1 muscle fiber p... OMIM:618654
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Double outlet right ventricle, Hypertension, Bicuspid aortic valve, Ventric... ORPHA:371428
Atrial Septal Defect 1
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:108800
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Splenomegaly, Myocarditis, Hepatomegaly, Cardiomyopathy, Pa... ORPHA:3386
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atriov... OMIM:234700
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Pallor, Small for gestational age, Hepatomegaly, Lethargy, Palpitation... ORPHA:324575
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Abnormality of masticatory muscle, Atrial fibrillation, Pr... ORPHA:273
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased variability in muscle fiber diameter, Hypertension, Scapular winging, Centrally nucleat... ORPHA:437572
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Failure to thrive, Ventric... OMIM:601127
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, First degree atrioventricular block, Atrial fibrillation, Facial ... OMIM:160900
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Failure to thrive, Heart murmur, P... ORPHA:99931
Congenital Sialidosis Type 2
Dysmetria, Hepatosplenomegaly, Petechiae, Abnormal EKG, Ataxia, Hepatomegaly, Abnormal heart morp... ORPHA:93400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Abnormal EKG, EMG: myopathic abnormalities, Ataxia, Prolonged QT interval, Elevated h... ORPHA:480864
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Hepatomegaly, Pericarditis, Pallor ORPHA:163596
Gitelman Syndrome
Rhabdomyolysis, Ventricular tachycardia, Hypotension, Ataxia, Growth delay, Failure to thrive, Pr... OMIM:263800
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Short stature, Intrauterine growth retardation, Ventricular septal defect ORPHA:2515
Fabry Disease
Abnormal myocardium morphology, Abnormal endocardium morphology, Mucosal telangiectasiae, Arrhyth... ORPHA:324
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Left ventricular noncompaction, Reduced ej... OMIM:613426
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Gait disturbance, Failure to thrive, Lethargy ORPHA:79283
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Arrhythmia, Patent ductus arteriosus, Decreased liver function, ... OMIM:617021
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndro... OMIM:616201
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis, Dupuytren contracture OMIM:122850
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Lethargy, Pallor, Tachycardia, Increased body weight ORPHA:276608
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Short stature, Ventricular sep... OMIM:249670
Dextrocardia
T-wave inversion, Abnormal EKG, Pancreatic hypoplasia, Dextrocardia, Situs inversus totalis, Abno... ORPHA:1666
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Small for gestational age, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hyp... OMIM:613355
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Absence Of The Pulmonary Artery
Cardiomegaly, Tetralogy of Fallot, Atrial flutter, Reduced ejection fraction, Systolic heart murm... ORPHA:980
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Bidirectional ventricular ectopy, Prolonged QT interval, Syncope, Scapular winging,... OMIM:170390
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Ventricular fibrillation, Shortened PR interval, Rhabdomyol... ORPHA:79102
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Intrauterine growth retardation, Small for gestational age, Hypertension, Po... OMIM:616733
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypersplenism, Hepatosplenomegaly, High-output congestive heart failure, ... ORPHA:231226
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotra... OMIM:619573
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Hereditary Spherocytosis
Cholelithiasis, Splenomegaly, Growth delay, Ataxia, Jaundice, Hepatomegaly, Restrictive cardiomyo... ORPHA:822
Spondylometaphyseal Dysplasia, Sedaghatian Type
Arrhythmia, Rhizomelic arm shortening, Myocarditis, Disproportionate short stature, Atrioventricu... ORPHA:93317
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Dilatation of the ventr... OMIM:615745
Cog7-Cdg
Hepatosplenomegaly, Small for gestational age, Hepatomegaly, Jaundice, Abnormal heart morphology,... ORPHA:79333
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Glycogen Storage Disease Ii
Shortened PR interval, Firm muscles, Wolff-Parkinson-White syndrome, Splenomegaly, Hepatomegaly, ... OMIM:232300
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Abnormal left ventricular function, Hype... ORPHA:75249
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Glycogen Storage Disease Due To Acid Maltase Deficiency
Increased circulating lactate dehydrogenase concentration, Shortened PR interval, Lower limb musc... ORPHA:365
Beta-Thalassemia Major
Dilated cardiomyopathy, Hypersplenism, Hepatosplenomegaly, High-output congestive heart failure, ... ORPHA:231214
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Muscular subvalvular aortic stenosis, Weakness of the intrinsic hand muscles, Decreased pyruvate ... OMIM:302900
Cerebral Creatine Deficiency Syndrome 1
Failure to thrive, Short stature, Prolonged QT interval, Gait disturbance, Broad-based gait OMIM:300352
Cocaine Intoxication
Hypovolemia, Increased circulating lactate dehydrogenase concentration, Rhabdomyolysis, Diffuse a... ORPHA:90068
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Spontaneous Periodic Hypothermia
Pallor, Ataxia, Arrhythmia, Gait disturbance ORPHA:29822
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Friedreich Ataxia And Congenital Glaucoma
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Congestive heart f... OMIM:229310
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Congestive heart f... OMIM:601992
Refsum Disease
Skeletal muscle atrophy, Splenomegaly, Ataxia, Cardiomyopathy, Heart block, Dry skin ORPHA:773
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Rhabdomyolysis, Sinus tachycardia, Abnormal pulse pressure, Hepatic failure, Hyp... ORPHA:466650
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Alg12-Cdg
Patent foramen ovale, Intrauterine growth retardation, Patent ductus arteriosus, Biventricular hy... ORPHA:79324
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor, Ataxia ORPHA:71518
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Pulmonic stenosis, Truncal obesity, Prolonged QT interval, Patent d... ORPHA:529962
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Prolonged QT interval, Abnormal left ventricular function ORPHA:36913
Feingold Syndrome 2
Postnatal growth retardation, Short stature, Ventricular septal defect OMIM:614326
Ethylene Glycol Poisoning
Congestive heart failure, Facial palsy, Hypotension, Ataxia, Prolonged QT interval, Atrial fibril... ORPHA:31826
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Flexion contracture, Reduced ejection fraction, Abnormal mitral v... ORPHA:581
Leopard Syndrome 1
Delayed puberty, Subvalvular aortic stenosis, Third degree atrioventricular block, Bundle branch ... OMIM:151100
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Atrioventricular canal de... OMIM:615779
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Ataxia, Situs inversus totalis, Short stature, Cardiomyopathy, ... OMIM:249270
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Acute pancreatitis, Cardiac arrest, Lipid accumulation in hepatocytes, Hy... ORPHA:20
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Abnormal left ventricula... ORPHA:70591
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Non-Functioning Paraganglioma
Sinus tachycardia, Pallor, Congestive heart failure, Hypertension associated with pheochromocytom... ORPHA:94080
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Pancreatic islet-cell hyperplasia, Increased hepatic glycogen content,... ORPHA:263455
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Noonan Syndrome 8
Large for gestational age, Patent ductus arteriosus, Atrial septal defect, Palmoplantar cutis lax... OMIM:615355
Pseudohypoparathyroidism Type 1B
Short stature, Prolonged QT interval ORPHA:94089
Evans Syndrome
Petechiae, Pallor, Jaundice, Lethargy, Syncope, Epistaxis ORPHA:1959
Atrophoderma Vermiculata
Heart block, Erythema ORPHA:79100
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Atrial septal defect, Bundle branch block, Pancreatic islet-cell hyperplasia, Spl... ORPHA:373
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Splenomegaly, Hepatomegaly ORPHA:46532
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Feingold Syndrome Type 1
Tricuspid atresia, Patent ductus arteriosus, Tricuspid stenosis, Multiple muscular ventricular se... ORPHA:391641
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Muscular ventricular septal defect OMIM:619227
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Arrhythmia, Congestive heart failure, Atrial septal defect, Pate... ORPHA:1880
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles, Spastic gait OMIM:606353
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Failure to t... OMIM:615279
Fanconi Anemia, Complementation Group I
Decreased body weight, Intrauterine growth retardation, Patent foramen ovale, Atrial septal defec... OMIM:609053
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Facial hypotonia, Arrhythmia, Ataxia, Failure to thrive, Cardiac conduction abno... ORPHA:2131
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Roifman Syndrome
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Short stature, Ventricular septal de... OMIM:616651
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Myocardial fibrosis, Left ventricular noncompac... OMIM:619424
Dpagt1-Cdg
Flexion contracture, Inability to walk, Akinesia, Ataxia, Hepatomegaly, Failure to thrive, Prolon... ORPHA:86309
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Scimitar Syndrome
Tetralogy of Fallot, Tricuspid atresia, Congestive heart failure, Atrial septal defect, Patent du... ORPHA:185
Danon Disease
Dilated cardiomyopathy, Generalized amyotrophy, Hypertrophic cardiomyopathy, EMG: myopathic abnor... OMIM:300257
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Right bundle branch block OMIM:613158
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Arthrogryposis multiplex cong... OMIM:614262
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic steatosis, Biliary cirrhosis, Cirrhosis, Intrauterine growth retardation, Failure to thri... ORPHA:99413
Turner Syndrome
Hepatic steatosis, Biliary cirrhosis, Cirrhosis, Intrauterine growth retardation, Failure to thri... ORPHA:881
Mosaic Monosomy X
Hepatic steatosis, Biliary cirrhosis, Cirrhosis, Intrauterine growth retardation, Failure to thri... ORPHA:99228
Monosomy X
Hepatic steatosis, Biliary cirrhosis, Cirrhosis, Intrauterine growth retardation, Failure to thri... ORPHA:99226
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systolic heart m... ORPHA:99104
Leptospirosis
Subconjunctival hemorrhage, Rhabdomyolysis, Arrhythmia, Retinal hemorrhage, First degree atrioven... ORPHA:509
Pseudohypoparathyroidism Type 1C
Obesity, Short stature, Prolonged QT interval, Calcinosis ORPHA:79444
Scorpion Envenomation
Increased circulating troponin I concentration, Increased circulating lactate dehydrogenase conce... ORPHA:466677
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Growth delay, Failure to thr... OMIM:612561
Retinitis Pigmentosa 42
Pallor OMIM:612943
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cardiomegaly, Hepatic failure, Hepatic steatosis, Arrhythmia, Red... ORPHA:228308
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Petechiae, Portal hypertension, Hepato... ORPHA:824
Ogden Syndrome
Shuffling gait, Arrhythmia, Cardiogenic shock, Cutis laxa, Lethargy, Postnatal growth retardation... ORPHA:276432
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Optic Atrophy 1
Pallor, Ataxia OMIM:165500
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Cardiomegaly, Rhabdomyolysis, Elevated circulating alanine aminotransfera... OMIM:614921
45,X/46,Xy Mixed Gonadal Dysgenesis
Muscle hypertrophy of the lower extremities, Obesity, Short stature, Prolonged QT interval, Bicus... ORPHA:1772
Retinitis Pigmentosa 60
Pallor OMIM:613983
Weill-Marchesani Syndrome
Pulmonic stenosis, Short stature, Ventricular septal defect, Mitral regurgitation, Aortic valve s... ORPHA:3449
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Growth dela... OMIM:617675
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Contractures involving the joints of the feet, Severe short stature, Limb hypert... ORPHA:444072
Transaldolase Deficiency
Hepatosplenomegaly, Patent foramen ovale, Intrauterine growth retardation, Small for gestational ... OMIM:606003
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Intrinsic hand muscle atrophy, Muscular ventricular septal defect OMIM:618569
Von Hippel-Lindau Disease
Distal lower limb muscle weakness, Pallor, Arrhythmia, Abnormal left ventricular function, Pancre... ORPHA:892
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Optic Atrophy 9
Pallor OMIM:616289
Pulmonary Hypertension, Primary, 4
Atrial flutter, First degree atrioventricular block, Increased pulmonary vascular resistance, Rig... OMIM:615344
Grange Syndrome
Patent ductus arteriosus, Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Retinitis Pigmentosa 81
Pallor OMIM:617871
Idiopathic Hypereosinophilic Syndrome
Vasculitis in the skin, Dilated cardiomyopathy, Hepatosplenomegaly, Congestive heart failure, Ske... ORPHA:3260
Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Arrhythmia, Congestive heart failure ORPHA:98375
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618652
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Failure to thrive, Delayed puberty, Generalized limb muscle atrophy OMIM:600462
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Intrauterine growth retardation, Small for gestational age, Hypertrophic cardiomy... OMIM:618775
Peripheral Cone Dystrophy
Pallor OMIM:609021
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Intrauterine growth retarda... ORPHA:500
Pseudohypoparathyroidism Type 1A
Obesity, Short stature, Prolonged QT interval, Hypertension, Calcinosis ORPHA:79443
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
African Trypanosomiasis
Second degree atrioventricular block, Hepatosplenomegaly, Arrhythmia, Congestive heart failure, A... ORPHA:3385
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Double outlet right ventricle, Facial erythema, Hypoplastic left heart, Ventricular ... OMIM:619503
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Pulmonary arteri... OMIM:608406
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Hypertension, Ventricular septal defect, Contract... OMIM:613870
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Tachycardia, Splenomegaly, Congestive heart failure ORPHA:90037
Craniofaciofrontodigital Syndrome
Large for gestational age, Abnormal heart valve morphology, Gastrointestinal hemorrhage, Arrhythm... ORPHA:363705
Juvenile Dermatomyositis
Myositis, Gastrointestinal hemorrhage, Arrhythmia, Mucosal telangiectasiae, Dry skin, Bundle bran... ORPHA:93672
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Systolic heart murmur, Pat... ORPHA:555874
Sepsis In Premature Infants
Decreased body weight, Petechiae, Pallor, Small for gestational age, Hypotension, Decreased liver... ORPHA:90051
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Pallor, Intracranial hemorrhage, Weight loss ORPHA:3226
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Congestive heart failure, Atrial septal defect, Tricuspid stenos... OMIM:105650
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Pallor, Splenomegaly, Growth delay OMIM:615234
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Proximal upper limb muscle hypertrophy, Congestive heart failure, Abnormal atr... ORPHA:280365
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Splenomegaly, Jaundice, Pallor, Tachycardia ORPHA:90033
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Pallor, High-output congestive hear... ORPHA:231222
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Cardiac amyloidosis, Supravalvula... ORPHA:439232
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Primary Hyperoxaluria
Heart block, Failure to thrive, Cardiomyopathy, Elevated hepatic transaminase, Intermittent claud... ORPHA:416
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Akinesia, Ventricular septal defect, Arthrogrypo... OMIM:607598
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Pallor, Congestive heart failure, Hypertension associated with pheochromocytom... ORPHA:276621
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Leber Congenital Amaurosis 14
Pallor, Falls OMIM:613341
Acquired Idiopathic Sideroblastic Anemia
Pallor, Splenomegaly, Hepatomegaly, Congestive heart failure ORPHA:75564
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Dysmetria, Ataxia, Gait disturbance, Limb dysmetria ORPHA:94125
Ebstein Anomaly
Ventricular preexcitation, Atrial standstill, Atrial septal defect, Sudden cardiac death, Right b... OMIM:224700
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Growth delay, Jaundice, Short stature, Pallor OMIM:615631
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic left heart, Sh... ORPHA:3426
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pallor, Ataxia, Jaundice OMIM:613839
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Adams-Oliver Syndrome 6
Portal hypertension, Ventricular septal defect, Truncus arteriosus, Tricuspid regurgitation, Hepa... OMIM:616589
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia OMIM:619170
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal aortic valve cusp morphology, Congestive heart failure, Patent for... ORPHA:99094
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Patent ductus arteriosus, Slender build, At... OMIM:300967
Acromesomelic Dysplasia 4
Short stature, Disproportionate short stature, Third degree atrioventricular block, Rhizomelia OMIM:619636
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Leishmaniasis
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Pallor, Skin ulcer, Weight loss ORPHA:507
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Patent ductus arteriosus, Obesity, Hypertrophic cardiomyopathy, ... OMIM:612938
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Athetosis, Pulmonary arterial hypertension, Hype... OMIM:615474
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Lethargy, Short stature, Failure to thrive, Pallor OMIM:611590
Ogden Syndrome
Ventricular tachycardia, Arrhythmia, Torsade de pointes, Premature ventricular contraction, Atria... OMIM:300855
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hepatomegaly, Abnormal enzyme/coenzyme activity, Elevated hepatic transaminase... ORPHA:348
X-Linked Sideroblastic Anemia
Pallor, Splenomegaly, Elevated hepatic transaminase ORPHA:75563
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Elevated total serum tryptase, Hypotension, Splenomegaly, Hepatomegaly, Syncope, Tachycar... ORPHA:98849
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Reduced muscle carnitine level, Hypertrophic cardiomyopathy, Hepatome... OMIM:212140
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Hyperoxaluria, Primary, Type I
Intermittent claudication, Raynaud phenomenon, Atrioventricular block, Arterial occlusion OMIM:259900
Beta-Ketothiolase Deficiency
Hypotension, Hepatomegaly, Ataxia, Hypertension, Pallor, Weight loss ORPHA:134
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Small for gestational age, Diastasis recti, Abnormal heart morphology,... ORPHA:254534
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Tachycardia ORPHA:90036
Retinitis Pigmentosa 27
Pallor OMIM:613750
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Retinitis Pigmentosa 70
Pallor OMIM:615922
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Patent duct... OMIM:619343
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Splenomegaly, Ataxia, ... ORPHA:33226
Eisenmenger Syndrome
Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle branch block, Atrial f... ORPHA:97214
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Rare Circulatory System Disease
Intermittent claudication, Elbow flexion contracture, Pallor ORPHA:98028
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Supravalvular aortic stenosis, Pulmonic ste... ORPHA:1461
Tsh-Secreting Pituitary Adenoma
Pallor, Congestive heart failure, Hypotension, Ventricular arrhythmia, Hypertension, Palpitations... ORPHA:91347
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Marbach-Rustad Progeroid Syndrome
Intrauterine growth retardation, Pulmonary insufficiency, Right bundle branch block, Growth delay... OMIM:619322
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Pallor, Congestive heart failure, Hypertension associated with pheochromocytom... ORPHA:29072
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Hepatosplenomegaly, Aortic regurgitation, Pulmonary i... ORPHA:576
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Atrial septal defect, Hypertrophic cardiomyopathy, Right bundle branch ... OMIM:617403
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Patent ductus arteriosus OMIM:126320
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Postnatal growth retardation, Heart murmur, Intrauterine growth retardation ORPHA:2728
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Heart block, Capillary leak, Elevated hepatic... ORPHA:542323
Cartilage-Hair Hypoplasia
Disproportionate short-limb short stature, Abnormality of the pancreas, Rhizomelia, Hepatomegaly,... ORPHA:175
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Serkal Syndrome
Growth delay, Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Dopamine Beta-Hydroxylase Deficiency
Syncope, Abnormal EKG, Orthostatic hypotension, Orthostatic syncope ORPHA:230
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Short stature, Elevated hepatic transaminase, Melena ORPHA:98870
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Imerslund-Gräsbeck Syndrome
Pallor, Tachycardia, Failure to thrive, Weight loss ORPHA:35858
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Ventricular sep... OMIM:601927
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Splenomegaly, Hepatomegaly, Growth delay, Pulmonary arterial... ORPHA:667
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Blackfan-Diamond Anemia
Small for gestational age, Atrial septal defect, Abnormality of the thenar eminence, Growth delay... ORPHA:124
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Sinus tachycardia, Flexion contracture, Right bundle branch block, Grow... OMIM:614008
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Absent gallbladder, Patent ductus arteriosus, Atrial septal defect, Pulmonar... ORPHA:210122
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Noonan Syndrome 10
Patent ductus arteriosus, Atrial septal defect, Palmoplantar cutis laxa, Hypertrophic cardiomyopa... OMIM:616564
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis ORPHA:231625
Degcags Syndrome
Hepatosplenomegaly, Patent foramen ovale, Intrauterine growth retardation, Small for gestational ... OMIM:619488
Syndromic Diarrhea
Tetralogy of Fallot, Hepatoblastoma, Abnormality of the liver, Aortic regurgitation, Intrauterine... ORPHA:84064
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Breath-Holding Spells
Pallor OMIM:607578
Retinitis Pigmentosa 73
Pallor OMIM:616544
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Dilated cardiomyopathy, Hepatic failure, Ragged-red muscle... ORPHA:255210
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Short stature, Anemic pallor, Small for gestational age OMIM:600901
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Tetralogy of Fallot, Aortopulmonary window, Congestive heart failure, Atrial septal defect, Paten... ORPHA:99050
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Short stature, Anemic pallor, Small for gestational age OMIM:227650
Dravet Syndrome
Pallor, Bradykinesia, Progressive gait ataxia ORPHA:33069
Hereditary Folate Malabsorption
Pallor, Failure to thrive, Skeletal muscle atrophy ORPHA:90045
Fanconi Anemia, Complementation Group C
Anemic pallor, Flexion contracture, Intrauterine growth retardation, Small for gestational age, S... OMIM:227645
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Lethargy, Myocardial steatosis, Neonatal death OMIM:228100
Isotretinoin-Like Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, Arrhythmia OMIM:153400
Sheehan Syndrome
Orthostatic hypotension, Pallor, Bradycardia, Obesity, Palpitations, Dry skin ORPHA:91355
Neuraminidase Deficiency
Skeletal muscle atrophy, Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Increased circulating lactate dehydrogenase concentration, Hepatic fa... ORPHA:99827
Esophageal Atresia
Tetralogy of Fallot, Small for gestational age, Failure to thrive in infancy, Growth delay, Ventr... ORPHA:1199
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Abnormal tendon morphology, Abnormal left ventricular function, Sudden cardiac... ORPHA:391665
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Atrial septal defect, Dextrotransposition of the great arteries, Unbala... OMIM:619657
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Cutis Laxa, Autosomal Recessive, Type Iic
Decreased body weight, Aortic regurgitation, Atrial septal defect, Biventricular hypertrophy, Rig... OMIM:617402
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Limb muscle weakness OMIM:266500
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy OMIM:619051
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Bradykinesia, Falls, Ataxia ORPHA:13
Neonatal Marfan Syndrome
Flexion contracture, Small for gestational age, Abnormal echocardiogram, Tricuspid valve prolapse... ORPHA:284979
Refractory Anemia With Excess Blasts
Palpitations, Anemic pallor, Retinal hemorrhage ORPHA:86839
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertensive crisis, Hypertension, Pancreatitis, Pallor ORPHA:544482
Fumarase Deficiency
Pallor, Failure to thrive, Hepatic failure, Cholestasis OMIM:606812
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Multiple Endocrine Neoplasia Type 2
Pallor, Hypertension associated with pheochromocytoma, Neoplasm of the liver, Proximal amyotrophy... ORPHA:653
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hematemesis, Hypertension, Ve... OMIM:301068
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Fanconi Anemia, Complementation Group D2
Anemic pallor, Patent ductus arteriosus, Small for gestational age, Abnormal heart morphology, Sh... OMIM:227646
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypoplastic spleen, Hepatic steatosis, Hepatic failure, Abnorm... ORPHA:699
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Ventricular septal defect, Bicuspid aortic valve,... OMIM:109730
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Shortened QT interval, Weight loss, Pancreatitis ORPHA:143
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Pallor ORPHA:331206
Truncus Arteriosus
Cardiomegaly, Tetralogy of Fallot, Abnormal heart valve morphology, Aortic regurgitation, Right v... ORPHA:3384
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatic failure, Small for gestational age, Macronodular cirrh... OMIM:557000
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Absent gallbladder, Patent foramen ovale, Double outlet left ventricle, Hypo... OMIM:600001
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Tetralogy of Fallot, Patent foramen ovale, Double outlet left ... ORPHA:2255
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:235200
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Skeletal muscle atrophy, Hepatomegaly, Myopathy, Cardiomegaly ORPHA:42
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Histiocytoid cardiomyopathy, Arrhythmia, Atrial septal defect, Congenital diaph... OMIM:309801
Myoclonus, Intractable, Neonatal
Pallor, Athetosis OMIM:617235
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Hepatomegaly OMIM:246450
Prolactinoma
Pallor, Delayed puberty, Hypotension ORPHA:2965
Cold Agglutinin Disease
Pallor, Splenomegaly, Hepatomegaly ORPHA:56425
Pituitary Apoplexy
Pallor, Hypotension, Hypertension ORPHA:95613
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Contractures of the large joints, Mitral valve prolap... ORPHA:324410
Kcnq2-Related Epileptic Encephalopathy
Pallor, Inability to walk, Facial erythema ORPHA:439218
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Growth delay, Elevated hepatic iron concentration, Elevated hepatic transamin... ORPHA:300298
Multiple Endocrine Neoplasia Type 1
Insulinoma, Lethargy, Hematemesis, Hypertension, Melena, Shortened QT interval, Weight loss, Neop... ORPHA:652
Retinitis Pigmentosa 51
Pallor OMIM:613464
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Total anomalous pulmonary venous return, Intrauterine growth retardation,... OMIM:270100
Hydranencephaly
Intrauterine growth retardation, Dilatation of the ventricular cavity, Lethargy, Antenatal intrac... ORPHA:2177
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:201475
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Atrial septal defect, Situs in... ORPHA:3097
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Pancreatic adenocarcinoma, Pancreatitis ORPHA:99880
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Incontinentia Pigmenti
Pallor, Short stature, Erythema, Retinal hemorrhage OMIM:308300
Heterotaxy, Visceral, 12, Autosomal
Complete atrioventricular canal defect, Patent foramen ovale, Patent ductus arteriosus, Atrial se... OMIM:619702
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect, Torticollis OMIM:617022
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Beck-Fahrner Syndrome
Facial hypotonia, Cardiomegaly, Ventricular septal defect OMIM:618798
Senior-Loken Syndrome 8
Pallor, Hepatic cysts, Pancreatic cysts OMIM:616307
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Hepatitis, Pallor OMIM:194380
Autosomal Dominant Cutis Laxa
Dermal translucency, Intrauterine growth retardation, Aortic regurgitation, Congestive heart fail... ORPHA:90348
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect OMIM:616897
Woodhouse-Sakati Syndrome
Abnormal T-wave, Delayed puberty, Scaling skin, Growth delay ORPHA:3464
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Jaundice OMIM:246400
Fucosidosis
Cardiomegaly, Decreased muscle mass, Hepatomegaly ORPHA:349
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Growth delay ORPHA:329971
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Symptomatic Form Of Hemochromatosis Type 1
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Decreased muscle mass ORPHA:465508
Sickle Cell Anemia
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:603903
Myelofibrosis
Pallor, Purpura, Splenomegaly OMIM:254450
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Limb muscle weakness OMIM:619259
Elliptocytosis 1
Pallor, Splenomegaly, Jaundice OMIM:611804
Sandhoff Disease
Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Macroglossia, Cardiomegaly OMIM:268800
Fucosidosis
Flexion contracture, Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly OMIM:230000
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Camptodactyly of finger, Elbow flexion contracture, Atrial septal defect, Spl... OMIM:602782
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Sarcoidosis
Hepatic failure, Portal hypertension, Ventricular tachycardia, Arrhythmia, Facial palsy, Decrease... ORPHA:797
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Increased muscle lipid content, Hepatomegaly, Knee flexi... OMIM:608836
Tay-Sachs Disease
Pallor OMIM:272800
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Camptodactyly of toe ORPHA:158687
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Prolonged neonatal jaundice, Splenomegaly OMIM:300908
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Retinitis Pigmentosa 75
Pallor OMIM:617023
Mogs-Cdg
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:79330
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Childhood Absence Epilepsy
Pallor ORPHA:64280
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Arthrogryposis multiplex congenita, Cardiomegaly OMIM:608013
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musculature ORPHA:2463
Aregenerative Anemia
Pallor ORPHA:101096
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Hepatomegaly, Macroglossia, Arthrogryposis multiplex congenita, Card... OMIM:618143
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects